#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
LRRC47	57470	hgsc.bcm.edu	37	1	3703707	3703707	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:3703707T>C	ENST00000378251.1	-	2	810	c.783A>G	c.(781-783)ggA>ggG	p.G261G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	261							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACCACGGCCTCCGACGCGCA	0.637																																					p.G261G		Atlas-SNP	.											.	LRRC47	42	.	0			c.A783G						.						77.0	61.0	67.0					1																	3703707		2203	4300	6503	SO:0001819	synonymous_variant	57470	exon2			ACGGCCTCCGACG	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.783A>G	chr1.hg19:g.3703707T>C		192.0	0.0		70.0	4.0	NM_020710	Q9ULN5	Silent	SNP	ENST00000378251.1	hg19	CCDS51.1																																																																																			.	.		0.637	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710	
PRAMEF4	400735	hgsc.bcm.edu	37	1	12942173	12942173	+	Missense_Mutation	SNP	C	C	G	rs201789683		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:12942173C>G	ENST00000235349.5	-	3	447	c.377G>C	c.(376-378)tGc>tCc	p.C126S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	126					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGAGGAAGCACCCATGGGC	0.493																																					p.C126S		Atlas-SNP	.											PRAMEF4,NS,carcinoma,0,1	PRAMEF4	62	.	0			c.G377C						.						44.0	56.0	52.0					1																	12942173		1381	2629	4010	SO:0001583	missense	400735	exon3			AGGAAGCACCCAT		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.377G>C	chr1.hg19:g.12942173C>G	ENSP00000235349:p.Cys126Ser	38.0	1.0		20.0	4.0	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	hg19	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	8.575	0.881031	0.17467	.	.	ENSG00000243073	ENST00000235349	T	0.18016	2.24	1.35	0.315	0.15852	.	1.371720	0.04624	N	0.402516	T	0.19406	0.0466	L	0.53671	1.685	0.09310	N	1	P	0.50272	0.933	P	0.44811	0.461	T	0.23190	-1.0195	10	0.33940	T	0.23	.	5.2546	0.15540	0.0:0.6297:0.3703:0.0	.	126	O60810	PRAM4_HUMAN	S	126	ENSP00000235349:C126S	ENSP00000235349:C126S	C	-	2	0	PRAMEF4	12864760	0.002000	0.14202	0.003000	0.11579	0.008000	0.06430	0.188000	0.17018	0.112000	0.17975	0.194000	0.17425	TGC	.	C|0.500;G|0.500		0.493	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
DDOST	1650	hgsc.bcm.edu	37	1	20982026	20982026	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:20982026T>C	ENST00000375048.3	-	5	614	c.509A>G	c.(508-510)cAt>cGt	p.H170R	DDOST_ENST00000415136.2_Splice_Site_p.H133R|DDOST_ENST00000602624.2_Splice_Site_p.H153R	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	170					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGCGTATGCTGCAAAGA	0.522																																					p.H170R		Atlas-SNP	.											.	DDOST	30	.	0			c.A509G						.						107.0	108.0	107.0					1																	20982026		2203	4300	6503	SO:0001630	splice_region_variant	1650	exon5			AGCGTATGCTGCA	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.508-1A>G	chr1.hg19:g.20982026T>C		135.0	0.0		92.0	4.0	NM_005216	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	hg19	CCDS212.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490162	0.64074	.	.	ENSG00000244038	ENST00000375048;ENST00000415136	T;T	0.79141	-1.24;-1.24	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.989	D	0.93555	0.6890	10	0.72032	D	0.01	-24.3728	15.6348	0.76944	0.0:0.0:0.0:1.0	.	133;152;170	E7EWT1;B4DLI2;P39656	.;.;OST48_HUMAN	R	170;133	ENSP00000364188:H170R;ENSP00000399457:H133R	ENSP00000364188:H170R	H	-	2	0	DDOST	20854613	1.000000	0.71417	0.992000	0.48379	0.210000	0.24377	6.179000	0.71974	2.152000	0.67230	0.383000	0.25322	CAT	.	.		0.522	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216	Missense_Mutation
AIM1L	55057	hgsc.bcm.edu	37	1	26663170	26663170	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:26663170T>C	ENST00000308182.5	-	11	1259	c.830A>G	c.(829-831)aAg>aGg	p.K277R	AIM1L_ENST00000527815.1_Missense_Mutation_p.K448R|AIM1L_ENST00000522993.1_5'UTR			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	277	Beta/gamma crystallin 'Greek key' 6. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ATACACGCCCTTCTCCAGCAC	0.706																																					p.K1322R		Atlas-SNP	.											.	AIM1L	98	.	0			c.A3965G						.						16.0	15.0	15.0					1																	26663170		2183	4267	6450	SO:0001583	missense	55057	exon12			ACGCCCTTCTCCA			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.830A>G	chr1.hg19:g.26663170T>C	ENSP00000310435:p.Lys277Arg	141.0	0.0		70.0	4.0	NM_001039775	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	hg19		.	.	.	.	.	.	.	.	.	.	T	28.9	4.957733	0.92726	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76448	-1.02;-1.02	5.36	4.22	0.49857	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.951;0.998	T	0.78964	-0.1996	10	0.27082	T	0.32	.	11.3091	0.49353	0.1366:0.0:0.0:0.8634	.	194;277	Q9NTH7;Q8N1P7	.;AIM1L_HUMAN	R	448;277	ENSP00000433931:K448R;ENSP00000310435:K277R	ENSP00000310435:K277R	K	-	2	0	AIM1L	26535757	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.402000	0.79972	0.845000	0.35118	0.533000	0.62120	AAG	.	.		0.706	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2	
RPA2	6118	hgsc.bcm.edu	37	1	28233497	28233497	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:28233497T>C	ENST00000373912.3	-	4	574	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	RPA2_ENST00000313433.7_Missense_Mutation_p.Y180C|RPA2_ENST00000373909.3_Missense_Mutation_p.Y100C	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	92					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTATTTTGTAAACAATGTT	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																													p.Y92C		Atlas-SNP	.											.	RPA2	34	.	0			c.A275G						.						85.0	74.0	78.0					1																	28233497		2203	4300	6503	SO:0001583	missense	6118	exon4			ATTTTGTAAACAA	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.275A>G	chr1.hg19:g.28233497T>C	ENSP00000363021:p.Tyr92Cys	127.0	0.0		69.0	4.0	NM_002946	Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	hg19	CCDS314.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558191	0.86231	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.83	5.83	0.93111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63620	-0.6596	10	0.62326	D	0.03	-29.0408	15.1763	0.72913	0.0:0.0:0.0:1.0	.	92;100	P15927;P15927-2	RFA2_HUMAN;.	C	92;100;180;96	ENSP00000363021:Y92C;ENSP00000363017:Y100C;ENSP00000363015:Y180C;ENSP00000387649:Y96C	ENSP00000363015:Y180C	Y	-	2	0	RPA2	28106084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.225000	0.72522	0.482000	0.46254	TAC	.	.		0.433	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	
DLGAP3	58512	hgsc.bcm.edu	37	1	35334624	35334624	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:35334624G>A	ENST00000373347.1	-	9	2335	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	DLGAP3_ENST00000235180.4_Silent_p.G689G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	689					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCTGCCAGGCCCTCCAGCT	0.682																																					p.G689G		Atlas-SNP	.											.	DLGAP3	107	.	0			c.C2067T						.						14.0	13.0	13.0					1																	35334624		2128	4110	6238	SO:0001819	synonymous_variant	58512	exon7			TGCCAGGCCCTCC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2067C>T	chr1.hg19:g.35334624G>A		96.0	0.0		64.0	25.0	NM_001080418	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	hg19	CCDS30670.1																																																																																			.	.		0.682	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
OSCP1	127700	hgsc.bcm.edu	37	1	36889022	36889022	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:36889022A>G	ENST00000356637.5	-	6	655	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	OSCP1_ENST00000235532.5_Missense_Mutation_p.F188L|OSCP1_ENST00000315643.9_Missense_Mutation_p.F198L|OSCP1_ENST00000433045.2_Missense_Mutation_p.F143L|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	198					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GGCAACACAAAGCGACCGTTA	0.408																																					p.F188L		Atlas-SNP	.											.	OSCP1	48	.	0			c.T562C						.						91.0	94.0	93.0					1																	36889022		2203	4300	6503	SO:0001583	missense	127700	exon5			ACACAAAGCGACC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.592T>C	chr1.hg19:g.36889022A>G	ENSP00000349052:p.Phe198Leu	91.0	0.0		57.0	5.0	NM_145047	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	hg19		.	.	.	.	.	.	.	.	.	.	a	16.12	3.034298	0.54896	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	L	0.46157	1.445	0.80722	D	1	B;P	0.52061	0.448;0.95	P;P	0.55303	0.55;0.773	T	0.48043	-0.9069	10	0.42905	T	0.14	.	14.4998	0.67714	1.0:0.0:0.0:0.0	.	188;198	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	L	188;198;143;158;198	ENSP00000235532:F188L;ENSP00000349052:F198L;ENSP00000390820:F143L;ENSP00000396417:F158L;ENSP00000314541:F198L	ENSP00000235532:F188L	F	-	1	0	OSCP1	36661609	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	8.667000	0.91153	2.032000	0.59987	0.528000	0.53228	TTT	.	.		0.408	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047	
RLF	6018	hgsc.bcm.edu	37	1	40656478	40656478	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:40656478A>G	ENST00000372771.4	+	3	454	c.427A>G	c.(427-429)Agt>Ggt	p.S143G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	143					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTGTCTGAAAGTGAACTGCC	0.343																																					p.S143G		Atlas-SNP	.											.	RLF	152	.	0			c.A427G						.						131.0	124.0	127.0					1																	40656478		2203	4300	6503	SO:0001583	missense	6018	exon3			TCTGAAAGTGAAC		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.427A>G	chr1.hg19:g.40656478A>G	ENSP00000361857:p.Ser143Gly	155.0	0.0		91.0	4.0	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309168	0.40895	.	.	ENSG00000117000	ENST00000372771	T	0.14640	2.49	5.21	5.21	0.72293	.	0.193874	0.56097	D	0.000029	T	0.13543	0.0328	L	0.36672	1.1	0.38696	D	0.952874	B	0.20261	0.043	B	0.19391	0.025	T	0.04333	-1.0959	10	0.72032	D	0.01	-6.3038	13.7214	0.62730	1.0:0.0:0.0:0.0	.	143	Q13129	RLF_HUMAN	G	143	ENSP00000361857:S143G	ENSP00000361857:S143G	S	+	1	0	RLF	40429065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	1.970000	0.57323	0.456000	0.33151	AGT	.	.		0.343	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	hgsc.bcm.edu	37	1	40705106	40705106	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:40705106A>G	ENST00000372771.4	+	8	4759	c.4732A>G	c.(4732-4734)Agt>Ggt	p.S1578G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1578					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCAGATGAGTAGTGCCTATTT	0.448																																					p.S1578G		Atlas-SNP	.											.	RLF	152	.	0			c.A4732G						.						80.0	78.0	78.0					1																	40705106		2203	4300	6503	SO:0001583	missense	6018	exon8			ATGAGTAGTGCCT		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4732A>G	chr1.hg19:g.40705106A>G	ENSP00000361857:p.Ser1578Gly	110.0	0.0		42.0	13.0	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327471	0.24080	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	6.15	4.97	0.65823	.	0.273633	0.47455	D	0.000240	T	0.10423	0.0255	L	0.36672	1.1	0.31147	N	0.705943	P;P	0.38370	0.628;0.495	B;B	0.31869	0.137;0.065	T	0.07558	-1.0766	10	0.56958	D	0.05	-15.8971	10.5126	0.44870	0.7507:0.0:0.0:0.2493	.	1271;1578	F5H2M5;Q13129	.;RLF_HUMAN	G	1578;1271	ENSP00000361857:S1578G	ENSP00000361857:S1578G	S	+	1	0	RLF	40477693	0.961000	0.32948	1.000000	0.80357	0.999000	0.98932	2.645000	0.46621	2.363000	0.80096	0.523000	0.50628	AGT	.	.		0.448	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
ZFP69	339559	hgsc.bcm.edu	37	1	40961639	40961639	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:40961639T>C	ENST00000372706.1	+	6	2495	c.1489T>C	c.(1489-1491)Tgt>Cgt	p.C497R	ZFP69_ENST00000372705.3_Missense_Mutation_p.C497R|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACCTTACGAATGTAACGAATG	0.393																																					p.C497R		Atlas-SNP	.											.	.	.	.	0			c.T1489C						.						62.0	63.0	63.0					1																	40961639		2203	4300	6503	SO:0001583	missense	339559	exon6			TACGAATGTAACG	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1489T>C	chr1.hg19:g.40961639T>C	ENSP00000361791:p.Cys497Arg	105.0	0.0		90.0	7.0	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	hg19	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658079	0.67586	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	D;D	0.85258	-1.96;-1.96	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000380	D	0.95778	0.8626	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96792	0.9583	10	0.87932	D	0	-8.8513	12.4448	0.55645	0.0:0.0:0.0:1.0	.	497	Q49AA0	ZN642_HUMAN	R	497	ENSP00000361791:C497R;ENSP00000361790:C497R	ENSP00000361790:C497R	C	+	1	0	ZNF642	40734226	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.104000	0.71498	2.248000	0.74166	0.459000	0.35465	TGT	.	.		0.393	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
CFAP57	149465	hgsc.bcm.edu	37	1	43652435	43652435	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:43652435T>C	ENST00000372492.4	+	6	1351	c.1027T>C	c.(1027-1029)Tgc>Cgc	p.C343R	WDR65_ENST00000528956.1_Missense_Mutation_p.C343R	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		343										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGACGTTCTCTGCCTGTGCTT	0.512																																					p.C343R		Atlas-SNP	.											.	WDR65	76	.	0			c.T1027C						.						123.0	107.0	113.0					1																	43652435		2203	4300	6503	SO:0001583	missense	149465	exon6			GTTCTCTGCCTGT																												ENST00000372492.4:c.1027T>C	chr1.hg19:g.43652435T>C	ENSP00000361570:p.Cys343Arg	145.0	0.0		86.0	4.0	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	hg19		.	.	.	.	.	.	.	.	.	.	T	16.89	3.247482	0.59103	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.43294	0.95;3.39	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.217301	0.48286	D	0.000190	T	0.56891	0.2016	M	0.67953	2.075	0.58432	D	0.999993	P;P	0.46327	0.515;0.876	B;P	0.55508	0.269;0.777	T	0.52749	-0.8534	10	0.27082	T	0.32	.	15.91	0.79467	0.0:0.0:0.0:1.0	.	343;343	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	R	343	ENSP00000361570:C343R;ENSP00000435310:C343R	ENSP00000361570:C343R	C	+	1	0	WDR65	43425022	0.999000	0.42202	0.999000	0.59377	0.771000	0.43674	3.710000	0.54860	2.141000	0.66446	0.533000	0.62120	TGC	.	.		0.512	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
ATPAF1	64756	hgsc.bcm.edu	37	1	47118264	47118264	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:47118264A>G	ENST00000371937.4	-	6	681	c.577T>C	c.(577-579)Tcc>Ccc	p.S193P	ATPAF1_ENST00000532925.1_Missense_Mutation_p.S105P|ATPAF1_ENST00000576409.1_Missense_Mutation_p.S216P|ATPAF1_ENST00000329231.4_Missense_Mutation_p.S216P|ATPAF1_ENST00000574428.1_Missense_Mutation_p.S193P|ATPAF1_ENST00000542495.1_Missense_Mutation_p.S42P	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	193					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GTTGGACAGGACTGAGCCCGG	0.408																																					p.S216P	Melanoma(138;107 1777 21672 30337 52312)	Atlas-SNP	.											.	ATPAF1	19	.	0			c.T646C						.						114.0	102.0	106.0					1																	47118264		2203	4300	6503	SO:0001583	missense	64756	exon6			GACAGGACTGAGC	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.577T>C	chr1.hg19:g.47118264A>G	ENSP00000361005:p.Ser193Pro	148.0	0.0		81.0	4.0	NM_001042546	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	hg19		.	.	.	.	.	.	.	.	.	.	A	15.82	2.944712	0.53079	.	.	ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	T	0.46063	0.88	5.57	4.33	0.51752	.	0.302414	0.36893	N	0.002353	T	0.44435	0.1293	L	0.40543	1.245	0.30840	N	0.735728	P;D;P	0.54397	0.523;0.966;0.822	B;P;P	0.55303	0.305;0.773;0.554	T	0.45818	-0.9235	10	0.40728	T	0.16	-10.5936	9.2861	0.37758	0.7895:0.0:0.0:0.2105	.	105;193;193	B7Z7I6;A8MRA7;Q5TC12	.;.;ATPF1_HUMAN	P	193;107;42;193;105	ENSP00000361005:S193P	ENSP00000330685:S193P	S	-	1	0	ATPAF1	46890851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.177000	0.42509	2.129000	0.65627	0.454000	0.30748	TCC	.	.		0.408	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745	
ZFYVE9	9372	hgsc.bcm.edu	37	1	52705075	52705075	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:52705075T>C	ENST00000371591.1	+	3	2117	c.1986T>C	c.(1984-1986)ctT>ctC	p.L662L	ZFYVE9_ENST00000287727.3_Silent_p.L662L|ZFYVE9_ENST00000357206.2_Silent_p.L662L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	662					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GACCATGCCTTGCATTAGCTC	0.453																																					p.L662L		Atlas-SNP	.											.	ZFYVE9	131	.	0			c.T1986C						.						113.0	108.0	110.0					1																	52705075		2203	4300	6503	SO:0001819	synonymous_variant	9372	exon4			ATGCCTTGCATTA	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1986T>C	chr1.hg19:g.52705075T>C		137.0	0.0		90.0	4.0	NM_007323	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	hg19	CCDS563.1																																																																																			.	.		0.453	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
MRPL37	51253	hgsc.bcm.edu	37	1	54681856	54681856	+	Missense_Mutation	SNP	G	G	A	rs369065705		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:54681856G>A	ENST00000360840.5	+	6	1110	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	MRPL37_ENST00000336230.6_Missense_Mutation_p.V214M|MRPL37_ENST00000605337.1_Missense_Mutation_p.V345M	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	345					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.V345M(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GGTGCAGAGCGTGGGCACGGA	0.517																																					p.V345M		Atlas-SNP	.											MRPL37,caecum,carcinoma,0,1	MRPL37	36	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A						.	G	MET/VAL	0,4406		0,0,2203	176.0	155.0	162.0		1033	3.3	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRPL37	NM_016491.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	345/424	54681856	1,13005	2203	4300	6503	SO:0001583	missense	51253	exon6			CAGAGCGTGGGCA	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1033G>A	chr1.hg19:g.54681856G>A	ENSP00000354086:p.Val345Met	361.0	0.0		170.0	7.0	NM_016491	Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	hg19	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514810	0.27123	0.0	1.16E-4	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.32753	1.44;1.44	5.23	3.33	0.38152	.	0.118458	0.64402	D	0.000020	T	0.49047	0.1534	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.991	P;P;P	0.60886	0.88;0.854;0.771	T	0.53034	-0.8495	10	0.87932	D	0	-14.5998	9.371	0.38254	0.2227:0.0:0.7773:0.0	.	214;282;345	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	M	345;282;214	ENSP00000354086:V345M;ENSP00000338526:V214M	ENSP00000328799:V282M	V	+	1	0	MRPL37	54454444	0.989000	0.36119	0.963000	0.40424	0.057000	0.15508	2.009000	0.40903	1.204000	0.43247	-0.391000	0.06502	GTG	.	.		0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	
CTH	1491	hgsc.bcm.edu	37	1	70881689	70881689	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:70881689A>G	ENST00000370938.3	+	2	363	c.219A>G	c.(217-219)aaA>aaG	p.K73K	CTH_ENST00000346806.2_Silent_p.K73K|CTH_ENST00000411986.2_Silent_p.K73K|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCCTTGAAAAAGCAGTGGCAG	0.368																																					p.K73K		Atlas-SNP	.											.	CTH	48	.	0			c.A219G						.						83.0	90.0	88.0					1																	70881689		2203	4300	6503	SO:0001819	synonymous_variant	1491	exon2			TGAAAAAGCAGTG	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.219A>G	chr1.hg19:g.70881689A>G		115.0	0.0		71.0	4.0	NM_153742	O95791|Q9NX42	Silent	SNP	ENST00000370938.3	hg19	CCDS650.1																																																																																			.	.		0.368	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	
LRRC8C	84230	hgsc.bcm.edu	37	1	90180439	90180439	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:90180439A>G	ENST00000370454.4	+	3	2565	c.2310A>G	c.(2308-2310)gaA>gaG	p.E770E	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	770					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCCCTCCTGAACTGGGTGACT	0.418																																					p.E770E		Atlas-SNP	.											.	LRRC8C	73	.	0			c.A2310G						.						82.0	84.0	84.0					1																	90180439		2203	4300	6503	SO:0001819	synonymous_variant	84230	exon3			TCCTGAACTGGGT		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2310A>G	chr1.hg19:g.90180439A>G		118.0	0.0		89.0	4.0	NM_032270	B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	hg19	CCDS725.1																																																																																			.	.		0.418	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
ABCA4	24	hgsc.bcm.edu	37	1	94497407	94497407	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:94497407A>G	ENST00000370225.3	-	27	4141	c.4055T>C	c.(4054-4056)cTc>cCc	p.L1352P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1352					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACATGCTGGAGGACCAGCTG	0.647																																					p.L1352P		Atlas-SNP	.											.	ABCA4	275	.	0			c.T4055C						.						78.0	75.0	76.0					1																	94497407		2203	4300	6503	SO:0001583	missense	24	exon27			TGCTGGAGGACCA	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4055T>C	chr1.hg19:g.94497407A>G	ENSP00000359245:p.Leu1352Pro	180.0	0.0		128.0	7.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717146	0.30413	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.93547	-3.24	5.78	3.5	0.40072	.	0.993436	0.08189	N	0.984138	D	0.84875	0.5569	M	0.67700	2.07	0.09310	N	1	B	0.32543	0.375	B	0.34991	0.193	T	0.76895	-0.2790	10	0.40728	T	0.16	.	2.4174	0.04439	0.5703:0.1495:0.0807:0.1995	.	1352	P78363	ABCA4_HUMAN	P	144;1352	ENSP00000359245:L1352P	ENSP00000359245:L1352P	L	-	2	0	ABCA4	94269995	0.000000	0.05858	0.042000	0.18584	0.288000	0.27193	0.925000	0.28791	1.002000	0.39104	0.528000	0.53228	CTC	.	.		0.647	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	hgsc.bcm.edu	37	1	94502755	94502755	+	Silent	SNP	C	C	A	rs147884766	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:94502755C>A	ENST00000370225.3	-	25	3845	c.3759G>T	c.(3757-3759)acG>acT	p.T1253T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1253			T -> M (in FFM; unknown pathological significance). {ECO:0000269|PubMed:11385708}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCAGCCAGCGTCTCCTCCA	0.483																																					p.T1253T		Atlas-SNP	.											ABCA4,left_upper_lobe,carcinoma,0,1	ABCA4	275	.	0			c.G3759T						.						106.0	108.0	107.0					1																	94502755		2203	4300	6503	SO:0001819	synonymous_variant	24	exon25			AGCCAGCGTCTCC	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3759G>T	chr1.hg19:g.94502755C>A		132.0	0.0		75.0	35.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	hg19	CCDS747.1																																																																																			.	C|0.998;T|0.002		0.483	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
C1orf56	54964	hgsc.bcm.edu	37	1	151020559	151020559	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:151020559G>A	ENST00000368926.5	+	1	344	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	79						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCCTGGCTGGACCAGCGGCT	0.642																																					p.G79E	GBM(146;891 3320 6873)	Atlas-SNP	.											.	C1orf56	25	.	0			c.G236A						.						22.0	26.0	25.0					1																	151020559		2171	4251	6422	SO:0001583	missense	54964	exon1			TGGCTGGACCAGC	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.236G>A	chr1.hg19:g.151020559G>A	ENSP00000357922:p.Gly79Glu	155.0	0.0		97.0	4.0	NM_017860	B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	hg19	CCDS980.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498711	0.44455	.	.	ENSG00000143443	ENST00000368926;ENST00000433087	.	.	.	5.19	1.99	0.26369	.	0.883386	0.09540	N	0.788410	T	0.12944	0.0314	L	0.27053	0.805	0.18873	N	0.999985	P	0.43701	0.815	B	0.43251	0.413	T	0.11372	-1.0590	9	0.56958	D	0.05	-14.3663	6.8085	0.23790	0.0:0.1725:0.4539:0.3736	.	79	Q9BUN1	CA056_HUMAN	E	79	.	ENSP00000357922:G79E	G	+	2	0	C1orf56	149287183	0.510000	0.26171	0.400000	0.26346	0.046000	0.14306	0.700000	0.25601	0.684000	0.31448	0.557000	0.71058	GGA	.	.		0.642	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860	
SELENBP1	8991	hgsc.bcm.edu	37	1	151337178	151337178	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:151337178T>C	ENST00000368868.5	-	12	1351	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E	SELENBP1_ENST00000435071.1_Silent_p.E356E|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Silent_p.E462E|SELENBP1_ENST00000447402.3_Silent_p.E358E	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	420					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCACAGAGCCTTCCCTGGTGG	0.557																																					p.E462E		Atlas-SNP	.											.	SELENBP1	44	.	0			c.A1386G						.						103.0	104.0	104.0					1																	151337178		2203	4300	6503	SO:0001819	synonymous_variant	8991	exon12			AGAGCCTTCCCTG	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1260A>G	chr1.hg19:g.151337178T>C		100.0	0.0		90.0	4.0	NM_001258289	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	hg19	CCDS995.1																																																																																			.	.		0.557	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		
CD1E	913	hgsc.bcm.edu	37	1	158325760	158325760	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:158325760G>A	ENST00000368167.3	+	4	1008	c.769G>A	c.(769-771)Ggg>Agg	p.G257R	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.G167R|CD1E_ENST00000444681.2_Missense_Mutation_p.G158R|CD1E_ENST00000368156.1_Missense_Mutation_p.G167R|CD1E_ENST00000368166.3_Missense_Mutation_p.G68R|CD1E_ENST00000368161.3_Missense_Mutation_p.G257R|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Missense_Mutation_p.G68R|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G255R|CD1E_ENST00000368160.3_Missense_Mutation_p.G257R|CD1E_ENST00000452291.2_Missense_Mutation_p.G68R	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	257	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.G257W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACTCAGCGAGGGGACGTCCT	0.622																																					p.G257R		Atlas-SNP	.											CD1E,NS,carcinoma,-1,1	CD1E	129	.	1	Substitution - Missense(1)	lung(1)	c.G769A						.						114.0	110.0	111.0					1																	158325760		2203	4300	6503	SO:0001583	missense	913	exon4			CAGCGAGGGGACG	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.769G>A	chr1.hg19:g.158325760G>A	ENSP00000357149:p.Gly257Arg	342.0	1.0		251.0	67.0	NM_001042584	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	hg19	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569581|1.569581	0.28003|0.28003	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156|ENST00000368162	T;T;T;T;T;T;T;T;T;T|T	0.02812|0.02579	4.15;4.15;4.15;4.15;4.15;4.15;4.15;4.15;4.15;4.15|4.24	4.6|4.6	2.69|2.69	0.31865|0.31865	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.314836|.	0.23782|.	N|.	0.044603|.	T|T	0.03695|0.03695	0.0105|0.0105	M|M	0.83774|0.83774	2.66|2.66	0.09310|0.09310	N|N	1|1	P;D;D;D;P;P;P;P;D;D;D;D;D|.	0.89917|.	0.843;0.998;0.998;0.998;0.929;0.907;0.931;0.914;0.994;0.998;1.0;0.961;0.992|.	P;P;P;P;P;P;P;P;P;D;D;P;P|.	0.91635|.	0.787;0.901;0.901;0.901;0.872;0.877;0.603;0.723;0.864;0.944;0.999;0.797;0.832|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|7	0.66056|0.49607	D|T	0.02|0.09	-7.087|-7.087	7.2054|7.2054	0.25905|0.25905	0.2087:0.0:0.7913:0.0|0.2087:0.0:0.7913:0.0	.|.	68;158;255;257;158;167;68;68;257;257;257;68;167|.	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-6|.	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.|.	R|K	255;158;257;68;167;68;68;257;257;167|26	ENSP00000401957:G255R;ENSP00000402906:G158R;ENSP00000357149:G257R;ENSP00000416228:G68R;ENSP00000357147:G167R;ENSP00000357148:G68R;ENSP00000357146:G68R;ENSP00000357142:G257R;ENSP00000357143:G257R;ENSP00000357138:G167R|ENSP00000357144:R26K	ENSP00000357138:G167R|ENSP00000357144:R26K	G|R	+|+	1|2	0|0	CD1E|CD1E	156592384|156592384	0.001000|0.001000	0.12720|0.12720	0.099000|0.099000	0.21106|0.21106	0.019000|0.019000	0.09904|0.09904	0.503000|0.503000	0.22610|0.22610	1.174000|1.174000	0.42811|0.42811	-0.253000|-0.253000	0.11424|0.11424	GGG|AGG	.	.		0.622	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
SLAMF7	57823	hgsc.bcm.edu	37	1	160719673	160719673	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:160719673A>G	ENST00000368043.3	+	3	476	c.439A>G	c.(439-441)Acc>Gcc	p.T147A	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Missense_Mutation_p.T40A|SLAMF7_ENST00000359331.4_Missense_Mutation_p.T147A|SLAMF7_ENST00000368042.3_Missense_Mutation_p.T40A|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.T40A	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	147	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACCTGTGTGACCAATCTGAC	0.512																																					p.T147A		Atlas-SNP	.											.	SLAMF7	54	.	0			c.A439G						.						120.0	120.0	120.0					1																	160719673		2203	4300	6503	SO:0001583	missense	57823	exon3			TGTGTGACCAATC	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.439A>G	chr1.hg19:g.160719673A>G	ENSP00000357022:p.Thr147Ala	156.0	0.0		95.0	4.0	NM_021181	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	hg19	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524450	0.27299	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.41065	4.13;1.01;1.01;1.01;4.13	5.16	0.103	0.14526	Immunoglobulin-like (1);	0.926254	0.09304	N	0.820567	T	0.30603	0.0770	L	0.39898	1.24	0.09310	N	1	P;D;D;D;D;D	0.76494	0.952;0.993;0.998;0.997;0.992;0.999	P;P;D;D;P;D	0.72625	0.647;0.84;0.947;0.921;0.87;0.978	T	0.07214	-1.0784	10	0.41790	T	0.15	-5.746	3.6683	0.08264	0.5756:0.0:0.2679:0.1565	.	40;40;40;40;147;147	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	A	147;40;40;40;147	ENSP00000357022:T147A;ENSP00000357021:T40A;ENSP00000409965:T40A;ENSP00000403294:T40A;ENSP00000352281:T147A	ENSP00000352281:T147A	T	+	1	0	SLAMF7	158986297	0.001000	0.12720	0.006000	0.13384	0.118000	0.20060	0.052000	0.14163	0.097000	0.17492	0.528000	0.53228	ACC	.	.		0.512	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	
RGS4	5999	hgsc.bcm.edu	37	1	163042190	163042190	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:163042190A>G	ENST00000367909.6	+	2	390	c.50A>G	c.(49-51)aAa>aGa	p.K17R	RGS4_ENST00000421743.2_Missense_Mutation_p.K114R|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Missense_Mutation_p.K17R|RGS4_ENST00000367906.3_5'UTR|RGS4_ENST00000531057.1_Missense_Mutation_p.K17R|RGS4_ENST00000527809.1_5'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	17					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCAGTGCAAAAGATATGAAA	0.368																																					p.K114R	Ovarian(76;1257 1738 3039 6086)	Atlas-SNP	.											.	RGS4	97	.	0			c.A341G						.						56.0	55.0	56.0					1																	163042190		2203	4300	6503	SO:0001583	missense	5999	exon3			GTGCAAAAGATAT	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.50A>G	chr1.hg19:g.163042190A>G	ENSP00000356885:p.Lys17Arg	93.0	0.0		71.0	20.0	NM_001102445	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	hg19	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424432	0.83667	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000367908	T;T;D	0.88201	0.28;0.35;-2.35	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	M	0.86953	2.85	0.42174	D	0.991651	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.80764	0.99;0.991;0.994	D	0.94358	0.7585	9	0.62326	D	0.03	.	11.8394	0.52344	1.0:0.0:0.0:0.0	.	17;17;114	B1APZ3;P49798;A7XA59	.;RGS4_HUMAN;.	R	114;17;17;17	ENSP00000397181:K114R;ENSP00000356885:K17R;ENSP00000436106:K17R	ENSP00000356884:K17R	K	+	2	0	RGS4	161308814	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	6.310000	0.72830	1.890000	0.54733	0.533000	0.62120	AAA	.	.		0.368	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	
AXDND1	126859	hgsc.bcm.edu	37	1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0.0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041				p.E991Q		Atlas-SNP	.											.	AXDND1	142	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2971C						.						49.0	51.0	50.0					1																	179504037		2152	4286	6438	SO:0001583	missense	126859	exon25			GAAGAAGAACAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2971G>C	chr1.hg19:g.179504037G>C	ENSP00000356590:p.Glu991Gln	240.0	0.0		230.0	33.0	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA	.	G|1.000;|0.000		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
PRG4	10216	hgsc.bcm.edu	37	1	186275693	186275693	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:186275693A>G	ENST00000445192.2	+	7	887	c.842A>G	c.(841-843)gAg>gGg	p.E281G	PRG4_ENST00000367485.4_Missense_Mutation_p.E188G|PRG4_ENST00000367486.3_Missense_Mutation_p.E238G|PRG4_ENST00000367483.4_Missense_Mutation_p.E240G|PRG4_ENST00000367484.3_Missense_Mutation_p.E240G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	281					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GTGAATAAAGAGACAACAGTT	0.373																																					p.E281G		Atlas-SNP	.											.	PRG4	259	.	0			c.A842G						.						175.0	189.0	184.0					1																	186275693		2203	4300	6503	SO:0001583	missense	10216	exon7			ATAAAGAGACAAC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.842A>G	chr1.hg19:g.186275693A>G	ENSP00000399679:p.Glu281Gly	112.0	0.0		86.0	5.0	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	hg19	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	4.390	0.072021	0.08436	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.09911	2.93;3.33;3.25;3.09;3.33	3.81	3.81	0.43845	.	0.000000	0.42682	U	0.000665	T	0.27278	0.0669	M	0.67397	2.05	0.22666	N	0.99887	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.68943	0.961;0.961;0.915;0.961	T	0.02365	-1.1170	9	.	.	.	-11.4708	11.4546	0.50173	1.0:0.0:0.0:0.0	.	147;188;281;240	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	238;240;147;240;188;281	ENSP00000356456:E238G;ENSP00000356454:E240G;ENSP00000356453:E240G;ENSP00000356455:E188G;ENSP00000399679:E281G	.	E	+	2	0	PRG4	184542316	0.003000	0.15002	0.935000	0.37517	0.138000	0.21146	1.257000	0.32932	1.512000	0.48834	0.378000	0.23410	GAG	.	.		0.373	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
C1orf27	54953	hgsc.bcm.edu	37	1	186352261	186352261	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:186352261A>G	ENST00000287859.6	+	3	332	c.207A>G	c.(205-207)gaA>gaG	p.E69E	C1orf27_ENST00000432021.3_Silent_p.E69E|C1orf27_ENST00000419367.3_Silent_p.E69E|C1orf27_ENST00000367470.3_Silent_p.E69E	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	69						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ACTTGGATGAAGAATGGGCCA	0.368																																					p.E69E		Atlas-SNP	.											.	C1orf27	41	.	0			c.A207G						.						76.0	76.0	76.0					1																	186352261		1930	4130	6060	SO:0001819	synonymous_variant	54953	exon3			GGATGAAGAATGG	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.207A>G	chr1.hg19:g.186352261A>G		112.0	0.0		94.0	5.0	NM_001164245	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	hg19	CCDS53448.1																																																																																			.	.		0.368	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847	
GUK1	2987	hgsc.bcm.edu	37	1	228333287	228333287	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr1:228333287T>C	ENST00000366718.1	+	2	501	c.74T>C	c.(73-75)cTc>cCc	p.L25P	GUK1_ENST00000391865.3_Missense_Mutation_p.L46P|GUK1_ENST00000366728.2_Missense_Mutation_p.L46P|GUK1_ENST00000366726.1_Missense_Mutation_p.L25P|GUK1_ENST00000366723.1_Missense_Mutation_p.L46P|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366721.1_Missense_Mutation_p.L25P|GUK1_ENST00000366722.1_Missense_Mutation_p.L25P|GUK1_ENST00000312726.4_Missense_Mutation_p.L25P|GUK1_ENST00000366716.1_Missense_Mutation_p.L25P|GUK1_ENST00000366730.1_Missense_Mutation_p.L25P	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	25	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				AAGAGGCTGCTCCAGGAGCAC	0.647																																					p.L46P		Atlas-SNP	.											.	GUK1	34	.	0			c.T137C						.						54.0	47.0	50.0					1																	228333287		2203	4300	6503	SO:0001583	missense	2987	exon2			GGCTGCTCCAGGA	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.74T>C	chr1.hg19:g.228333287T>C	ENSP00000355679:p.Leu25Pro	98.0	0.0		113.0	5.0	NM_001242840	B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	hg19	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215297	0.58452	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.02	3.87	0.44632	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.78729	0.4329	H	0.94222	3.51	0.27438	N	0.953802	P;P	0.47762	0.673;0.9	B;P	0.59171	0.238;0.853	T	0.72087	-0.4396	9	0.72032	D	0.01	.	9.5048	0.39040	0.1576:0.0:0.0:0.8424	.	46;25	B4E1H6;Q16774	.;KGUA_HUMAN	P	25;46;25;25;46;46;46;25;25;91;25;25;25	ENSP00000355691:L25P;ENSP00000375738:L46P;ENSP00000355687:L25P;ENSP00000317659:L25P;ENSP00000355689:L46P;ENSP00000401832:L46P;ENSP00000355684:L46P;ENSP00000355683:L25P;ENSP00000355682:L25P;ENSP00000407604:L91P;ENSP00000355679:L25P;ENSP00000355677:L25P	ENSP00000317659:L25P	L	+	2	0	GUK1	226399910	1.000000	0.71417	0.638000	0.29380	0.886000	0.51366	7.640000	0.83355	0.724000	0.32296	0.260000	0.18958	CTC	.	.		0.647	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858	
GREB1	9687	hgsc.bcm.edu	37	2	11725969	11725969	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:11725969A>G	ENST00000381486.2	+	9	1397	c.1097A>G	c.(1096-1098)gAa>gGa	p.E366G	GREB1_ENST00000263834.5_Missense_Mutation_p.E366G|RN7SL674P_ENST00000463397.2_RNA|GREB1_ENST00000381483.2_Missense_Mutation_p.E366G|GREB1_ENST00000234142.5_Missense_Mutation_p.E366G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	366						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCTCTGGAGAACCAGTGTCT	0.537																																					p.E366G	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.A1097G						.						86.0	74.0	78.0					2																	11725969		2203	4300	6503	SO:0001583	missense	9687	exon9			CTGGAGAACCAGT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1097A>G	chr2.hg19:g.11725969A>G	ENSP00000370896:p.Glu366Gly	218.0	0.0		120.0	5.0	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621814	0.87460	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.21932	2.98;1.98;1.99;2.98	5.46	5.46	0.80206	.	0.153900	0.45126	D	0.000381	T	0.44993	0.1320	M	0.73217	2.22	0.58432	D	0.999999	D;P;D	0.71674	0.971;0.853;0.998	P;P;D	0.65684	0.745;0.584;0.937	T	0.43065	-0.9414	10	0.62326	D	0.03	-38.1138	15.5136	0.75806	1.0:0.0:0.0:0.0	.	366;366;366	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	G	366	ENSP00000370896:E366G;ENSP00000263834:E366G;ENSP00000370892:E366G;ENSP00000234142:E366G	ENSP00000234142:E366G	E	+	2	0	GREB1	11643420	1.000000	0.71417	0.924000	0.36721	0.962000	0.63368	5.761000	0.68801	2.075000	0.62263	0.528000	0.53228	GAA	.	.		0.537	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
DRC1	92749	hgsc.bcm.edu	37	2	26644239	26644239	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:26644239A>G	ENST00000288710.2	+	3	401	c.327A>G	c.(325-327)agA>agG	p.R109R		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	109					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TTCACAGGAGAGTCGAAGAAG	0.458																																					p.R109R		Atlas-SNP	.											.	CCDC164	84	.	0			c.A327G						.						84.0	82.0	83.0					2																	26644239		2203	4300	6503	SO:0001819	synonymous_variant	92749	exon3			CAGGAGAGTCGAA	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.327A>G	chr2.hg19:g.26644239A>G		136.0	0.0		95.0	4.0	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	hg19	CCDS1723.1																																																																																			.	.		0.458	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
SLC30A3	7781	hgsc.bcm.edu	37	2	27481800	27481800	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:27481800A>G	ENST00000233535.4	-	2	450	c.98T>C	c.(97-99)cTc>cCc	p.L33P	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L28P	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	33					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGTGAAGAGACTGAGGCA	0.632																																					p.L33P		Atlas-SNP	.											.	SLC30A3	39	.	0			c.T98C						.						35.0	41.0	39.0					2																	27481800		2203	4300	6503	SO:0001583	missense	7781	exon2			GTGAAGAGACTGA	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.98T>C	chr2.hg19:g.27481800A>G	ENSP00000233535:p.Leu33Pro	134.0	0.0		91.0	4.0	NM_003459	Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	hg19	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496416	0.64186	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000426924;ENST00000424577	T;T;T;T	0.81163	-0.32;-0.4;-1.18;-1.46	5.02	5.02	0.67125	.	0.000000	0.49305	D	0.000159	T	0.67069	0.2854	N	0.19112	0.55	0.53688	D	0.999975	B;B	0.20550	0.046;0.027	B;B	0.20184	0.028;0.012	T	0.62728	-0.6793	10	0.28530	T	0.3	-25.7601	11.4202	0.49976	1.0:0.0:0.0:0.0	.	28;33	F5H3B7;Q99726	.;ZNT3_HUMAN	P	33;28;20;11	ENSP00000233535:L33P;ENSP00000415226:L28P;ENSP00000393545:L20P;ENSP00000403959:L11P	ENSP00000233535:L33P	L	-	2	0	SLC30A3	27335304	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.470000	0.53100	2.008000	0.58898	0.459000	0.35465	CTC	.	.		0.632	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		
CLIP4	79745	hgsc.bcm.edu	37	2	29344378	29344378	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:29344378T>C	ENST00000320081.5	+	2	379	c.124T>C	c.(124-126)Tca>Cca	p.S42P	CLIP4_ENST00000404424.1_Missense_Mutation_p.S42P|CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000401605.1_Missense_Mutation_p.S42P	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	42										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ACCAATGCCTTCAGACTGTGG	0.383																																					p.S42P		Atlas-SNP	.											.	CLIP4	69	.	0			c.T124C						.						201.0	206.0	205.0					2																	29344378		2203	4300	6503	SO:0001583	missense	79745	exon2			ATGCCTTCAGACT	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.124T>C	chr2.hg19:g.29344378T>C	ENSP00000327009:p.Ser42Pro	145.0	0.0		99.0	4.0	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	hg19	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877838	0.72294	.	.	ENSG00000115295	ENST00000401605;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202	T;T;T;T	0.76060	-0.99;-0.67;-0.67;0.82	5.93	5.93	0.95920	.	0.210963	0.41001	D	0.000977	T	0.77177	0.4092	M	0.62723	1.935	0.58432	D	0.999995	P	0.50943	0.94	P	0.46685	0.524	T	0.80144	-0.1505	10	0.66056	D	0.02	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	42	Q8N3C7	CLIP4_HUMAN	P	42;42;42;42;43;42	ENSP00000384242:S42P;ENSP00000385594:S42P;ENSP00000327009:S42P;ENSP00000393354:S42P	ENSP00000327009:S42P	S	+	1	0	CLIP4	29197882	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	4.139000	0.58024	2.270000	0.75569	0.482000	0.46254	TCA	.	.		0.383	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
XDH	7498	hgsc.bcm.edu	37	2	31620567	31620567	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:31620567T>C	ENST00000379416.3	-	6	510	c.462A>G	c.(460-462)agA>agG	p.R154R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	154					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGAGGATGGGTCTGTAGCCTG	0.537																																					p.R154R	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.A462G						.						112.0	118.0	116.0					2																	31620567		2203	4300	6503	SO:0001819	synonymous_variant	7498	exon6			GATGGGTCTGTAG	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.462A>G	chr2.hg19:g.31620567T>C		156.0	0.0		90.0	4.0	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	hg19	CCDS1775.1																																																																																			.	.		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
NLRC4	58484	hgsc.bcm.edu	37	2	32449645	32449645	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:32449645A>G	ENST00000404025.2	-	10	3460	c.2972T>C	c.(2971-2973)tTa>tCa	p.L991S	NLRC4_ENST00000342905.6_Missense_Mutation_p.L326S|NLRC4_ENST00000402280.1_Missense_Mutation_p.L991S|NLRC4_ENST00000360906.5_Missense_Mutation_p.L991S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	991					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)					TAACTTGGATAACACTTGGCT	0.353																																					p.L991S		Atlas-SNP	.											.	NLRC4	165	.	0			c.T2972C						.						113.0	114.0	114.0					2																	32449645		2203	4300	6503	SO:0001583	missense	58484	exon9			TTGGATAACACTT	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.2972T>C	chr2.hg19:g.32449645A>G	ENSP00000385090:p.Leu991Ser	135.0	0.0		75.0	4.0	NM_001199138	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	hg19	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.921008	0.52653	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.57	1.97	0.26223	.	0.000000	0.29466	N	0.012077	T	0.32585	0.0834	L	0.27053	0.805	0.33133	D	0.543303	P;P	0.48911	0.911;0.917	B;B	0.43728	0.429;0.348	T	0.45234	-0.9275	9	0.72032	D	0.01	-2.3967	6.0271	0.19660	0.6697:0.1686:0.0:0.1618	.	326;991	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	S	991;991;326;991	ENSP00000354159:L991S;ENSP00000385428:L991S;ENSP00000339666:L326S;ENSP00000385090:L991S	ENSP00000339666:L326S	L	-	2	0	NLRC4	32303149	0.226000	0.23696	0.124000	0.21820	0.891000	0.51852	2.179000	0.42528	0.775000	0.33450	0.528000	0.53228	TTA	.	.		0.353	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
PPM1B	5495	hgsc.bcm.edu	37	2	44436409	44436409	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:44436409G>A	ENST00000282412.4	+	3	1319	c.907G>A	c.(907-909)Gat>Aat	p.D303N	PPM1B_ENST00000378551.2_Missense_Mutation_p.D303N|PPM1B_ENST00000345249.4_Missense_Mutation_p.D16N|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.D303N|PPM1B_ENST00000409432.3_Missense_Mutation_p.D303N	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	303					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGGTCTCAGATGAAGCGGT	0.363																																					p.D303N		Atlas-SNP	.											.	PPM1B	97	.	0			c.G907A						.						90.0	89.0	89.0					2																	44436409		2203	4300	6503	SO:0001583	missense	5495	exon3			GTCTCAGATGAAG	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.907G>A	chr2.hg19:g.44436409G>A	ENSP00000282412:p.Asp303Asn	54.0	0.0		25.0	4.0	NM_001033556	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	hg19	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176650	0.78564	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000345249;ENST00000409473	T;T;T;T;T;T	0.22539	1.98;1.98;1.98;1.95;1.97;3.0	5.24	5.24	0.73138	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.284278	0.40728	N	0.001024	T	0.21387	0.0515	L	0.27053	0.805	0.46981	D	0.999277	B;B;B;B;B	0.20459	0.045;0.004;0.022;0.018;0.009	B;B;B;B;B	0.32022	0.139;0.038;0.063;0.088;0.063	T	0.05131	-1.0904	10	0.34782	T	0.22	-6.4833	19.1692	0.93570	0.0:0.0:1.0:0.0	.	303;303;303;303;303	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	N	303;303;303;303;303;16;228	ENSP00000390087:D303N;ENSP00000387341:D303N;ENSP00000387287:D303N;ENSP00000282412:D303N;ENSP00000367813:D303N;ENSP00000386982:D228N	ENSP00000282412:D303N	D	+	1	0	PPM1B	44289913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.854000	0.86942	2.590000	0.87494	0.655000	0.94253	GAT	.	.		0.363	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	
GTF2A1L	11036	hgsc.bcm.edu	37	2	48872210	48872210	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:48872210T>C	ENST00000403751.3	+	5	379	c.342T>C	c.(340-342)ggT>ggC	p.G114G	GTF2A1L_ENST00000430487.2_Silent_p.G80G|STON1-GTF2A1L_ENST00000394754.1_Silent_p.G818G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G818G|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G818G|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G818G|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	114					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTTCCTGGTTATCCCATTC	0.343																																					p.G818G		Atlas-SNP	.											.	STON1-GTF2A1L	180	.	0			c.T2454C						.						116.0	116.0	116.0					2																	48872210		2203	4300	6503	SO:0001819	synonymous_variant	286749	exon7			TCCTGGTTATCCC	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.342T>C	chr2.hg19:g.48872210T>C		146.0	0.0		78.0	4.0	NM_001198593	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	hg19	CCDS46281.1																																																																																			.	.		0.343	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
PSME4	23198	hgsc.bcm.edu	37	2	54152693	54152693	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:54152693A>G	ENST00000404125.1	-	14	1847	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	598					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTTCTTTGGAACATTGGGTG	0.338																																					p.S598P		Atlas-SNP	.											.	PSME4	247	.	0			c.T1792C						.						124.0	116.0	118.0					2																	54152693		2203	4300	6503	SO:0001583	missense	23198	exon14			CTTTGGAACATTG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1792T>C	chr2.hg19:g.54152693A>G	ENSP00000384211:p.Ser598Pro	226.0	0.0		123.0	5.0	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792073	0.90453	.	.	ENSG00000068878	ENST00000404125	T	0.03772	3.81	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00763	-1.1576	10	0.54805	T	0.06	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	598	Q14997	PSME4_HUMAN	P	598	ENSP00000384211:S598P	ENSP00000384211:S598P	S	-	1	0	PSME4	54006197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.104000	0.94239	2.230000	0.72887	0.528000	0.53228	TCC	.	.		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PSME4	23198	hgsc.bcm.edu	37	2	54159837	54159837	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:54159837A>G	ENST00000404125.1	-	9	1073	c.1018T>C	c.(1018-1020)Ttt>Ctt	p.F340L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGATGGTAAAAAGATGTGATG	0.398																																					p.F340L		Atlas-SNP	.											.	PSME4	247	.	0			c.T1018C						.						129.0	117.0	121.0					2																	54159837		2203	4300	6503	SO:0001583	missense	23198	exon9			GGTAAAAAGATGT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1018T>C	chr2.hg19:g.54159837A>G	ENSP00000384211:p.Phe340Leu	145.0	0.0		79.0	4.0	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790439	0.90367	.	.	ENSG00000068878	ENST00000404125	T	0.03496	3.91	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.09423	0.0232	M	0.81497	2.545	0.80722	D	1	P	0.50156	0.932	B	0.42593	0.392	T	0.04140	-1.0974	10	0.46703	T	0.11	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	340	Q14997	PSME4_HUMAN	L	340	ENSP00000384211:F340L	ENSP00000374643:F340L	F	-	1	0	PSME4	54013341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.262000	0.95591	2.311000	0.77944	0.533000	0.62120	TTT	.	.		0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PNPT1	87178	hgsc.bcm.edu	37	2	55906857	55906857	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:55906857A>G	ENST00000447944.2	-	8	725	c.639T>C	c.(637-639)acT>acC	p.T213T		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	213					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTAAATTTAAAGTACTAGAAG	0.328																																					p.T213T		Atlas-SNP	.											.	PNPT1	68	.	0			c.T639C						.						105.0	107.0	106.0					2																	55906857		2201	4299	6500	SO:0001819	synonymous_variant	87178	exon8			ATTTAAAGTACTA	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.639T>C	chr2.hg19:g.55906857A>G		144.0	0.0		59.0	4.0	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	hg19	CCDS1856.1																																																																																			.	.		0.328	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
PUS10	150962	hgsc.bcm.edu	37	2	61175205	61175205	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:61175205C>T	ENST00000316752.6	-	16	1685	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	PUS10_ENST00000407787.1_Missense_Mutation_p.R475H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	475					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAAGTGGAGGCGGAAGTGGTG	0.542																																					p.R475H		Atlas-SNP	.											.	PUS10	49	.	0			c.G1424A						.						159.0	160.0	160.0					2																	61175205		2203	4300	6503	SO:0001583	missense	150962	exon16			TGGAGGCGGAAGT	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1424G>A	chr2.hg19:g.61175205C>T	ENSP00000326003:p.Arg475His	208.0	0.0		109.0	5.0	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	hg19	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514692	0.27123	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.88431	-2.38;-2.38	5.86	4.96	0.65561	Pseudouridine synthase, catalytic domain (1);	0.220456	0.49916	N	0.000133	D	0.83982	0.5372	L	0.55834	1.745	0.80722	D	1	P;P	0.34684	0.463;0.463	B;B	0.27076	0.076;0.076	T	0.81165	-0.1057	10	0.15952	T	0.53	8.0589	14.4899	0.67645	0.0:0.9271:0.0:0.0729	.	475;475	A8K6R4;Q3MIT2	.;PUS10_HUMAN	H	475	ENSP00000326003:R475H;ENSP00000386074:R475H	ENSP00000326003:R475H	R	-	2	0	PUS10	61028709	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	2.736000	0.47385	1.557000	0.49525	0.650000	0.86243	CGC	.	.		0.542	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
ZNF638	27332	hgsc.bcm.edu	37	2	71592804	71592804	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:71592804G>T	ENST00000409544.1	+	6	2593	c.1963G>T	c.(1963-1965)Gtg>Ttg	p.V655L	ZNF638_ENST00000377802.2_Missense_Mutation_p.V655L|ZNF638_ENST00000355812.3_Missense_Mutation_p.V655L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V655L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	655					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGTAAACAGGTGTCTGATAA	0.363																																					p.V655L		Atlas-SNP	.											.	ZNF638	179	.	0			c.G1963T						.						48.0	47.0	47.0					2																	71592804		2203	4300	6503	SO:0001583	missense	27332	exon6			AAACAGGTGTCTG	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1963G>T	chr2.hg19:g.71592804G>T	ENSP00000386433:p.Val655Leu	198.0	0.0		118.0	47.0	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	hg19	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063785	0.20067	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72505	-0.07;-0.66;0.51;-0.06;1.51;1.51	5.69	-1.65	0.08291	.	1.967430	0.01694	N	0.026819	T	0.55305	0.1912	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.23806	0.03;0.091;0.029;0.017;0.022;0.029	B;B;B;B;B;B	0.23574	0.005;0.047;0.012;0.025;0.017;0.011	T	0.36212	-0.9757	10	0.29301	T	0.29	2.5262	5.8202	0.18524	0.4791:0.1386:0.3823:0.0	.	655;761;655;655;655;655	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	L	655;761;234;655;655;655;655	ENSP00000386669:V655L;ENSP00000438189:V761L;ENSP00000348066:V655L;ENSP00000367033:V655L;ENSP00000264447:V655L;ENSP00000386433:V655L	ENSP00000264447:V655L	V	+	1	0	ZNF638	71446312	0.002000	0.14202	0.014000	0.15608	0.821000	0.46438	-0.248000	0.08854	-0.135000	0.11495	0.563000	0.77884	GTG	.	.		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ALMS1	7840	hgsc.bcm.edu	37	2	73716837	73716837	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:73716837A>G	ENST00000264448.6	+	10	7859	c.7748A>G	c.(7747-7749)aAg>aGg	p.K2583R	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.K2541R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2583					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCCATGAAAAGGGATGTTTC	0.458																																					p.K2583R		Atlas-SNP	.											.	ALMS1	384	.	0			c.A7748G						.						124.0	118.0	120.0					2																	73716837		1918	4116	6034	SO:0001583	missense	7840	exon10			ATGAAAAGGGATG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7748A>G	chr2.hg19:g.73716837A>G	ENSP00000264448:p.Lys2583Arg	118.0	0.0		50.0	22.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242566	0.39598	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.10860	2.83;2.83	4.45	3.31	0.37934	.	0.000000	0.52532	D	0.000080	T	0.09949	0.0244	L	0.48642	1.525	0.80722	D	1	P;P;P	0.41597	0.756;0.756;0.756	B;B;B	0.39805	0.31;0.31;0.31	T	0.08229	-1.0732	10	0.51188	T	0.08	.	6.6531	0.22973	0.8956:0.0:0.1044:0.0	.	2583;2541;2583	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	R	2541;2583	ENSP00000386627:K2541R;ENSP00000264448:K2583R	ENSP00000264448:K2583R	K	+	2	0	ALMS1	73570345	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.674000	0.37544	1.041000	0.40125	0.528000	0.53228	AAG	.	.		0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
WDR33	55339	hgsc.bcm.edu	37	2	128480841	128480841	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:128480841T>C	ENST00000322313.4	-	12	1435	c.1277A>G	c.(1276-1278)gAt>gGt	p.D426G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	426					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTCTACTCCATCTTCAGACAT	0.353																																					p.D426G		Atlas-SNP	.											.	WDR33	136	.	0			c.A1277G						.						151.0	163.0	158.0					2																	128480841		2203	4300	6503	SO:0001583	missense	55339	exon12			ACTCCATCTTCAG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1277A>G	chr2.hg19:g.128480841T>C	ENSP00000325377:p.Asp426Gly	107.0	0.0		85.0	4.0	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447507	0.63178	.	.	ENSG00000136709	ENST00000322313	D	0.90069	-2.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.91720	0.5388	10	0.42905	T	0.14	-14.7764	15.4363	0.75149	0.0:0.0:0.0:1.0	.	426	Q9C0J8	WDR33_HUMAN	G	426	ENSP00000325377:D426G	ENSP00000325377:D426G	D	-	2	0	WDR33	128197311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.259000	0.78381	2.091000	0.63221	0.533000	0.62120	GAT	.	.		0.353	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
KYNU	8942	hgsc.bcm.edu	37	2	143799616	143799616	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:143799616T>C	ENST00000264170.4	+	14	1531	c.1273T>C	c.(1273-1275)Tgt>Cgt	p.C425R	KYNU_ENST00000409512.1_Splice_Site_p.C425R	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTCCCCACAGTGTGACAAGCG	0.348																																					p.C425R		Atlas-SNP	.											.	KYNU	110	.	0			c.T1273C						.						129.0	127.0	127.0					2																	143799616		2203	4299	6502	SO:0001630	splice_region_variant	8942	exon15			CCACAGTGTGACA	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1273-1T>C	chr2.hg19:g.143799616T>C		158.0	0.0		71.0	4.0	NM_001199241		Missense_Mutation	SNP	ENST00000264170.4	hg19	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188161	0.57909	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.54866	0.55;0.55	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.090646	0.85682	D	0.000000	T	0.75917	0.3915	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.80989	-0.1136	9	.	.	.	.	11.4247	0.50003	0.0:0.0:0.0:1.0	.	425	Q16719	KYNU_HUMAN	R	425	ENSP00000264170:C425R;ENSP00000386731:C425R	.	C	+	1	0	KYNU	143516086	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.820000	0.55693	2.263000	0.75096	0.528000	0.53228	TGT	.	.		0.348	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	Missense_Mutation
NEB	4703	hgsc.bcm.edu	37	2	152392260	152392260	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:152392260A>G	ENST00000172853.10	-	114	16301	c.16154T>C	c.(16153-16155)gTt>gCt	p.V5385A	NEB_ENST00000409198.1_Missense_Mutation_p.V5385A|NEB_ENST00000397345.3_Missense_Mutation_p.V7086A|NEB_ENST00000604864.1_Missense_Mutation_p.V7086A|NEB_ENST00000603639.1_Missense_Mutation_p.V7086A|NEB_ENST00000427231.2_Missense_Mutation_p.V7086A			P20929	NEBU_HUMAN	nebulin	5385					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAGTCGGCAACATACTTGAA	0.343																																					p.V7086A		Atlas-SNP	.											.	NEB	1697	.	0			c.T21257C						.						99.0	93.0	95.0					2																	152392260		1850	4085	5935	SO:0001583	missense	4703	exon142			TCGGCAACATACT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16154T>C	chr2.hg19:g.152392260A>G	ENSP00000172853:p.Val5385Ala	123.0	0.0		90.0	4.0	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	A	14.02	2.410359	0.42715	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.11821	3.32;3.31;3.31;3.18;3.32;2.74	6.17	-5.92	0.02261	.	0.513957	0.21451	N	0.074327	T	0.12220	0.0297	N	0.14661	0.345	0.30100	N	0.807546	B;P	0.46859	0.068;0.885	B;P	0.57244	0.041;0.816	T	0.09207	-1.0685	10	0.48119	T	0.1	.	10.9905	0.47547	0.2316:0.0:0.057:0.7114	.	5385;1816	P20929;Q14215	NEBU_HUMAN;.	A	5385;7086;7086;1434;1816;5385;174	ENSP00000386259:V5385A;ENSP00000380505:V7086A;ENSP00000416578:V7086A;ENSP00000410961:V1816A;ENSP00000172853:V5385A;ENSP00000405167:V174A	ENSP00000172853:V5385A	V	-	2	0	NEB	152100506	0.192000	0.23301	0.007000	0.13788	0.585000	0.36419	0.528000	0.23002	-0.822000	0.04306	0.533000	0.62120	GTT	.	.		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	hgsc.bcm.edu	37	2	152534626	152534626	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:152534626G>A	ENST00000172853.10	-	33	3478	c.3331C>T	c.(3331-3333)Ctg>Ttg	p.L1111L	NEB_ENST00000409198.1_Silent_p.L1111L|NEB_ENST00000397345.3_Silent_p.L1111L|NEB_ENST00000604864.1_Silent_p.L1111L|NEB_ENST00000603639.1_Silent_p.L1111L|NEB_ENST00000427231.2_Silent_p.L1111L			P20929	NEBU_HUMAN	nebulin	1111					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATGAACCAGTTTAGGGTCA	0.378																																					p.L1111L		Atlas-SNP	.											.	NEB	1697	.	0			c.C3331T						.						77.0	71.0	73.0					2																	152534626		1837	4087	5924	SO:0001819	synonymous_variant	4703	exon33			GAACCAGTTTAGG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3331C>T	chr2.hg19:g.152534626G>A		382.0	1.0		227.0	94.0	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19																																																																																				.	.		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
CACNB4	785	hgsc.bcm.edu	37	2	152732942	152732942	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:152732942T>C	ENST00000539935.1	-	5	586	c.519A>G	c.(517-519)ggA>ggG	p.G173G	CACNB4_ENST00000360283.6_Silent_p.G139G|CACNB4_ENST00000534999.1_Silent_p.G139G|CACNB4_ENST00000397327.2_Silent_p.G126G|CACNB4_ENST00000427385.1_Silent_p.G155G|CACNB4_ENST00000201943.5_Silent_p.G173G	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	173					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACGTACCCTCCGTGAAAAC	0.408																																					p.G173G		Atlas-SNP	.											.	CACNB4	108	.	0			c.A519G						.						129.0	121.0	124.0					2																	152732942		1888	4112	6000	SO:0001819	synonymous_variant	785	exon5			GTACCCTCCGTGA	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.519A>G	chr2.hg19:g.152732942T>C		124.0	0.0		100.0	5.0	NM_001145798	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	hg19	CCDS46426.1																																																																																			.	.		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
FMNL2	114793	hgsc.bcm.edu	37	2	153435453	153435453	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:153435453C>G	ENST00000288670.9	+	8	1124	c.757C>G	c.(757-759)Cta>Gta	p.L253V		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	253	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGAGATTGCACTAAGCCTGAA	0.388																																					p.L253V		Atlas-SNP	.											.	FMNL2	75	.	0			c.C757G						.						81.0	79.0	79.0					2																	153435453		1929	4166	6095	SO:0001583	missense	114793	exon8			ATTGCACTAAGCC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.757C>G	chr2.hg19:g.153435453C>G	ENSP00000288670:p.Leu253Val	116.0	0.0		50.0	19.0	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	hg19	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813000	0.70912	.	.	ENSG00000157827	ENST00000288670	D	0.89552	-2.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	M	0.87180	2.865	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93768	0.7072	10	0.33141	T	0.24	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	253	Q96PY5-3	.	V	253	ENSP00000288670:L253V	ENSP00000288670:L253V	L	+	1	2	FMNL2	153143699	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.847000	0.62867	2.700000	0.92200	0.563000	0.77884	CTA	.	.		0.388	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
FMNL2	114793	hgsc.bcm.edu	37	2	153486415	153486415	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:153486415A>G	ENST00000475377.2	+	7	871	c.671A>G	c.(670-672)gAt>gGt	p.D224G	FMNL2_ENST00000288670.9_Missense_Mutation_p.D849G			Q96PY5	FMNL2_HUMAN	formin-like 2	849	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAGAGTTTAGATCTGGTGAGT	0.388																																					p.D849G		Atlas-SNP	.											.	FMNL2	75	.	0			c.A2546G						.						94.0	86.0	89.0					2																	153486415		1883	4100	5983	SO:0001583	missense	114793	exon20			GTTTAGATCTGGT	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.671A>G	chr2.hg19:g.153486415A>G	ENSP00000418959:p.Asp224Gly	141.0	0.0		87.0	4.0	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	hg19		.	.	.	.	.	.	.	.	.	.	A	20.2	3.942041	0.73557	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.63417	-0.04;-0.04	5.61	5.61	0.85477	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.93763	3.455	0.80722	D	1	D;P;D	0.69078	0.997;0.949;0.991	D;P;D	0.79108	0.992;0.869;0.968	D	0.86461	0.1779	10	0.42905	T	0.14	.	15.759	0.78063	1.0:0.0:0.0:0.0	.	849;330;849	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	G	849;330;224	ENSP00000288670:D849G;ENSP00000418959:D224G	ENSP00000288670:D849G	D	+	2	0	FMNL2	153194661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.231000	0.95317	2.269000	0.75478	0.533000	0.62120	GAT	.	.		0.388	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905	
MARCH7	64844	hgsc.bcm.edu	37	2	160615791	160615791	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:160615791T>C	ENST00000259050.4	+	7	1960	c.1838T>C	c.(1837-1839)cTt>cCt	p.L613P	MARCH7_ENST00000409591.1_Missense_Mutation_p.L575P|MARCH7_ENST00000539065.1_Missense_Mutation_p.L557P|MARCH7_ENST00000409175.1_Missense_Mutation_p.L613P	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	613					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAGTTGGAGCTTAACCTGGAG	0.318																																					p.L613P		Atlas-SNP	.											.	MARCH7	48	.	0			c.T1838C						.						132.0	134.0	133.0					2																	160615791		2203	4298	6501	SO:0001583	missense	64844	exon7			TGGAGCTTAACCT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1838T>C	chr2.hg19:g.160615791T>C	ENSP00000259050:p.Leu613Pro	158.0	0.0		87.0	4.0	NM_022826	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	hg19	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006535	0.74932	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.50277	2.36;2.39;2.36;2.37;0.75	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38531	1.155	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.997	T	0.63453	-0.6634	10	0.72032	D	0.01	-14.4281	15.876	0.79162	0.0:0.0:0.0:1.0	.	557;575;613	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	P	613;557;613;575;46	ENSP00000386830:L613P;ENSP00000442992:L557P;ENSP00000259050:L613P;ENSP00000387238:L575P;ENSP00000391493:L46P	ENSP00000259050:L613P	L	+	2	0	MARCH7	160324037	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.852000	0.86927	2.200000	0.70718	0.454000	0.30748	CTT	.	.		0.318	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826	
SCN3A	6328	hgsc.bcm.edu	37	2	166019086	166019086	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:166019086T>C	ENST00000360093.3	-	8	1438	c.947A>G	c.(946-948)aAg>aGg	p.K316R	SCN3A_ENST00000283254.7_Missense_Mutation_p.K316R|SCN3A_ENST00000409101.3_Missense_Mutation_p.K316R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	316					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGTAATCCTTCCAGTTAAA	0.348																																					p.K316R		Atlas-SNP	.											.	SCN3A	544	.	0			c.A947G						.						120.0	122.0	121.0					2																	166019086		2203	4300	6503	SO:0001583	missense	6328	exon8			TAATCCTTCCAGT	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.947A>G	chr2.hg19:g.166019086T>C	ENSP00000353206:p.Lys316Arg	138.0	0.0		76.0	4.0	NM_001081676	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	hg19		.	.	.	.	.	.	.	.	.	.	T	11.48	1.650437	0.29336	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96041	-3.89;-3.88;-3.84;-3.71	5.82	5.82	0.92795	Ion transport (1);	0.234157	0.29980	N	0.010706	D	0.92136	0.7507	L	0.33189	0.99	0.80722	D	1	B;B;B;B;B	0.31485	0.077;0.325;0.001;0.001;0.145	B;B;B;B;B	0.28849	0.042;0.095;0.019;0.019;0.036	D	0.90956	0.4809	10	0.49607	T	0.09	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	316;316;316;316;316	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	316	ENSP00000353206:K316R;ENSP00000283254:K316R;ENSP00000386726:K316R;ENSP00000403348:K316R	ENSP00000283254:K316R	K	-	2	0	SCN3A	165727332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.590000	0.46154	2.222000	0.72286	0.533000	0.62120	AAG	.	.		0.348	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
XIRP2	129446	hgsc.bcm.edu	37	2	168099632	168099632	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:168099632T>C	ENST00000409195.1	+	9	1819	c.1730T>C	c.(1729-1731)aTt>aCt	p.I577T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I355T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I577T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	402					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						GTGCAGTCCATTAGATGGATC	0.388																																					p.I577T		Atlas-SNP	.											.	XIRP2	914	.	0			c.T1730C						.						68.0	67.0	68.0					2																	168099632		1909	4115	6024	SO:0001583	missense	129446	exon9			AGTCCATTAGATG	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.1730T>C	chr2.hg19:g.168099632T>C	ENSP00000386840:p.Ile577Thr	191.0	0.0		89.0	5.0	NM_152381	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	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673191	0.47781	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.22743	1.94;1.94;1.94	5.54	4.38	0.52667	.	0.338576	0.34986	N	0.003532	T	0.14960	0.0361	N	0.22421	0.69	0.38926	D	0.957832	P;B;B	0.35226	0.491;0.435;0.01	B;B;B	0.34536	0.185;0.116;0.005	T	0.07385	-1.0775	10	0.66056	D	0.02	-2.2586	11.1645	0.48535	0.0:0.0731:0.0:0.9269	.	402;402;355	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	577;577;355	ENSP00000386840:I577T;ENSP00000295237:I577T;ENSP00000387255:I355T	ENSP00000295237:I577T	I	+	2	0	XIRP2	167807878	1.000000	0.71417	0.900000	0.35374	0.979000	0.70002	4.141000	0.58038	0.936000	0.37367	0.533000	0.62120	ATT	.	.		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	hgsc.bcm.edu	37	2	170103365	170103365	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:170103365C>T	ENST00000263816.3	-	21	3325	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	LRP2_ENST00000443831.1_Missense_Mutation_p.E877K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1014	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)"""	GGGTCCCCCTCGCATGTCAAG	0.517																																					p.E1014K		Atlas-SNP	.											.	LRP2	751	.	0			c.G3040A						.						116.0	105.0	109.0					2																	170103365		2203	4300	6503	SO:0001583	missense	4036	exon21			CCCCCTCGCATGT		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.3040G>A	chr2.hg19:g.170103365C>T	ENSP00000263816:p.Glu1014Lys	259.0	0.0		149.0	51.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	4.510	0.094617	0.08681	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.44881	0.91;0.91	6.03	4.22	0.49857	Epidermal growth factor-like (1);	0.250775	0.39615	N	0.001301	T	0.23886	0.0578	L	0.29908	0.895	0.26234	N	0.978977	B;P	0.36412	0.452;0.552	B;B	0.29785	0.107;0.042	T	0.19451	-1.0305	10	0.05721	T	0.95	.	11.8159	0.52211	0.1263:0.6124:0.2613:0.0	.	877;1014	E9PC35;P98164	.;LRP2_HUMAN	K	1014;877	ENSP00000263816:E1014K;ENSP00000409813:E877K	ENSP00000263816:E1014K	E	-	1	0	LRP2	169811611	0.076000	0.21285	0.004000	0.12327	0.081000	0.17604	0.568000	0.23623	0.852000	0.35287	0.655000	0.94253	GAG	.	.		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
KLHL23	151230	hgsc.bcm.edu	37	2	170598012	170598012	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:170598012A>G	ENST00000392647.2	+	3	1575	c.1331A>G	c.(1330-1332)aAc>aGc	p.N444S	KLHL23_ENST00000272797.4_Missense_Mutation_p.N444S|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	444										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TCCGATATCAACGAATGGAGC	0.433																																					p.N444S		Atlas-SNP	.											.	KLHL23	52	.	0			c.A1331G						.						167.0	143.0	151.0					2																	170598012		2203	4300	6503	SO:0001583	missense	151230	exon3			ATATCAACGAATG	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1331A>G	chr2.hg19:g.170598012A>G	ENSP00000376419:p.Asn444Ser	189.0	0.0		99.0	4.0	NM_144711	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	hg19	CCDS2236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.68|18.68	3.676295|3.676295	0.67928|0.67928	.|.	.|.	ENSG00000213160|ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875|ENST00000448589	D;D;D|.	0.82526|.	-1.62;-1.62;-1.62|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Kelch-type beta propeller (1);|.	0.143602|.	0.64402|.	D|.	0.000012|.	T|T	0.77336|0.77336	0.4115|0.4115	M|M	0.80508|0.80508	2.5|2.5	0.29743|.	N|.	0.836963|.	B|.	0.26445|.	0.149|.	B|.	0.36186|.	0.219|.	T|T	0.79431|0.79431	-0.1806|-0.1806	9|4	0.72032|.	D|.	0.01|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	444|.	Q8NBE8|.	KLH23_HUMAN|.	S|A	444;444;265|4	ENSP00000272797:N444S;ENSP00000376419:N444S;ENSP00000394732:N265S|.	ENSP00000272797:N444S|.	N|T	+|+	2|1	0|0	KLHL23|KLHL23	170306258|170306258	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.931000|0.931000	0.56810|0.56810	9.339000|9.339000	0.96797|0.96797	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	AAC|ACG	.	.		0.433	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
RAPGEF4	11069	hgsc.bcm.edu	37	2	173852991	173852991	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:173852991T>C	ENST00000397081.3	+	13	1361	c.1218T>C	c.(1216-1218)atT>atC	p.I406I	RAPGEF4_ENST00000538974.1_Silent_p.I235I|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Silent_p.I253I|RAPGEF4_ENST00000264111.6_Silent_p.I405I|RAPGEF4_ENST00000540783.1_Silent_p.I253I|RAPGEF4_ENST00000535187.1_Silent_p.I186I|RAPGEF4_ENST00000409036.1_Silent_p.I406I|RAPGEF4_ENST00000397087.3_Silent_p.I262I	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	406					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGTAGTCATTTACGGCAAGG	0.338																																					p.I406I		Atlas-SNP	.											.	RAPGEF4	103	.	0			c.T1218C						.						124.0	113.0	116.0					2																	173852991		1814	4087	5901	SO:0001819	synonymous_variant	11069	exon13			AGTCATTTACGGC	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1218T>C	chr2.hg19:g.173852991T>C		74.0	0.0		57.0	4.0	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	hg19	CCDS42775.1																																																																																			.	.		0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
AGPS	8540	hgsc.bcm.edu	37	2	178310274	178310274	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:178310274A>G	ENST00000264167.4	+	8	936	c.790A>G	c.(790-792)Aat>Gat	p.N264D	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	264	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTGCAACAGAATCGAATTCT	0.363																																					p.N264D		Atlas-SNP	.											.	AGPS	56	.	0			c.A790G						.						88.0	85.0	86.0					2																	178310274		2203	4300	6503	SO:0001630	splice_region_variant	8540	exon8			CAACAGAATCGAA	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.790-1A>G	chr2.hg19:g.178310274A>G		144.0	0.0		79.0	4.0	NM_003659	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	hg19	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901825	0.72754	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.84730	-1.89	5.87	5.87	0.94306	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.145736	0.64402	D	0.000011	D	0.83667	0.5304	L	0.43646	1.37	0.80722	D	1	B	0.31581	0.329	B	0.39738	0.308	T	0.80502	-0.1354	9	.	.	.	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	264	O00116	ADAS_HUMAN	D	264;134	ENSP00000264167:N264D	.	N	+	1	0	AGPS	178018520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.243000	0.73865	0.533000	0.62120	AAT	.	.		0.363	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		Missense_Mutation
OSBPL6	114880	hgsc.bcm.edu	37	2	179247841	179247841	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:179247841T>C	ENST00000190611.4	+	17	2088	c.1712T>C	c.(1711-1713)cTg>cCg	p.L571P	OSBPL6_ENST00000409045.3_Missense_Mutation_p.L540P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L575P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L596P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L535P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L535P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	571					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AACATTAACCTGTGGAATATC	0.522																																					p.L596P		Atlas-SNP	.											.	OSBPL6	178	.	0			c.T1787C						.						89.0	92.0	91.0					2																	179247841		2203	4300	6503	SO:0001583	missense	114880	exon18			TTAACCTGTGGAA	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1712T>C	chr2.hg19:g.179247841T>C	ENSP00000190611:p.Leu571Pro	169.0	0.0		74.0	4.0	NM_001201480	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	hg19	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837154	0.91117	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	H	0.98238	4.18	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.999	D;D;D;D;D	0.91635	0.997;0.993;0.989;0.999;0.991	D	0.85128	0.0973	10	0.87932	D	0	-9.8421	16.5885	0.84745	0.0:0.0:0.0:1.0	.	540;575;535;596;571	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	596;535;540;571;535;575	ENSP00000376293:L596P;ENSP00000352713:L535P;ENSP00000387248:L540P;ENSP00000190611:L571P;ENSP00000386885:L535P;ENSP00000318723:L575P	ENSP00000190611:L571P	L	+	2	0	OSBPL6	178956087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG	.	.		0.522	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	hgsc.bcm.edu	37	2	179434805	179434805	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:179434805T>C	ENST00000591111.1	-	276	71355	c.71131A>G	c.(71131-71133)Aca>Gca	p.T23711A	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16287A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T25352A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22784A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16479A|TTN_ENST00000359218.5_Missense_Mutation_p.T16412A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23711	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCATCTTGTCCATCTAATG	0.428																																					p.T25352A		Atlas-SNP	.											TTN_ENST00000359218,right_upper_lobe,carcinoma,0,5	TTN	18412	.	0			c.A76054G						.						129.0	120.0	123.0					2																	179434805		1951	4146	6097	SO:0001583	missense	7273	exon326			ATCTTGTCCATCT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71131A>G	chr2.hg19:g.179434805T>C	ENSP00000465570:p.Thr23711Ala	107.0	0.0		71.0	3.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.53	1.665009	0.29604	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.87	3.41	0.39046	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53738	0.1815	M	0.64170	1.965	0.49299	D	0.999773	P;P;P;P	0.38420	0.63;0.489;0.63;0.489	B;B;B;B	0.42495	0.389;0.389;0.389;0.273	T	0.54649	-0.8262	9	0.87932	D	0	.	11.1163	0.48262	0.247:0.0:0.0:0.7529	.	16287;16412;16479;23711	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22784;16287;16479;16412;16285	ENSP00000343764:T22784A;ENSP00000434586:T16287A;ENSP00000340554:T16479A;ENSP00000352154:T16412A	ENSP00000340554:T16479A	T	-	1	0	TTN	179143051	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.119000	0.64679	0.430000	0.26230	-0.341000	0.08007	ACA	.	.		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179640606	179640606	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:179640606T>C	ENST00000591111.1	-	28	6209	c.5985A>G	c.(5983-5985)gaA>gaG	p.E1995E	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.E1949E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E1995E|TTN_ENST00000342992.6_Silent_p.E1995E|TTN_ENST00000342175.6_Silent_p.E1949E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.E1995E|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.E1949E			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGCAGCTCTTCCGACTCTT	0.443																																					p.E1995E		Atlas-SNP	.											.	TTN	18412	.	0			c.A5985G						.						114.0	121.0	118.0					2																	179640606		2203	4300	6503	SO:0001819	synonymous_variant	7273	exon28			CAGCTCTTCCGAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5985A>G	chr2.hg19:g.179640606T>C		225.0	0.0		97.0	4.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
C2orf88	84281	hgsc.bcm.edu	37	2	191064868	191064868	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:191064868G>A	ENST00000340623.4	+	2	693	c.282G>A	c.(280-282)ggG>ggA	p.G94G	C2orf88_ENST00000409870.1_Silent_p.G94G|C2orf88_ENST00000396974.2_Silent_p.G94G|C2orf88_ENST00000443551.2_Silent_p.G94G	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	94						plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						AGAGTGAGGGGCCTTGAGGCT	0.428																																					p.G94G		Atlas-SNP	.											.	C2orf88	7	.	0			c.G282A						.						132.0	129.0	130.0					2																	191064868		2027	4195	6222	SO:0001819	synonymous_variant	84281	exon2			TGAGGGGCCTTGA	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.282G>A	chr2.hg19:g.191064868G>A		233.0	0.0		135.0	23.0	NM_001042519	D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	hg19	CCDS42792.1																																																																																			.	.		0.428	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321	
HECW2	57520	hgsc.bcm.edu	37	2	197092980	197092980	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:197092980T>C	ENST00000260983.3	-	22	3947		c.e22-2		HECW2_ENST00000409111.1_Splice_Site	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAATCCAGCCTGTAACAAAAA	0.363																																					.		Atlas-SNP	.											.	HECW2	239	.	0			c.3765-2A>G						.						51.0	53.0	52.0					2																	197092980		2202	4300	6502	SO:0001630	splice_region_variant	57520	exon23			CCAGCCTGTAACA	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3765-2A>G	chr2.hg19:g.197092980T>C		148.0	0.0		87.0	4.0	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Splice_Site	SNP	ENST00000260983.3	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026504	0.75390	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6649	0.77221	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECW2	196801225	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.868000	0.87116	2.281000	0.76405	0.533000	0.62120	.	.	.		0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Intron
CCDC150	284992	hgsc.bcm.edu	37	2	197539019	197539019	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:197539019A>G	ENST00000389175.4	+	10	1219	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.T30A|CCDC150_ENST00000423093.2_Missense_Mutation_p.T30A	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	362										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATGCTTCAGACTGTTACTAT	0.408																																					p.T362A		Atlas-SNP	.											.	CCDC150	96	.	0			c.A1084G						.						91.0	90.0	90.0					2																	197539019		1899	4128	6027	SO:0001583	missense	284992	exon10			CTTCAGACTGTTA		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1084A>G	chr2.hg19:g.197539019A>G	ENSP00000373827:p.Thr362Ala	98.0	0.0		77.0	4.0	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	hg19	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	1.409	-0.576000	0.03882	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.28666	1.6	5.17	1.01	0.19927	.	0.349077	0.25112	N	0.033056	T	0.12518	0.0304	N	0.16903	0.455	0.20638	N	0.999876	B;B	0.09022	0.002;0.002	B;B	0.11329	0.001;0.006	T	0.28650	-1.0037	10	0.07813	T	0.8	0.0669	3.4833	0.07610	0.4741:0.0:0.3503:0.1756	.	30;362	B4DZ03;Q8NCX0	.;CC150_HUMAN	A	30;362;30	ENSP00000373827:T362A	ENSP00000272831:T30A	T	+	1	0	CCDC150	197247264	0.503000	0.26115	0.742000	0.31022	0.846000	0.48090	1.470000	0.35354	0.019000	0.15079	-0.353000	0.07706	ACT	.	.		0.408	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
GTF3C3	9330	hgsc.bcm.edu	37	2	197654717	197654717	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:197654717A>G	ENST00000263956.3	-	5	702	c.613T>C	c.(613-615)Ttt>Ctt	p.F205L	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Missense_Mutation_p.F205L	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	205					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATCAACTCAAACTGCAATGAT	0.378																																					p.F205L		Atlas-SNP	.											.	GTF3C3	96	.	0			c.T613C						.						117.0	111.0	113.0					2																	197654717		2203	4300	6503	SO:0001583	missense	9330	exon5			ACTCAAACTGCAA	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.613T>C	chr2.hg19:g.197654717A>G	ENSP00000263956:p.Phe205Leu	156.0	0.0		84.0	4.0	NM_001206774	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	hg19	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	A	33	5.277666	0.95459	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.36157	1.27;1.27	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.057710	0.64402	N	0.000001	T	0.47655	0.1457	L	0.42008	1.315	0.80722	D	1	P;D	0.67145	0.532;0.996	B;D	0.63192	0.348;0.912	T	0.27872	-1.0061	10	0.15066	T	0.55	-26.7547	15.8985	0.79353	1.0:0.0:0.0:0.0	.	205;205	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	L	205	ENSP00000263956:F205L;ENSP00000386465:F205L	ENSP00000263956:F205L	F	-	1	0	GTF3C3	197362962	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.202000	0.95026	2.169000	0.68431	0.374000	0.22700	TTT	.	.		0.378	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
PLCL1	5334	hgsc.bcm.edu	37	2	198948734	198948734	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:198948734G>A	ENST00000428675.1	+	2	891	c.493G>A	c.(493-495)Gag>Aag	p.E165K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E67K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E67*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCATAAAAGAGATCAGACT	0.453																																					p.E165K		Atlas-SNP	.											PLCL1_ENST00000428675,NS,carcinoma,0,3	PLCL1	358	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G493A						.						91.0	98.0	96.0					2																	198948734		2203	4300	6503	SO:0001583	missense	5334	exon2			ATAAAAGAGATCA	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.493G>A	chr2.hg19:g.198948734G>A	ENSP00000402861:p.Glu165Lys	124.0	0.0		69.0	3.0	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	hg19	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	35	5.585576	0.96578	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65732	-0.17;-0.17	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.79522	0.4460	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61722	0.893;0.893	T	0.79160	-0.1918	9	.	.	.	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	165;91	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	165;67	ENSP00000402861:E165K;ENSP00000414138:E67K	.	E	+	1	0	PLCL1	198656979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.800000	0.99124	2.836000	0.97738	0.655000	0.94253	GAG	.	.		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
SPATS2L	26010	hgsc.bcm.edu	37	2	201334662	201334662	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:201334662A>G	ENST00000358677.5	+	11	1230	c.983A>G	c.(982-984)gAc>gGc	p.D328G	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.D328G|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D268G|SPATS2L_ENST00000409140.3_Missense_Mutation_p.D328G|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D358G|SPATS2L_ENST00000409988.3_Missense_Mutation_p.D328G|SPATS2L_ENST00000409151.1_Missense_Mutation_p.D336G|SPATS2L_ENST00000360760.5_Missense_Mutation_p.D259G|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D328G	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	328						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CGTAAATATGACGAGGAGCTC	0.498																																					p.D328G		Atlas-SNP	.											.	SPATS2L	88	.	0			c.A983G						.						59.0	57.0	58.0					2																	201334662		1892	4125	6017	SO:0001583	missense	26010	exon11			AATATGACGAGGA	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.983A>G	chr2.hg19:g.201334662A>G	ENSP00000351503:p.Asp328Gly	174.0	0.0		125.0	6.0	NM_001100423	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	hg19	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138924	0.77775	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000003	T	0.75852	0.3906	M	0.64170	1.965	0.48040	D	0.999577	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.997	T	0.78583	-0.2148	9	0.87932	D	0	-24.1067	13.6569	0.62344	1.0:0.0:0.0:0.0	.	358;259;328	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	G	328;328;328;268;328;259;328;259;358;336	.	ENSP00000351503:D328G	D	+	2	0	SPATS2L	201042907	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.160000	0.77495	2.218000	0.71995	0.533000	0.62120	GAC	.	.		0.498	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
KCTD18	130535	hgsc.bcm.edu	37	2	201369657	201369657	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:201369657T>C	ENST00000359878.3	-	3	696	c.186A>G	c.(184-186)ggA>ggG	p.G62G	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Silent_p.G62G	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	62	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TAAATAGACGTCCATCACGGT	0.393																																					p.G62G		Atlas-SNP	.											.	KCTD18	44	.	0			c.A186G						.						87.0	77.0	80.0					2																	201369657		2203	4300	6503	SO:0001819	synonymous_variant	130535	exon3			TAGACGTCCATCA	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.186A>G	chr2.hg19:g.201369657T>C		167.0	0.0		85.0	6.0	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Silent	SNP	ENST00000359878.3	hg19	CCDS2330.1																																																																																			.	.		0.393	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
ADAM23	8745	hgsc.bcm.edu	37	2	207414830	207414830	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:207414830T>C	ENST00000264377.3	+	9	1207	c.879T>C	c.(877-879)ggT>ggC	p.G293G	ADAM23_ENST00000374416.1_Silent_p.G293G|ADAM23_ENST00000374415.3_Silent_p.G293G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	293					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CATCACGTGGTATATTTGAAG	0.308																																					p.G293G	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											.	ADAM23	239	.	0			c.T879C						.						83.0	83.0	83.0					2																	207414830		2202	4296	6498	SO:0001819	synonymous_variant	8745	exon9			ACGTGGTATATTT	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.879T>C	chr2.hg19:g.207414830T>C		160.0	0.0		92.0	4.0	NM_003812	A2RU59	Silent	SNP	ENST00000264377.3	hg19	CCDS2369.1																																																																																			.	.		0.308	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
UNC80	285175	hgsc.bcm.edu	37	2	210837964	210837964	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:210837964G>A	ENST00000439458.1	+	55	8439	c.8359G>A	c.(8359-8361)Gct>Act	p.A2787T	UNC80_ENST00000272845.6_Missense_Mutation_p.A2782T|UNC80_ENST00000539183.1_Missense_Mutation_p.A233T	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2787					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAAGGGCTGGCTGAGTCCAC	0.507																																					p.A2787T		Atlas-SNP	.											.	UNC80	280	.	0			c.G8359A						.						61.0	69.0	67.0					2																	210837964		692	1591	2283	SO:0001583	missense	285175	exon55			GGGCTGGCTGAGT	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.8359G>A	chr2.hg19:g.210837964G>A	ENSP00000391088:p.Ala2787Thr	199.0	0.0		106.0	42.0	NM_032504	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	hg19	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242648	0.95272	.	.	ENSG00000144406	ENST00000439458;ENST00000272845;ENST00000333907;ENST00000539183	T;T	0.32515	1.45;1.46	5.0	5.0	0.66597	.	.	.	.	.	T	0.42854	0.1221	N	0.22421	0.69	0.52099	D	0.999942	D;D	0.67145	0.996;0.996	D;D	0.79784	0.993;0.987	T	0.22034	-1.0228	9	0.36615	T	0.2	.	18.8532	0.92241	0.0:0.0:1.0:0.0	.	2782;2787	C9J1U3;Q8N2C7	.;UNC80_HUMAN	T	2787;2782;313;233	ENSP00000391088:A2787T;ENSP00000272845:A2782T	ENSP00000272845:A2782T	A	+	1	0	UNC80	210546209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.564000	0.98151	2.769000	0.95229	0.655000	0.94253	GCT	.	.		0.507	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
MARCH4	57574	hgsc.bcm.edu	37	2	217124210	217124210	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:217124210C>T	ENST00000273067.4	-	4	2824	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	353						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGCAGGGGTGCCTGCGGTCTC	0.632																																					p.G353D		Atlas-SNP	.											.	MARCH4	50	.	0			c.G1058A						.						52.0	53.0	53.0					2																	217124210		2202	4300	6502	SO:0001583	missense	57574	exon4			GGGGTGCCTGCGG	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1058G>A	chr2.hg19:g.217124210C>T	ENSP00000273067:p.Gly353Asp	166.0	0.0		101.0	34.0	NM_020814	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	hg19	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403292	0.11754	.	.	ENSG00000144583	ENST00000273067	T	0.14893	2.47	5.62	2.81	0.32909	.	0.656708	0.14823	N	0.296336	T	0.11452	0.0279	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32903	-0.9889	10	0.25751	T	0.34	.	7.58	0.27959	0.0:0.5806:0.2718:0.1476	.	353	Q9P2E8	MARH4_HUMAN	D	353	ENSP00000273067:G353D	ENSP00000273067:G353D	G	-	2	0	MARCH4	216832455	0.989000	0.36119	0.024000	0.17045	0.091000	0.18340	1.148000	0.31614	0.305000	0.22832	0.561000	0.74099	GGC	.	.		0.632	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
DNER	92737	hgsc.bcm.edu	37	2	230272034	230272034	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:230272034G>T	ENST00000341772.4	-	10	1771	c.1637C>A	c.(1636-1638)cCc>cAc	p.P546H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	546	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTTAGCGCAGGGATCCTTGTA	0.537																																					p.P546H		Atlas-SNP	.											.	DNER	129	.	0			c.C1637A						.						122.0	105.0	111.0					2																	230272034		2203	4300	6503	SO:0001583	missense	92737	exon10			GCGCAGGGATCCT	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1637C>A	chr2.hg19:g.230272034G>T	ENSP00000345229:p.Pro546His	84.0	0.0		44.0	4.0	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	hg19	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672538	0.67928	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.96136	-3.92	5.6	5.6	0.85130	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96965	0.9704	10	0.59425	D	0.04	.	18.3815	0.90452	0.0:0.0:1.0:0.0	.	546	Q8NFT8	DNER_HUMAN	H	546;264	ENSP00000345229:P546H	ENSP00000345229:P546H	P	-	2	0	DNER	229980278	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.123000	0.77176	2.642000	0.89623	0.563000	0.77884	CCC	.	.		0.537	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
CHRND	1144	hgsc.bcm.edu	37	2	233400022	233400022	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:233400022G>T	ENST00000258385.3	+	12	1586	c.1554G>T	c.(1552-1554)taG>taT	p.*518Y	CHRND_ENST00000543200.1_Nonstop_Mutation_p.*503Y|CHRND_ENST00000457943.2_Nonstop_Mutation_p.*324Y	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GCTTCATCTAGGGTGGGCCTG	0.612																																					p.X518Y		Atlas-SNP	.											.	CHRND	67	.	0			c.G1554T						.						58.0	59.0	59.0					2																	233400022		2203	4300	6503	SO:0001578	stop_lost	1144	exon12			CATCTAGGGTGGG	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1554G>T	chr2.hg19:g.233400022G>T	ENSP00000258385:p.*518Tyrext*13	62.0	0.0		60.0	4.0	NM_000751	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	hg19	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	8.413	0.844661	0.16963	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	.	.	.	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.611	0.51059	0.083:0.0:0.917:0.0	.	.	.	.	Y	503;518;324	.	.	X	+	3	2	CHRND	233108266	1.000000	0.71417	0.128000	0.21923	0.182000	0.23217	3.220000	0.51207	1.091000	0.41335	0.655000	0.94253	TAG	.	.		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
HJURP	55355	hgsc.bcm.edu	37	2	234756059	234756059	+	Missense_Mutation	SNP	A	A	G	rs200818956	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:234756059A>G	ENST00000411486.2	-	5	451	c.386T>C	c.(385-387)gTt>gCt	p.V129A	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	129					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCCCAAGCAACTGACTCTTC	0.507																																					p.V129A		Atlas-SNP	.											.	HJURP	72	.	0			c.T386C						.						119.0	101.0	107.0					2																	234756059		2203	4300	6503	SO:0001583	missense	55355	exon5			CAAGCAACTGACT		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.386T>C	chr2.hg19:g.234756059A>G	ENSP00000414109:p.Val129Ala	211.0	0.0		87.0	4.0	NM_018410	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	hg19	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564497	0.27915	.	.	ENSG00000123485	ENST00000411486;ENST00000454020	T;T	0.34859	3.14;1.34	3.05	-5.09	0.02920	.	.	.	.	.	T	0.20659	0.0497	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.41734	-0.9492	9	0.06365	T	0.9	1.8914	6.851	0.24014	0.2619:0.1633:0.5747:0.0	.	129	Q8NCD3	HJURP_HUMAN	A	129;88	ENSP00000414109:V129A;ENSP00000414051:V88A	ENSP00000414109:V129A	V	-	2	0	HJURP	234420798	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.421000	0.07053	-1.231000	0.02557	0.482000	0.46254	GTT	.	A|0.999;C|0.001		0.507	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
HDLBP	3069	hgsc.bcm.edu	37	2	242194881	242194881	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr2:242194881C>T	ENST00000391975.1	-	8	1215	c.988G>A	c.(988-990)Gag>Aag	p.E330K	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Missense_Mutation_p.E330K|HDLBP_ENST00000391976.2_Missense_Mutation_p.E330K	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	330	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)		GGTGGGATCTCAACGGAAACT	0.478																																					p.E330K		Atlas-SNP	.											.	HDLBP	118	.	0			c.G988A						.						155.0	142.0	147.0					2																	242194881		2203	4300	6503	SO:0001583	missense	3069	exon8			GGATCTCAACGGA		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.988G>A	chr2.hg19:g.242194881C>T	ENSP00000375836:p.Glu330Lys	265.0	0.0		82.0	4.0	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	hg19	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650954	0.87958	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931	T;T;T	0.27720	1.65;1.65;1.65	6.17	6.17	0.99709	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62895	-0.6757	10	0.51188	T	0.08	-36.6558	20.8794	0.99867	0.0:1.0:0.0:0.0	.	330;330	B2R5V9;Q00341	.;VIGLN_HUMAN	K	330	ENSP00000375836:E330K;ENSP00000375837:E330K;ENSP00000312042:E330K	ENSP00000312042:E330K	E	-	1	0	HDLBP	241843554	1.000000	0.71417	0.980000	0.43619	0.031000	0.12232	7.755000	0.85180	2.941000	0.99782	0.655000	0.94253	GAG	.	.		0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
EDEM1	9695	hgsc.bcm.edu	37	3	5252876	5252876	+	Missense_Mutation	SNP	G	G	C	rs148682616		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:5252876G>C	ENST00000256497.4	+	10	1788	c.1655G>C	c.(1654-1656)aGt>aCt	p.S552T	EDEM1_ENST00000445686.1_Missense_Mutation_p.S357T	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	552					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TTCTTTCTCAGTGAGACCTGT	0.448																																					p.S552T		Atlas-SNP	.											.	EDEM1	45	.	0			c.G1655C						.						111.0	103.0	106.0					3																	5252876		2203	4300	6503	SO:0001583	missense	9695	exon10			TTCTCAGTGAGAC	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1655G>C	chr3.hg19:g.5252876G>C	ENSP00000256497:p.Ser552Thr	151.0	0.0		73.0	31.0	NM_014674	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	hg19	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777636	0.90195	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.74002	-0.8;-0.8	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92807	0.6261	10	0.72032	D	0.01	-17.1796	19.1382	0.93436	0.0:0.0:1.0:0.0	.	552	Q92611	EDEM1_HUMAN	T	552;357	ENSP00000256497:S552T;ENSP00000394099:S357T	ENSP00000256497:S552T	S	+	2	0	EDEM1	5227876	1.000000	0.71417	0.978000	0.43139	0.796000	0.44982	7.451000	0.80668	2.505000	0.84491	0.655000	0.94253	AGT	.	G|1.000;A|0.000		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
ATG7	10533	hgsc.bcm.edu	37	3	11354826	11354826	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:11354826T>C	ENST00000354449.3	+	6	485	c.460T>C	c.(460-462)Tgt>Cgt	p.C154R	ATG7_ENST00000354956.5_Missense_Mutation_p.C154R|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	154					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTGCCCTCTGTCTTCCAGA	0.353																																					p.C154R		Atlas-SNP	.											.	ATG7	56	.	0			c.T460C						.						130.0	122.0	125.0					3																	11354826		2203	4300	6503	SO:0001583	missense	10533	exon6			GCCCTCTGTCTTC	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.460T>C	chr3.hg19:g.11354826T>C	ENSP00000346437:p.Cys154Arg	123.0	0.0		93.0	4.0	NM_001136031	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437864	0.43326	.	.	ENSG00000197548	ENST00000451513;ENST00000354956;ENST00000354449	T;T;T	0.41400	1.0;1.0;1.0	6.03	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.68952	2.095	0.80722	D	1	P;P	0.45126	0.851;0.768	B;B	0.39840	0.311;0.165	T	0.18999	-1.0319	10	0.22706	T	0.39	-14.4518	9.9443	0.41600	0.0:0.0775:0.0:0.9225	.	154;154	O95352-2;O95352	.;ATG7_HUMAN	R	154	ENSP00000415223:C154R;ENSP00000347042:C154R;ENSP00000346437:C154R	ENSP00000346437:C154R	C	+	1	0	ATG7	11329826	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	6.578000	0.74032	1.104000	0.41587	-0.256000	0.11100	TGT	.	.		0.353	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	
EFHB	151651	hgsc.bcm.edu	37	3	19921261	19921261	+	Silent	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:19921261C>T	ENST00000295824.9	-	13	2525	c.2364G>A	c.(2362-2364)ctG>ctA	p.L788L	EFHB_ENST00000344838.4_Silent_p.L658L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	788							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTTCATCAGACAGTTTGACAC	0.308																																					p.L788L		Atlas-SNP	.											.	EFHB	186	.	0			c.G2364A						.						158.0	148.0	152.0					3																	19921261		2203	4300	6503	SO:0001819	synonymous_variant	151651	exon13			ATCAGACAGTTTG	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2364G>A	chr3.hg19:g.19921261C>T		132.0	0.0		61.0	5.0	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	hg19	CCDS33715.2																																																																																			.	.		0.308	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
ZNF385D	79750	hgsc.bcm.edu	37	3	21606170	21606170	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:21606170G>A	ENST00000281523.2	-	3	690	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	58						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTCTGAATCGGGTCCATCTGT	0.358																																					p.P58S		Atlas-SNP	.											ZNF385D,NS,carcinoma,0,1	ZNF385D	93	.	1	Substitution - Missense(1)	lung(1)	c.C172T						.						109.0	107.0	108.0					3																	21606170		2203	4300	6503	SO:0001583	missense	79750	exon3			GAATCGGGTCCAT	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.172C>T	chr3.hg19:g.21606170G>A	ENSP00000281523:p.Pro58Ser	82.0	0.0		43.0	4.0	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977372	0.92982	.	.	ENSG00000151789	ENST00000281523	T	0.41400	1.0	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.61703	1.905	0.52099	D	0.99994	D	0.89917	1.0	D	0.80764	0.994	T	0.63157	-0.6700	10	0.59425	D	0.04	-3.427	20.3632	0.98871	0.0:0.0:1.0:0.0	.	58	Q9H6B1	Z385D_HUMAN	S	58	ENSP00000281523:P58S	ENSP00000281523:P58S	P	-	1	0	ZNF385D	21581174	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.866000	0.99616	2.826000	0.97356	0.561000	0.74099	CCG	.	.		0.358	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
LRRFIP2	9209	hgsc.bcm.edu	37	3	37151023	37151023	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:37151023T>C	ENST00000336686.4	-	11	684	c.604A>G	c.(604-606)Agt>Ggt	p.S202G	LRRFIP2_ENST00000421307.1_Missense_Mutation_p.S202G|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	202	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAAACCAGACTGGCACTTCTC	0.428																																					p.S202G		Atlas-SNP	.											.	LRRFIP2	71	.	1	Whole gene deletion(1)	ovary(1)	c.A604G						.						125.0	120.0	121.0					3																	37151023		2203	4300	6503	SO:0001583	missense	9209	exon12			CCAGACTGGCACT	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.604A>G	chr3.hg19:g.37151023T>C	ENSP00000338727:p.Ser202Gly	139.0	0.0		90.0	4.0	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	hg19	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383358	0.61845	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.093513	0.64402	D	0.000001	T	0.46073	0.1374	N	0.08118	0	0.40005	D	0.975219	D	0.58268	0.982	D	0.67548	0.952	T	0.47005	-0.9150	10	0.20046	T	0.44	-11.3299	15.2426	0.73482	0.0:0.0:0.0:1.0	.	202	Q9Y608	LRRF2_HUMAN	G	202	ENSP00000392217:S202G;ENSP00000338727:S202G	ENSP00000338727:S202G	S	-	1	0	LRRFIP2	37126027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	AGT	.	.		0.428	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
TOPAZ1	375337	hgsc.bcm.edu	37	3	44364606	44364606	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:44364606T>C	ENST00000309765.4	+	18	4662	c.4494T>C	c.(4492-4494)taT>taC	p.Y1498Y		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1498						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										TCTCACAATATAGCCTTCTTT	0.328																																					p.Y1498Y		Atlas-SNP	.											.	.	.	.	0			c.T4494C						.						53.0	42.0	45.0					3																	44364606		692	1590	2282	SO:0001819	synonymous_variant	375337	exon18			ACAATATAGCCTT	AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.4494T>C	chr3.hg19:g.44364606T>C		71.0	0.0		46.0	4.0	NM_001145030		Silent	SNP	ENST00000309765.4	hg19	CCDS46809.1																																																																																			.	.		0.328	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343247.1	NM_001145030	
TGM4	7047	hgsc.bcm.edu	37	3	44952888	44952888	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:44952888T>C	ENST00000296125.4	+	13	1971	c.1903T>C	c.(1903-1905)Tct>Cct	p.S635P		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	635					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACTACAGACCTCTGACCATGG	0.448																																					p.S635P		Atlas-SNP	.											.	TGM4	82	.	0			c.T1903C						.						107.0	103.0	104.0					3																	44952888		2203	4300	6503	SO:0001583	missense	7047	exon13			CAGACCTCTGACC	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1903T>C	chr3.hg19:g.44952888T>C	ENSP00000296125:p.Ser635Pro	147.0	0.0		91.0	4.0	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795320	0.31777	.	.	ENSG00000163810	ENST00000296125	T	0.70045	-0.45	2.72	-0.36	0.12568	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.384179	0.18202	U	0.148473	T	0.39064	0.1064	N	0.08118	0	0.09310	N	1	P	0.41524	0.753	B	0.36922	0.236	T	0.33523	-0.9865	10	0.46703	T	0.11	.	7.3662	0.26774	0.3471:0.0:0.0:0.6529	.	635	P49221	TGM4_HUMAN	P	635	ENSP00000296125:S635P	ENSP00000296125:S635P	S	+	1	0	TGM4	44927892	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	-0.100000	0.10990	-0.399000	0.07668	0.460000	0.39030	TCT	.	.		0.448	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
SETD2	29072	hgsc.bcm.edu	37	3	47155420	47155420	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:47155420A>G	ENST00000409792.3	-	5	4703	c.4661T>C	c.(4660-4662)gTc>gCc	p.V1554A		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1554	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.V1051G(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTGAGTATGACTTCCACATC	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.V1554A		Atlas-SNP	.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	SETD2_ENST00000409792,caecum,carcinoma,0,3	SETD2	721	.	1	Substitution - Missense(1)	kidney(1)	c.T4661C						.						139.0	140.0	139.0					3																	47155420		2203	4300	6503	SO:0001583	missense	29072	exon5			AGTATGACTTCCA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4661T>C	chr3.hg19:g.47155420A>G	ENSP00000386759:p.Val1554Ala	123.0	0.0		83.0	5.0	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678586	0.47886	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.83837	-1.77	5.06	5.06	0.68205	SET domain (2);	0.000000	0.49916	D	0.000136	T	0.81922	0.4925	M	0.80847	2.515	0.80722	D	1	B;B	0.24675	0.109;0.109	B;B	0.21546	0.035;0.035	T	0.79867	-0.1622	10	0.45353	T	0.12	.	9.6237	0.39737	0.9207:0.0:0.0793:0.0	.	1554;1554	F2Z317;Q9BYW2	.;SETD2_HUMAN	A	1554	ENSP00000386759:V1554A	ENSP00000386759:V1554A	V	-	2	0	SETD2	47130424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.142000	0.77339	2.036000	0.60181	0.477000	0.44152	GTC	.	.		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
COL7A1	1294	hgsc.bcm.edu	37	3	48622492	48622492	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:48622492T>C	ENST00000328333.8	-	32	4059	c.3952A>G	c.(3952-3954)Acc>Gcc	p.T1318A	COL7A1_ENST00000454817.1_Missense_Mutation_p.T1318A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1318	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGGGGTCCCAGGATTC	0.677																																					p.T1318A		Atlas-SNP	.											.	COL7A1	320	.	0			c.A3952G						.						31.0	37.0	35.0					3																	48622492		2202	4300	6502	SO:0001583	missense	1294	exon32			CAGGGGTCCCAGG	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3952A>G	chr3.hg19:g.48622492T>C	ENSP00000332371:p.Thr1318Ala	185.0	0.0		119.0	8.0	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	9.997	1.232417	0.22626	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93426	-3.22;-3.22	5.03	-3.56	0.04626	.	1.083700	0.07200	N	0.857311	T	0.78464	0.4287	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69064	-0.5244	10	0.09843	T	0.71	.	4.86	0.13579	0.4991:0.2203:0.0:0.2806	.	1318	Q02388	CO7A1_HUMAN	A	1318	ENSP00000332371:T1318A;ENSP00000412569:T1318A	ENSP00000332371:T1318A	T	-	1	0	COL7A1	48597496	0.000000	0.05858	0.003000	0.11579	0.052000	0.14988	0.018000	0.13422	-0.360000	0.08138	0.533000	0.62120	ACC	.	.		0.677	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
FOXP1	27086	hgsc.bcm.edu	37	3	71026863	71026863	+	Silent	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:71026863C>T	ENST00000318789.4	-	16	1884	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	FOXP1_ENST00000491238.1_Silent_p.A455A|FOXP1_ENST00000498215.1_Silent_p.A453A|FOXP1_ENST00000493089.1_Silent_p.A452A|FOXP1_ENST00000475937.1_Silent_p.A453A|FOXP1_ENST00000468577.1_Silent_p.A453A|FOXP1_ENST00000484350.1_Silent_p.A377A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	453					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTGGTTCTGCGCAATATCTG	0.343			T	PAX5	ALL																																p.A455A		Atlas-SNP	.		Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	FOXP1	104	.	0			c.G1365A						.						121.0	125.0	124.0					3																	71026863		2203	4300	6503	SO:0001819	synonymous_variant	27086	exon11			GTTCTGCGCAATA	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1359G>A	chr3.hg19:g.71026863C>T		127.0	0.0		77.0	4.0	NM_001244815	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	hg19	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	5.336	0.247240	0.10130	.	.	ENSG00000114861	ENST00000318796	.	.	.	6.17	6.17	0.99709	.	0.142185	0.64402	D	0.000004	T	0.67767	0.2928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69826	-0.5040	6	0.87932	D	0	.	10.6191	0.45470	0.0:0.7865:0.143:0.0705	.	.	.	.	T	353	.	ENSP00000319243:A353T	A	-	1	0	FOXP1	71109553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.209000	0.32357	2.941000	0.99782	0.655000	0.94253	GCA	.	.		0.343	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
IMPG2	50939	hgsc.bcm.edu	37	3	100986353	100986353	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:100986353A>G	ENST00000193391.7	-	9	1096		c.e9+1			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCCAAAAAGTACCTGTCATTT	0.353																																					.		Atlas-SNP	.											.	IMPG2	164	.	0			c.908+2T>C						.						67.0	67.0	67.0					3																	100986353		2203	4300	6503	SO:0001630	splice_region_variant	50939	exon10			AAAAGTACCTGTC	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.908+1T>C	chr3.hg19:g.100986353A>G		145.0	0.0		80.0	4.0	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Splice_Site	SNP	ENST00000193391.7	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310365	0.81358	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9575	0.58438	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMPG2	102469043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.399000	0.44495	2.371000	0.80710	0.533000	0.62120	.	.	.		0.353	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		Intron
DZIP3	9666	hgsc.bcm.edu	37	3	108367792	108367792	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:108367792A>G	ENST00000361582.3	+	17	2220	c.1990A>G	c.(1990-1992)Aag>Gag	p.K664E	DZIP3_ENST00000463306.1_Missense_Mutation_p.K664E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	664	Poly-Lys.				protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAAAAGAAGAAGACTAAGAA	0.239																																					p.K664E		Atlas-SNP	.											.	DZIP3	111	.	0			c.A1990G						.						29.0	28.0	28.0					3																	108367792		2058	4163	6221	SO:0001583	missense	9666	exon17			AAGAAGAAGACTA	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1990A>G	chr3.hg19:g.108367792A>G	ENSP00000355028:p.Lys664Glu	132.0	0.0		95.0	4.0	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	a	13.95	2.388769	0.42308	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.31247	1.5;1.5	3.93	3.93	0.45458	.	0.266695	0.26727	N	0.022819	T	0.21881	0.0527	L	0.40543	1.245	0.22096	N	0.999363	B;B	0.31318	0.319;0.155	B;B	0.24155	0.051;0.051	T	0.13899	-1.0492	10	0.41790	T	0.15	-4.5124	9.4659	0.38813	1.0:0.0:0.0:0.0	.	282;664	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	664	ENSP00000355028:K664E;ENSP00000419981:K664E	ENSP00000355028:K664E	K	+	1	0	DZIP3	109850482	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.118000	0.41949	2.001000	0.58596	0.459000	0.35465	AAG	.	.		0.239	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
DPPA4	55211	hgsc.bcm.edu	37	3	109052833	109052833	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:109052833G>T	ENST00000335658.6	-	2	116	c.62C>A	c.(61-63)tCc>tAc	p.S21Y	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	21					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTCTCTGTGGAGGTCCACTG	0.463																																					p.S21Y		Atlas-SNP	.											.	DPPA4	56	.	0			c.C62A						.						93.0	84.0	87.0					3																	109052833		2203	4300	6503	SO:0001583	missense	55211	exon2			TCTGTGGAGGTCC	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.62C>A	chr3.hg19:g.109052833G>T	ENSP00000335306:p.Ser21Tyr	142.0	0.0		94.0	4.0	NM_018189	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	hg19	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215112	0.39102	.	.	ENSG00000121570	ENST00000335658	T	0.25749	1.78	3.81	1.9	0.25705	.	2.779620	0.01301	N	0.010294	T	0.38825	0.1055	L	0.44542	1.39	0.09310	N	1	D;P;D	0.65815	0.995;0.492;0.978	P;B;P	0.59221	0.854;0.121;0.598	T	0.09907	-1.0653	9	.	.	.	-0.4121	6.1554	0.20334	0.0:0.2904:0.5215:0.1881	.	11;21;21	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	Y	21	ENSP00000335306:S21Y	.	S	-	2	0	DPPA4	110535523	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.269000	0.18589	0.515000	0.28320	0.551000	0.68910	TCC	.	.		0.463	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	
MAATS1	89876	hgsc.bcm.edu	37	3	119421983	119421983	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:119421983A>G	ENST00000273390.5	+	1	115	c.38A>G	c.(37-39)cAg>cGg	p.Q13R	MAATS1_ENST00000463700.1_Missense_Mutation_p.Q13R	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	13						mitochondrion (GO:0005739)											CCCCAGGCCCAGCCGCAGGTG	0.642																																					p.Q13R		Atlas-SNP	.											.	.	.	.	0			c.A38G						.						33.0	36.0	35.0					3																	119421983		2202	4296	6498	SO:0001583	missense	89876	exon1			AGGCCCAGCCGCA	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.38A>G	chr3.hg19:g.119421983A>G	ENSP00000273390:p.Gln13Arg	201.0	0.0		124.0	6.0	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	hg19	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	9.225	1.034311	0.19590	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.41758	2.01;0.99	3.8	1.33	0.21861	.	1.033970	0.07688	N	0.938177	T	0.26304	0.0642	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.25257	-1.0137	10	0.23891	T	0.37	-14.938	5.4403	0.16504	0.7571:0.0:0.2429:0.0	.	13;13;13	Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	.;.;.	R	13	ENSP00000273390:Q13R;ENSP00000419489:Q13R	ENSP00000273390:Q13R	Q	+	2	0	C3orf15	120904673	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.087000	0.11215	0.176000	0.19873	0.460000	0.39030	CAG	.	.		0.642	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
PARP14	54625	hgsc.bcm.edu	37	3	122419251	122419251	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:122419251T>C	ENST00000474629.2	+	6	2116	c.1850T>C	c.(1849-1851)cTc>cCc	p.L617P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGAAAGGGCTCACTCACAAT	0.393																																					p.L617P		Atlas-SNP	.											.	PARP14	242	.	0			c.T1850C						.						37.0	36.0	36.0					3																	122419251		1860	4100	5960	SO:0001583	missense	54625	exon6			AAGGGCTCACTCA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1850T>C	chr3.hg19:g.122419251T>C	ENSP00000418194:p.Leu617Pro	108.0	0.0		58.0	4.0	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811876	0.50527	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.12255	2.7	5.35	1.11	0.20524	.	0.541730	0.17633	N	0.167331	T	0.21347	0.0514	M	0.66939	2.045	0.23168	N	0.998187	P;P	0.50617	0.937;0.8	P;B	0.52267	0.694;0.347	T	0.07028	-1.0794	10	0.72032	D	0.01	.	6.3179	0.21200	0.3792:0.0:0.1224:0.4985	.	617;617	Q460N5-4;Q460N5	.;PAR14_HUMAN	P	617;536	ENSP00000418194:L617P	ENSP00000381228:L536P	L	+	2	0	PARP14	123901941	0.038000	0.19896	0.000000	0.03702	0.006000	0.05464	2.488000	0.45276	0.014000	0.14944	0.533000	0.62120	CTC	.	.		0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
HSPBAP1	79663	hgsc.bcm.edu	37	3	122459296	122459296	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:122459296T>G	ENST00000306103.2	-	8	1506	c.1363A>C	c.(1363-1365)Act>Cct	p.T455P	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	455						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GTTTGAGGAGTCGTAGTAGTA	0.398																																					p.T455P		Atlas-SNP	.											.	HSPBAP1	32	.	0			c.A1363C						.						209.0	189.0	196.0					3																	122459296		2203	4300	6503	SO:0001583	missense	79663	exon8			GAGGAGTCGTAGT	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1363A>C	chr3.hg19:g.122459296T>G	ENSP00000302562:p.Thr455Pro	448.0	0.0		281.0	16.0	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	hg19	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	9.069	0.996441	0.19043	.	.	ENSG00000169087	ENST00000306103	T	0.30981	1.51	5.65	1.49	0.22878	.	0.698441	0.13917	N	0.353847	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.29579	-1.0007	10	0.19147	T	0.46	.	3.7375	0.08517	0.343:0.3436:0.0:0.3133	.	455	Q96EW2	HBAP1_HUMAN	P	455	ENSP00000302562:T455P	ENSP00000302562:T455P	T	-	1	0	HSPBAP1	123941986	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.066000	0.14489	0.168000	0.19655	-0.119000	0.15052	ACT	.	.		0.398	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
CCDC14	64770	hgsc.bcm.edu	37	3	123634213	123634213	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:123634213C>T	ENST00000488653.2	-	13	2365	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	CCDC14_ENST00000310351.4_Missense_Mutation_p.D599N|CCDC14_ENST00000485727.1_Missense_Mutation_p.D559N|CCDC14_ENST00000433542.2_Missense_Mutation_p.D718N|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.D559N			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	759					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTCCCTTCATCAGAATCCTGT	0.398																																					p.D718N		Atlas-SNP	.											.	CCDC14	97	.	0			c.G2152A						.						118.0	121.0	120.0					3																	123634213		2203	4300	6503	SO:0001583	missense	64770	exon12			CTTCATCAGAATC	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2275G>A	chr3.hg19:g.123634213C>T	ENSP00000420180:p.Asp759Asn	127.0	0.0		78.0	4.0	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	hg19		.	.	.	.	.	.	.	.	.	.	C	17.79	3.475338	0.63737	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.23	5.23	0.72850	.	0.253594	0.33813	N	0.004522	T	0.53594	0.1806	L	0.50333	1.59	0.19775	N	0.999955	D;D;D	0.57571	0.98;0.98;0.963	P;P;P	0.53649	0.731;0.731;0.572	T	0.52245	-0.8601	10	0.72032	D	0.01	.	12.3288	0.55026	0.0:0.9232:0.0:0.0768	.	759;718;600	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	N	759;599;559;559;718;740	ENSP00000420180:D759N;ENSP00000312031:D599N;ENSP00000418002:D559N;ENSP00000418403:D559N;ENSP00000395706:D718N;ENSP00000386866:D740N	ENSP00000312031:D599N	D	-	1	0	CCDC14	125116903	0.995000	0.38212	0.125000	0.21846	0.820000	0.46376	3.635000	0.54309	2.725000	0.93324	0.591000	0.81541	GAT	.	.		0.398	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
MUC13	56667	hgsc.bcm.edu	37	3	124646709	124646709	+	Missense_Mutation	SNP	G	G	A	rs75727765		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:124646709G>A	ENST00000311075.3	-	2	219	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	61	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTTGGGAAAGGTGTATTTGCT	0.458																																					p.P61S		Atlas-SNP	.											.	MUC13	57	.	0			c.C181T						.						211.0	210.0	211.0					3																	124646709		2203	4300	6503	SO:0001583	missense	56667	exon2			GGAAAGGTGTATT	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.181C>T	chr3.hg19:g.124646709G>A	ENSP00000312235:p.Pro61Ser	142.0	0.0		118.0	7.0	NM_033049	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	hg19		.	.	.	.	.	.	.	.	.	.	g	2.803	-0.248730	0.05867	.	.	ENSG00000173702	ENST00000311075	T	0.13089	2.62	2.04	-4.08	0.03963	.	1.726750	0.03707	N	0.249513	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.30646	0.118	T	0.25502	-1.0130	10	0.08837	T	0.75	-1.1529	6.1417	0.20263	0.0:0.1432:0.6122:0.2446	.	61	Q9H3R2	MUC13_HUMAN	S	61	ENSP00000312235:P61S	ENSP00000312235:P61S	P	-	1	0	MUC13	126129399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.112000	0.10791	-1.159000	0.02807	-0.283000	0.09986	CCT	.	.		0.458	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049	
FOXL2NB	401089	hgsc.bcm.edu	37	3	138668461	138668461	+	Missense_Mutation	SNP	A	A	T	rs141282655	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:138668461A>T	ENST00000383165.3	+	2	331	c.200A>T	c.(199-201)cAt>cTt	p.H67L	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		67								p.H67L(1)		large_intestine(1)|lung(3)	4						GCTGTCCGGCATTCGAAGGCT	0.572																																					p.H67L		Atlas-SNP	.											C3orf72,NS,carcinoma,0,2	C3orf72	13	.	1	Substitution - Missense(1)	lung(1)	c.A200T						.						68.0	70.0	70.0					3																	138668461		1945	4148	6093	SO:0001583	missense	401089	exon2			TCCGGCATTCGAA																												ENST00000383165.3:c.200A>T	chr3.hg19:g.138668461A>T	ENSP00000372651:p.His67Leu	42.0	0.0		21.0	2.0	NM_001040061	A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	hg19	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865522	0.17250	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.63	0.298	0.15766	.	.	.	.	.	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.18871	-1.0323	8	0.87932	D	0	.	4.518	0.11945	0.6589:0.3411:0.0:0.0	.	67	Q6ZUU3	CC072_HUMAN	L	67	.	ENSP00000372651:H67L	H	+	2	0	C3orf72	140151151	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-0.312000	0.08113	0.065000	0.16485	0.454000	0.30748	CAT	.	.		0.572	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
KCNAB1	7881	hgsc.bcm.edu	37	3	155838405	155838405	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:155838405T>C	ENST00000490337.1	+	1	69	c.5T>C	c.(4-6)cTg>cCg	p.L2P	KCNAB1_ENST00000389636.5_Missense_Mutation_p.L2P	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	2					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACGATGCTGGCAGCCCGG	0.517																																					p.L2P		Atlas-SNP	.											.	KCNAB1	176	.	0			c.T5C						.						112.0	128.0	123.0					3																	155838405		2203	4300	6503	SO:0001583	missense	7881	exon1			CGATGCTGGCAGC	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.5T>C	chr3.hg19:g.155838405T>C	ENSP00000419952:p.Leu2Pro	104.0	0.0		63.0	4.0	NM_172160	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	hg19	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007534	0.75046	.	.	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.15139	2.91;2.45	5.33	5.33	0.75918	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.56343	0.796;0.796	T	0.17776	-1.0358	9	0.87932	D	0	-17.1642	15.3008	0.73949	0.0:0.0:0.0:1.0	.	2;2	B7Z8E5;Q14722	.;KCAB1_HUMAN	P	2	ENSP00000419952:L2P;ENSP00000374287:L2P	ENSP00000374287:L2P	L	+	2	0	KCNAB1	157321099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.273000	0.65564	2.000000	0.58554	0.455000	0.32223	CTG	.	.		0.517	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
TNIK	23043	hgsc.bcm.edu	37	3	170784050	170784050	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:170784050T>C	ENST00000436636.2	-	32	4269	c.3925A>G	c.(3925-3927)Aca>Gca	p.T1309A	TNIK_ENST00000460047.1_Missense_Mutation_p.T1246A|TNIK_ENST00000488470.1_Missense_Mutation_p.T1254A|TNIK_ENST00000369326.5_Missense_Mutation_p.T1287A|TNIK_ENST00000470834.1_Missense_Mutation_p.T1272A|TNIK_ENST00000475336.1_Missense_Mutation_p.T1217A|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000538048.1_Missense_Mutation_p.T1261A|TNIK_ENST00000357327.5_Missense_Mutation_p.T1280A|TNIK_ENST00000341852.6_Missense_Mutation_p.T1225A|TNIK_ENST00000284483.8_Missense_Mutation_p.T1301A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1309	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAATGTCCTGTTTCCACTGAC	0.378																																					p.T1309A		Atlas-SNP	.											.	TNIK	313	.	0			c.A3925G						.						123.0	118.0	120.0					3																	170784050		1879	4122	6001	SO:0001583	missense	23043	exon32			GTCCTGTTTCCAC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3925A>G	chr3.hg19:g.170784050T>C	ENSP00000399511:p.Thr1309Ala	136.0	0.0		94.0	4.0	NM_015028	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	hg19	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846585	0.71603	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.87	5.87	0.94306	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.55103	1.725	0.80722	D	1	D;P;D;D;P;P;D;P	0.61697	0.974;0.76;0.99;0.974;0.871;0.76;0.99;0.951	D;B;D;D;P;B;D;P	0.72982	0.969;0.316;0.979;0.969;0.621;0.316;0.979;0.739	T	0.00068	-1.2139	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1217;1272;1246;1225;1301;1280;1254;1309	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	A	1309;1287;1261;1225;1301;1217;1280;1246;1254;1272	ENSP00000399511:T1309A;ENSP00000358332:T1287A;ENSP00000443278:T1261A;ENSP00000345352:T1225A;ENSP00000284483:T1301A;ENSP00000418156:T1217A;ENSP00000349880:T1280A;ENSP00000418916:T1246A;ENSP00000418378:T1254A;ENSP00000419990:T1272A	ENSP00000284483:T1301A	T	-	1	0	TNIK	172266744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	ACA	.	.		0.378	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
NLGN1	22871	hgsc.bcm.edu	37	3	173997373	173997373	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:173997373T>G	ENST00000457714.1	+	6	2011	c.1582T>G	c.(1582-1584)Ttc>Gtc	p.F528V	NLGN1_ENST00000545397.1_Missense_Mutation_p.F528V|NLGN1_ENST00000361589.4_Missense_Mutation_p.F528V|NLGN1_ENST00000401917.3_Missense_Mutation_p.F568V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	545					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCCTTGCAATTTCTCCAAAAA	0.423																																					p.F528V		Atlas-SNP	.											.	NLGN1	209	.	0			c.T1582G						.						55.0	53.0	54.0					3																	173997373		2203	4299	6502	SO:0001583	missense	22871	exon6			TGCAATTTCTCCA	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1582T>G	chr3.hg19:g.173997373T>G	ENSP00000392500:p.Phe528Val	323.0	0.0		201.0	93.0	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413882	0.83449	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.76063	-0.3096	10	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	568;528	D2X2H5;Q8N2Q7-2	.;.	V	528;528;528;568	ENSP00000392500:F528V;ENSP00000354541:F528V;ENSP00000441108:F528V;ENSP00000385750:F568V	ENSP00000354541:F528V	F	+	1	0	NLGN1	175480067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	.	.		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
TBL1XR1	79718	hgsc.bcm.edu	37	3	176765128	176765128	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:176765128T>C	ENST00000430069.1	-	9	1083	c.824A>G	c.(823-825)aAt>aGt	p.N275S	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.N275S|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	275					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCCTTTCTTATTCCATTTTAA	0.323																																					p.N275S		Atlas-SNP	.											.	TBL1XR1	87	.	0			c.A824G						.						31.0	30.0	30.0					3																	176765128		1817	4058	5875	SO:0001583	missense	79718	exon9			TTCTTATTCCATT	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.824A>G	chr3.hg19:g.176765128T>C	ENSP00000405574:p.Asn275Ser	226.0	0.0		106.0	5.0	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	hg19	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356838	0.82243	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.54279	0.58;0.58	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095731	0.64402	D	0.000001	T	0.36991	0.0987	N	0.02275	-0.615	0.80722	D	1	D	0.55605	0.972	P	0.55303	0.773	T	0.40961	-0.9535	10	0.02654	T	1	-4.4403	15.282	0.73794	0.0:0.0:0.0:1.0	.	275	Q9BZK7	TBL1R_HUMAN	S	275;275;137	ENSP00000405574:N275S;ENSP00000413251:N275S	ENSP00000405574:N275S	N	-	2	0	TBL1XR1	178247822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	AAT	.	.		0.323	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
KCNMB2	10242	hgsc.bcm.edu	37	3	178560484	178560484	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:178560484T>C	ENST00000432997.1	+	5	819	c.467T>C	c.(466-468)aTg>aCg	p.M156T	RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M156T|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M156T|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.M156T	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	166					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GAAGAATCCATGTCCCTGGTG	0.373																																					p.M156T		Atlas-SNP	.											.	KCNMB2	35	.	0			c.T467C						.						91.0	91.0	91.0					3																	178560484		2203	4300	6503	SO:0001583	missense	10242	exon6			AATCCATGTCCCT	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.467T>C	chr3.hg19:g.178560484T>C	ENSP00000407592:p.Met156Thr	138.0	0.0		79.0	4.0	NM_005832	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	hg19	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	T	4.923	0.171559	0.09391	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	6.06	6.06	0.98353	.	0.186148	0.64402	D	0.000013	T	0.05364	0.0142	N	0.08118	0	0.41506	D	0.988319	B	0.06786	0.001	B	0.15484	0.013	T	0.45454	-0.9260	10	0.13108	T	0.6	-24.2237	16.6093	0.84858	0.0:0.0:0.0:1.0	.	156	Q9Y691	KCMB2_HUMAN	T	156;156;156;156;137	ENSP00000408252:M156T;ENSP00000397483:M156T;ENSP00000407592:M156T;ENSP00000351068:M156T	ENSP00000351068:M156T	M	+	2	0	KCNMB2	180043178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.638000	0.46562	2.324000	0.78689	0.533000	0.62120	ATG	.	.		0.373	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361	
ABCC5	10057	hgsc.bcm.edu	37	3	183706403	183706403	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:183706403A>G	ENST00000334444.6	-	4	640	c.400T>C	c.(400-402)Tgg>Cgg	p.W134R	ABCC5_ENST00000382494.2_Missense_Mutation_p.W134R|ABCC5_ENST00000427120.2_Missense_Mutation_p.W134R|ABCC5_ENST00000392579.2_Missense_Mutation_p.W134R|ABCC5_ENST00000265586.6_Missense_Mutation_p.W134R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	134					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GACAGAGACCACACGTCTTCC	0.572																																					p.W134R		Atlas-SNP	.											.	ABCC5	142	.	0			c.T400C						.						94.0	88.0	90.0					3																	183706403		2203	4300	6503	SO:0001583	missense	10057	exon4			GAGACCACACGTC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.400T>C	chr3.hg19:g.183706403A>G	ENSP00000333926:p.Trp134Arg	143.0	0.0		79.0	4.0	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	hg19	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434797	0.83885	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494;ENST00000437341	D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.88512	2.96	0.80722	D	1	D;D;D;D;B	0.89917	1.0;1.0;0.992;1.0;0.005	D;D;P;D;B	0.97110	0.999;0.999;0.887;1.0;0.014	D	0.98433	1.0583	10	0.87932	D	0	-10.0346	16.4943	0.84223	1.0:0.0:0.0:0.0	.	134;134;134;134;134	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	R	134;70;134;134;134;134;134	ENSP00000333926:W134R;ENSP00000265586:W134R;ENSP00000404809:W134R;ENSP00000376358:W134R;ENSP00000371934:W134R;ENSP00000399726:W134R	ENSP00000265586:W134R	W	-	1	0	ABCC5	185189097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.149000	0.77396	2.291000	0.77112	0.533000	0.62120	TGG	.	.		0.572	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
LIPH	200879	hgsc.bcm.edu	37	3	185226629	185226629	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:185226629T>C	ENST00000296252.4	-	10	1446	c.1305A>G	c.(1303-1305)gaA>gaG	p.E435E	LIPH_ENST00000424591.2_Silent_p.E401E	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	435					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTCAACGTTTTCCATCAGGA	0.378																																					p.E435E		Atlas-SNP	.											.	LIPH	56	.	0			c.A1305G						.						76.0	72.0	73.0					3																	185226629		2203	4300	6503	SO:0001819	synonymous_variant	200879	exon10			AACGTTTTCCATC	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1305A>G	chr3.hg19:g.185226629T>C		133.0	0.0		89.0	4.0	NM_139248	A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	hg19	CCDS3272.1																																																																																			.	.		0.378	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
MASP1	5648	hgsc.bcm.edu	37	3	186938875	186938875	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:186938875G>A	ENST00000337774.5	-	15	2246	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	619	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTTCAGCGGGGCATAAGCCT	0.542																																					p.A619A		Atlas-SNP	.											.	MASP1	240	.	0			c.C1857T						.						147.0	112.0	124.0					3																	186938875		2203	4300	6503	SO:0001819	synonymous_variant	5648	exon15			CAGCGGGGCATAA	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1857C>T	chr3.hg19:g.186938875G>A		197.0	0.0		140.0	62.0	NM_001879	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	hg19	CCDS33907.1																																																																																			.	.		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
PAK2	5062	hgsc.bcm.edu	37	3	196547362	196547362	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:196547362A>G	ENST00000327134.3	+	13	1596	c.1274A>G	c.(1273-1275)gAc>gGc	p.D425G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTAAAGTCGACATATGGTCT	0.498																																					p.D425G		Atlas-SNP	.											.	PAK2	113	.	0			c.A1274G						.						151.0	125.0	134.0					3																	196547362		2203	4300	6503	SO:0001583	missense	5062	exon13			AAGTCGACATATG	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1274A>G	chr3.hg19:g.196547362A>G	ENSP00000314067:p.Asp425Gly	198.0	0.0		94.0	4.0	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	hg19	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.499677|4.499677	0.85176|0.85176	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.52295|.	0.67|.	4.69|4.69	4.69|4.69	0.59074|0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91226|0.91226	0.7235|0.7235	H|H	0.99712|0.99712	4.72|4.72	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.94889|0.94889	0.8046|0.8046	10|5	0.87932|.	D|.	0|.	.|.	14.6248|14.6248	0.68614|0.68614	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	425|.	Q13177|.	PAK2_HUMAN|.	G|A	425|168	ENSP00000314067:D425G|.	ENSP00000314067:D425G|.	D|T	+|+	2|1	0|0	PAK2|PAK2	198031759|198031759	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	8.709000|8.709000	0.91379|0.91379	2.097000|2.097000	0.63578|0.63578	0.533000|0.533000	0.62120|0.62120	GAC|ACA	.	.		0.498	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	
DLG1	1739	hgsc.bcm.edu	37	3	197023321	197023321	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr3:197023321T>C	ENST00000419354.1	-	3	333	c.47A>G	c.(46-48)gAg>gGg	p.E16G	DLG1-AS1_ENST00000430666.1_RNA|DLG1_ENST00000448528.2_Missense_Mutation_p.E16G|MIR4797_ENST00000577559.1_RNA|DLG1_ENST00000450955.1_Missense_Mutation_p.E16G|DLG1_ENST00000314062.3_Missense_Mutation_p.E16G|DLG1_ENST00000346964.2_Missense_Mutation_p.E16G|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E16G|DLG1_ENST00000422288.1_Missense_Mutation_p.E16G|DLG1_ENST00000357674.4_Missense_Mutation_p.E16G|DLG1-AS1_ENST00000414529.1_RNA			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	16	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACGATATTCCTCCAAAAGGTG	0.368																																					p.E16G		Atlas-SNP	.											.	DLG1	120	.	0			c.A47G						.						145.0	145.0	145.0					3																	197023321		2203	4300	6503	SO:0001583	missense	1739	exon3			TATTCCTCCAAAA	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.47A>G	chr3.hg19:g.197023321T>C	ENSP00000407531:p.Glu16Gly	154.0	0.0		82.0	4.0	NM_001204386	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	hg19	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979708	0.74360	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000456699;ENST00000392380;ENST00000419553;ENST00000436682;ENST00000412364;ENST00000434148	T;T;T;T;T;T;T;T;T;T;T	0.55413	2.12;2.13;2.14;2.14;2.14;2.14;2.16;2.13;0.52;0.52;0.52	5.09	5.09	0.68999	L27 (2);L27-1 (1);	0.148295	0.42172	D	0.000745	T	0.57257	0.2041	M	0.76574	2.34	0.58432	D	0.999999	B;B;B;P	0.42692	0.449;0.081;0.099;0.787	B;B;B;B	0.42959	0.205;0.094;0.152;0.403	T	0.65154	-0.6237	10	0.87932	D	0	.	13.4581	0.61210	0.0:0.0:0.0:1.0	.	16;16;16;16	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	G	16	ENSP00000345731:E16G;ENSP00000350303:E16G;ENSP00000321087:E16G;ENSP00000407531:E16G;ENSP00000413238:E16G;ENSP00000391732:E16G;ENSP00000376187:E16G;ENSP00000411278:E16G;ENSP00000396474:E16G;ENSP00000376185:E16G;ENSP00000414189:E16G	ENSP00000321087:E16G	E	-	2	0	DLG1	198507718	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.818000	0.75257	2.213000	0.71641	0.528000	0.53228	GAG	.	.		0.368	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	
HTT	3064	hgsc.bcm.edu	37	4	3210595	3210595	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:3210595A>G	ENST00000355072.5	+	46	6393	c.6248A>G	c.(6247-6249)gAc>gGc	p.D2083G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2083					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACCCGCTGGACGGGGATGGG	0.567																																					p.D2083G		Atlas-SNP	.											.	HTT	221	.	0			c.A6248G						.						63.0	63.0	63.0					4																	3210595		2025	4191	6216	SO:0001583	missense	3064	exon46			CGCTGGACGGGGA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6248A>G	chr4.hg19:g.3210595A>G	ENSP00000347184:p.Asp2083Gly	114.0	0.0		73.0	4.0	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729267	0.69074	.	.	ENSG00000197386	ENST00000355072	T	0.05717	3.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.02917	-1.1094	10	0.19590	T	0.45	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	2083	P42858	HD_HUMAN	G	2083	ENSP00000347184:D2083G	ENSP00000347184:D2083G	D	+	2	0	HTT	3180393	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	8.570000	0.90748	2.326000	0.78906	0.533000	0.62120	GAC	.	.		0.567	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
TBC1D14	57533	hgsc.bcm.edu	37	4	7006574	7006574	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:7006574T>C	ENST00000409757.4	+	8	1398	c.1274T>C	c.(1273-1275)cTc>cCc	p.L425P	TBC1D14_ENST00000451522.2_Missense_Mutation_p.L145P|TBC1D14_ENST00000410031.1_Missense_Mutation_p.L197P|TBC1D14_ENST00000448507.1_Missense_Mutation_p.L425P|TBC1D14_ENST00000446947.2_Missense_Mutation_p.L38P	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	425	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTTCCAGAGCTCTTTGACATC	0.463																																					p.L425P		Atlas-SNP	.											.	TBC1D14	110	.	0			c.T1274C						.						105.0	104.0	104.0					4																	7006574		2203	4300	6503	SO:0001583	missense	57533	exon8			CAGAGCTCTTTGA	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1274T>C	chr4.hg19:g.7006574T>C	ENSP00000386921:p.Leu425Pro	79.0	0.0		39.0	4.0	NM_001113361	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	hg19	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563694	0.86335	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65;3.65	5.27	5.27	0.74061	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.992	T	0.33929	-0.9849	10	0.72032	D	0.01	-25.3524	14.5294	0.67915	0.0:0.0:0.0:1.0	.	38;145;425	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	P	425;425;197;145;44;38	ENSP00000404041:L425P;ENSP00000386921:L425P;ENSP00000386343:L197P;ENSP00000388886:L145P;ENSP00000389082:L44P;ENSP00000405875:L38P	ENSP00000386921:L425P	L	+	2	0	TBC1D14	7057475	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.393000	0.79851	2.198000	0.70561	0.533000	0.62120	CTC	.	.		0.463	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	
KLB	152831	hgsc.bcm.edu	37	4	39447995	39447995	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:39447995T>C	ENST00000257408.4	+	4	1746	c.1649T>C	c.(1648-1650)cTg>cCg	p.L550P		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	550	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						GATCCTCATCTGTACGTGTGG	0.522																																					p.L550P		Atlas-SNP	.											.	KLB	95	.	0			c.T1649C						.						79.0	73.0	75.0					4																	39447995		2203	4300	6503	SO:0001583	missense	152831	exon4			CTCATCTGTACGT	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.1649T>C	chr4.hg19:g.39447995T>C	ENSP00000257408:p.Leu550Pro	29.0	0.0		43.0	4.0	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920731	0.73213	.	.	ENSG00000134962	ENST00000257408	T	0.29917	1.55	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.072978	0.56097	D	0.000033	T	0.42359	0.1199	N	0.21142	0.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.975	T	0.40136	-0.9579	10	0.62326	D	0.03	-14.1461	16.0874	0.81068	0.0:0.0:0.0:1.0	.	541;550	B7ZL50;Q86Z14	.;KLOTB_HUMAN	P	550	ENSP00000257408:L550P	ENSP00000257408:L550P	L	+	2	0	KLB	39124390	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.855000	0.86950	2.203000	0.70933	0.397000	0.26171	CTG	.	.		0.522	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
RHOH	399	hgsc.bcm.edu	37	4	40245536	40245536	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:40245536G>A	ENST00000381799.5	+	3	1254	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	RHOH_ENST00000505618.1_Missense_Mutation_p.R177Q	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	177					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.R177Q(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCCAGGAGACGAAACAGAAGG	0.527																																					p.R177Q		Atlas-SNP	.											RHOH,colon,carcinoma,0,1	RHOH	32	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A						.						32.0	33.0	33.0					4																	40245536		2203	4300	6503	SO:0001583	missense	399	exon3			GGAGACGAAACAG	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.530G>A	chr4.hg19:g.40245536G>A	ENSP00000371219:p.Arg177Gln	216.0	0.0		105.0	10.0	NM_004310		Missense_Mutation	SNP	ENST00000381799.5	hg19	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	6.416	0.444863	0.12164	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.63580	-0.05;-0.05	6.03	4.3	0.51218	.	0.184661	0.35936	U	0.002886	T	0.41994	0.1183	N	0.12887	0.27	0.37252	D	0.906626	B	0.13145	0.007	B	0.01281	0.0	T	0.42344	-0.9457	10	0.41790	T	0.15	.	10.4219	0.44354	0.2106:0.0:0.7894:0.0	.	177	Q15669	RHOH_HUMAN	Q	177	ENSP00000425010:R177Q;ENSP00000371219:R177Q	ENSP00000371219:R177Q	R	+	2	0	RHOH	39921931	1.000000	0.71417	0.988000	0.46212	0.098000	0.18820	2.358000	0.44134	1.558000	0.49541	0.655000	0.94253	CGA	.	.		0.527	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310	
REST	5978	hgsc.bcm.edu	37	4	57798184	57798184	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:57798184A>G	ENST00000309042.7	+	4	3474	c.3160A>G	c.(3160-3162)Aaa>Gaa	p.K1054E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1054	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTGGCAGTCAAAGCGGCTAA	0.433																																					p.K1054E		Atlas-SNP	.											.	REST	104	.	0			c.A3160G						.						79.0	76.0	77.0					4																	57798184		2203	4300	6503	SO:0001583	missense	5978	exon4			GCAGTCAAAGCGG	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3160A>G	chr4.hg19:g.57798184A>G	ENSP00000311816:p.Lys1054Glu	189.0	0.0		101.0	5.0	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.473732	0.26423	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.33216	1.42	5.82	4.62	0.57501	.	0.000000	0.49305	D	0.000144	T	0.25158	0.0611	L	0.60455	1.87	0.09310	N	1	P;B	0.42518	0.782;0.251	B;B	0.37650	0.255;0.038	T	0.42749	-0.9433	10	0.72032	D	0.01	-27.0083	3.8101	0.08793	0.6679:0.1326:0.0718:0.1278	.	1031;1054	F8WAN5;Q13127	.;REST_HUMAN	E	1054;1031	ENSP00000311816:K1054E	ENSP00000311816:K1054E	K	+	1	0	REST	57492941	0.149000	0.22717	0.277000	0.24703	0.024000	0.10985	0.576000	0.23744	2.225000	0.72522	0.459000	0.35465	AAA	.	.		0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
RUFY3	22902	hgsc.bcm.edu	37	4	71668679	71668679	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:71668679A>C	ENST00000381006.3	+	16	2208	c.1629A>C	c.(1627-1629)caA>caC	p.Q543H	RUFY3_ENST00000512331.1_3'UTR|RUFY3_ENST00000502653.1_Missense_Mutation_p.Q490H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	0					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GTAGGCTGCAACCCCACCCTA	0.353																																					p.Q543H		Atlas-SNP	.											.	RUFY3	61	.	0			c.A1629C						.						95.0	85.0	88.0					4																	71668679		2203	4300	6503	SO:0001583	missense	22902	exon16			GCTGCAACCCCAC	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.1629A>C	chr4.hg19:g.71668679A>C	ENSP00000370394:p.Gln543His	113.0	0.0		59.0	4.0	NM_001037442	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000381006.3	hg19	CCDS34001.1	.	.	.	.	.	.	.	.	.	.	A	9.058	0.993890	0.19043	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.76316	-1.01;-1.01	4.72	3.87	0.44632	.	1.025600	0.07786	N	0.954219	T	0.72503	0.3468	.	.	.	0.80722	D	1	B	0.22541	0.071	B	0.27608	0.081	T	0.65121	-0.6245	9	0.62326	D	0.03	4.9739	7.9734	0.30140	0.1139:0.0:0.8861:0.0	.	543	Q7L099-3	.	H	543;490	ENSP00000370394:Q543H;ENSP00000425400:Q490H	ENSP00000370394:Q543H	Q	+	3	2	RUFY3	71887543	0.955000	0.32602	0.866000	0.34008	0.175000	0.22909	2.704000	0.47118	1.181000	0.42912	-0.242000	0.12053	CAA	.	.		0.353	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252162.1	NM_014961	
ANTXR2	118429	hgsc.bcm.edu	37	4	80905088	80905088	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:80905088T>C	ENST00000307333.7	-	14	1125	c.1123A>G	c.(1123-1125)Act>Gct	p.T375A	ANTXR2_ENST00000403729.2_Missense_Mutation_p.T375A|ANTXR2_ENST00000346652.6_Missense_Mutation_p.T272A|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T298A	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	375					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T375P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GCATCCACAGTTGGCCACTTT	0.348									Juvenile Hyaline Fibromatosis																												p.T375A		Atlas-SNP	.											ANTXR2_ENST00000403729,colon,carcinoma,0,1	ANTXR2	97	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1123G						.						79.0	74.0	75.0					4																	80905088		1808	4072	5880	SO:0001583	missense	118429	exon14	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	CCACAGTTGGCCA	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1123A>G	chr4.hg19:g.80905088T>C	ENSP00000306185:p.Thr375Ala	114.0	0.0		50.0	2.0	NM_001145794	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	hg19	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909381	0.72868	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.52057	2.23;0.68;2.19;2.22	5.8	5.8	0.92144	Anthrax toxin receptor, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.80764	0.994;0.916;0.961	T	0.75411	-0.3327	10	0.87932	D	0	-24.3475	16.1464	0.81575	0.0:0.0:0.0:1.0	.	272;375;375	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	A	375;298;272;375	ENSP00000385575:T375A;ENSP00000384028:T298A;ENSP00000314883:T272A;ENSP00000306185:T375A	ENSP00000306185:T375A	T	-	1	0	ANTXR2	81124112	1.000000	0.71417	0.966000	0.40874	0.553000	0.35397	7.648000	0.83479	2.220000	0.72140	0.383000	0.25322	ACT	.	.		0.348	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
COPS4	51138	hgsc.bcm.edu	37	4	83996548	83996548	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:83996548A>G	ENST00000264389.2	+	10	1321	c.1186A>G	c.(1186-1188)Aca>Gca	p.T396A	COPS4_ENST00000511653.1_3'UTR|COPS4_ENST00000503682.1_Missense_Mutation_p.T428A|COPS4_ENST00000509093.1_3'UTR	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	396					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ACCAGAATGGACAGCACAAGC	0.448																																					p.T396A		Atlas-SNP	.											.	COPS4	31	.	0			c.A1186G						.						111.0	113.0	112.0					4																	83996548		2203	4300	6503	SO:0001583	missense	51138	exon10			GAATGGACAGCAC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1186A>G	chr4.hg19:g.83996548A>G	ENSP00000264389:p.Thr396Ala	149.0	0.0		92.0	4.0	NM_016129	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	hg19	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085908	0.20390	.	.	ENSG00000138663	ENST00000264389;ENST00000503682	T;T	0.41065	1.01;1.07	6.08	6.08	0.98989	.	0.056317	0.64402	D	0.000001	T	0.15349	0.0370	N	0.00729	-1.24	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29336	-1.0015	10	0.07990	T	0.79	-19.3174	16.6512	0.85203	1.0:0.0:0.0:0.0	.	428;396	D6RFN0;Q9BT78	.;CSN4_HUMAN	A	396;428	ENSP00000264389:T396A;ENSP00000424791:T428A	ENSP00000264389:T396A	T	+	1	0	COPS4	84215572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.872000	0.75536	2.333000	0.79357	0.482000	0.46254	ACA	.	.		0.448	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1		
TBCK	93627	hgsc.bcm.edu	37	4	107154200	107154200	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:107154200A>G	ENST00000273980.5	-	18	1981	c.1534T>C	c.(1534-1536)Tgt>Cgt	p.C512R	TBCK_ENST00000432496.2_Missense_Mutation_p.C512R|TBCK_ENST00000394708.2_Missense_Mutation_p.C512R|TBCK_ENST00000394706.3_Missense_Mutation_p.C473R|TBCK_ENST00000361687.4_Missense_Mutation_p.C449R					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACTGATGACAGCGAGGAATA	0.353																																					p.C512R		Atlas-SNP	.											.	TBCK	89	.	0			c.T1534C						.						119.0	114.0	116.0					4																	107154200		2203	4300	6503	SO:0001583	missense	93627	exon17			GATGACAGCGAGG		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1534T>C	chr4.hg19:g.107154200A>G	ENSP00000273980:p.Cys512Arg	109.0	0.0		76.0	4.0	NM_001163436		Missense_Mutation	SNP	ENST00000273980.5	hg19	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499858	0.85176	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000503516	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;3.67	5.55	5.55	0.83447	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.54616	-0.8267	10	0.87932	D	0	.	15.7093	0.77612	1.0:0.0:0.0:0.0	.	512;473;449	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	R	512;512;449;473;512;42	ENSP00000273980:C512R;ENSP00000405847:C512R;ENSP00000355338:C449R;ENSP00000378196:C473R;ENSP00000378198:C512R;ENSP00000423834:C42R	ENSP00000273980:C512R	C	-	1	0	TBCK	107373649	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	9.141000	0.94612	2.111000	0.64477	0.533000	0.62120	TGT	.	.		0.353	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115	
PRMT9	90826	hgsc.bcm.edu	37	4	148559822	148559822	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:148559822A>G	ENST00000322396.6	-	12	2641	c.2399T>C	c.(2398-2400)tTg>tCg	p.L800S	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.L687S	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		800	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TGAAGTATCCAACCTAATCTC	0.383																																					p.L800S		Atlas-SNP	.											.	PRMT10	68	.	0			c.T2399C						.						99.0	89.0	93.0					4																	148559822		2203	4300	6503	SO:0001583	missense	90826	exon12			GTATCCAACCTAA																												ENST00000322396.6:c.2399T>C	chr4.hg19:g.148559822A>G	ENSP00000314396:p.Leu800Ser	186.0	0.0		88.0	4.0	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	hg19	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534579	0.85812	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29655	1.56;1.56	5.67	5.67	0.87782	.	0.143577	0.47852	D	0.000216	T	0.52306	0.1726	M	0.64997	1.995	0.49483	D	0.999791	D	0.69078	0.997	D	0.65773	0.938	T	0.55108	-0.8192	10	0.87932	D	0	-21.4202	15.9054	0.79423	1.0:0.0:0.0:0.0	.	800	Q6P2P2	ANM10_HUMAN	S	800;687	ENSP00000314396:L800S;ENSP00000439508:L687S	ENSP00000314396:L800S	L	-	2	0	PRMT10	148779272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.639000	0.91023	2.157000	0.67596	0.533000	0.62120	TTG	.	.		0.383	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153268212	153268212	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:153268212A>G	ENST00000281708.4	-	4	1825	c.596T>C	c.(595-597)cTt>cCt	p.L199P	FBXW7_ENST00000603841.1_Missense_Mutation_p.L199P|FBXW7_ENST00000263981.5_Missense_Mutation_p.L119P|FBXW7_ENST00000296555.5_Missense_Mutation_p.L81P|FBXW7_ENST00000603548.1_Missense_Mutation_p.L199P|FBXW7_ENST00000393956.3_Missense_Mutation_p.L23P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	199					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)				ACATGGTACAAGCCCAGTGGT	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.L199P		Atlas-SNP	.		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	FBXW7	2157	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.T596C						.						115.0	103.0	107.0					4																	153268212		2203	4300	6503	SO:0001583	missense	55294	exon4			GGTACAAGCCCAG	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.596T>C	chr4.hg19:g.153268212A>G	ENSP00000281708:p.Leu199Pro	179.0	0.0		95.0	4.0	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	hg19	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625943	0.46840	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61040	0.56;0.24;0.14;0.52	5.83	4.66	0.58398	.	0.322034	0.32041	N	0.006678	T	0.45577	0.1349	N	0.14661	0.345	0.80722	D	1	B;B;P;P	0.51537	0.0;0.001;0.856;0.946	B;B;P;P	0.46825	0.0;0.001;0.528;0.528	T	0.48559	-0.9025	10	0.56958	D	0.05	-12.3942	11.5742	0.50852	0.9306:0.0:0.0694:0.0	.	23;199;81;119	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	199;81;119;23	ENSP00000281708:L199P;ENSP00000296555:L81P;ENSP00000263981:L119P;ENSP00000377528:L23P	ENSP00000263981:L119P	L	-	2	0	FBXW7	153487662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.044000	0.40200	0.460000	0.39030	CTT	.	.		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
TLR2	7097	hgsc.bcm.edu	37	4	154625449	154625449	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:154625449G>A	ENST00000260010.6	+	1	2798	c.1390G>A	c.(1390-1392)Gtt>Att	p.V464I		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	464					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AATTTTAGATGTTAGCAACAA	0.368																																					p.V464I		Atlas-SNP	.											.	TLR2	84	.	0			c.G1390A						.						96.0	98.0	97.0					4																	154625449		2203	4300	6503	SO:0001583	missense	7097	exon3			TTAGATGTTAGCA	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1390G>A	chr4.hg19:g.154625449G>A	ENSP00000260010:p.Val464Ile	144.0	0.0		101.0	44.0	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	hg19	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	0.969	-0.700825	0.03279	.	.	ENSG00000137462	ENST00000260010	T	0.00816	5.66	5.42	-5.31	0.02730	.	0.347798	0.26927	N	0.021789	T	0.00784	0.0026	N	0.17838	0.53	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40327	-0.9569	10	0.30078	T	0.28	.	16.5669	0.84601	0.1076:0.0701:0.8223:0.0	.	464	O60603	TLR2_HUMAN	I	464	ENSP00000260010:V464I	ENSP00000260010:V464I	V	+	1	0	TLR2	154844899	0.952000	0.32445	0.004000	0.12327	0.074000	0.17049	0.152000	0.16302	-1.581000	0.01642	-2.010000	0.00438	GTT	.	.		0.368	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
MAP9	79884	hgsc.bcm.edu	37	4	156294381	156294381	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:156294381A>G	ENST00000311277.4	-	4	651	c.388T>C	c.(388-390)Tct>Cct	p.S130P	MAP9_ENST00000515654.1_Missense_Mutation_p.S130P|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.S58P	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	130					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGAGATTCAGAGAAAGATTTT	0.338																																					p.S130P		Atlas-SNP	.											.	MAP9	79	.	0			c.T388C						.						87.0	88.0	87.0					4																	156294381		2203	4300	6503	SO:0001583	missense	79884	exon4			ATTCAGAGAAAGA	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.388T>C	chr4.hg19:g.156294381A>G	ENSP00000310593:p.Ser130Pro	108.0	0.0		78.0	4.0	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	hg19	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271255	0.23221	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.34667	2.1;2.08;1.35;1.36	5.84	-1.31	0.09230	.	0.727289	0.12968	N	0.424371	T	0.17619	0.0423	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.27559	0.002;0.181;0.004;0.004	B;B;B;B	0.26864	0.004;0.074;0.009;0.009	T	0.20505	-1.0273	10	0.23891	T	0.37	-0.8377	4.5813	0.12260	0.3867:0.0:0.4409:0.1724	.	130;58;130;130	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	P	130;130;130;130;58	ENSP00000310593:S130P;ENSP00000427402:S130P;ENSP00000394048:S130P;ENSP00000368550:S58P	ENSP00000310593:S130P	S	-	1	0	MAP9	156513831	0.000000	0.05858	0.005000	0.12908	0.069000	0.16628	0.059000	0.14322	0.152000	0.19188	0.455000	0.32223	TCT	.	.		0.338	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
ING2	3622	hgsc.bcm.edu	37	4	184426478	184426478	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:184426478A>G	ENST00000302327.3	+	1	332	c.130A>G	c.(130-132)Agg>Ggg	p.R44G	RP11-367N14.2_ENST00000457303.3_RNA|ING2_ENST00000434682.2_5'Flank	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	44					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGACATGCAGAGGAACGTGTC	0.682																																					p.R44G		Atlas-SNP	.											.	ING2	20	.	0			c.A130G						.						23.0	18.0	20.0					4																	184426478		2148	4238	6386	SO:0001583	missense	3622	exon1			ATGCAGAGGAACG	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.130A>G	chr4.hg19:g.184426478A>G	ENSP00000307183:p.Arg44Gly	307.0	0.0		162.0	7.0	NM_001564	B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	hg19	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406629	0.62399	.	.	ENSG00000168556	ENST00000302327	.	.	.	4.29	3.11	0.35812	Inhibitor of growth protein, N-terminal (1);	0.054948	0.64402	D	0.000001	T	0.80253	0.4589	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83690	0.0176	9	0.87932	D	0	-18.3281	10.7999	0.46483	0.831:0.169:0.0:0.0	.	44	Q9H160	ING2_HUMAN	G	44	.	ENSP00000307183:R44G	R	+	1	2	ING2	184663472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.604000	0.46274	1.798000	0.52647	0.459000	0.35465	AGG	.	.		0.682	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564	
SNX25	83891	hgsc.bcm.edu	37	4	186244833	186244833	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:186244833T>C	ENST00000504273.1	+	9	1430	c.1136T>C	c.(1135-1137)gTt>gCt	p.V379A	SNX25_ENST00000264694.8_Missense_Mutation_p.V379A|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	379	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGGAAGATGTTTATGAGACC	0.338																																					p.V379A		Atlas-SNP	.											.	SNX25	100	.	0			c.T1136C						.						74.0	75.0	75.0					4																	186244833		2203	4298	6501	SO:0001583	missense	83891	exon9			AAGATGTTTATGA	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1136T>C	chr4.hg19:g.186244833T>C	ENSP00000426255:p.Val379Ala	200.0	0.0		98.0	4.0	NM_031953	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	hg19	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.366677	0.82463	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.44881	0.91;0.91	5.81	5.81	0.92471	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.062970	0.64402	D	0.000006	T	0.47619	0.1455	M	0.68952	2.095	0.53005	D	0.999965	B;P	0.40000	0.39;0.698	B;B	0.41174	0.154;0.349	T	0.49437	-0.8940	10	0.49607	T	0.09	-14.9727	16.1616	0.81721	0.0:0.0:0.0:1.0	.	150;379	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	A	379	ENSP00000426255:V379A;ENSP00000264694:V379A	ENSP00000264694:V379A	V	+	2	0	SNX25	186481827	1.000000	0.71417	0.982000	0.44146	0.919000	0.55068	7.403000	0.79983	2.221000	0.72209	0.454000	0.30748	GTT	.	.		0.338	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
FAT1	2195	hgsc.bcm.edu	37	4	187628064	187628064	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr4:187628064T>C	ENST00000441802.2	-	2	3127	c.2918A>G	c.(2917-2919)aAc>aGc	p.N973S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	973	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACATCGAAGTTTCCTTCTCC	0.483										HNSCC(5;0.00058)																											p.N973S	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.A2918G						.						165.0	160.0	161.0					4																	187628064		1934	4138	6072	SO:0001583	missense	2195	exon2			TCGAAGTTTCCTT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2918A>G	chr4.hg19:g.187628064T>C	ENSP00000406229:p.Asn973Ser	204.0	0.0		97.0	4.0	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.560681	0.00136	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51574	0.7	4.11	1.7	0.24286	Cadherin (4);Cadherin-like (1);	0.979756	0.08379	N	0.954783	T	0.21801	0.0525	N	0.03084	-0.415	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.25467	-1.0131	10	0.20046	T	0.44	.	5.122	0.14865	0.0:0.2579:0.1605:0.5816	.	973	Q14517	FAT1_HUMAN	S	973	ENSP00000406229:N973S	ENSP00000260147:N973S	N	-	2	0	FAT1	187865058	0.899000	0.30636	0.446000	0.26920	0.009000	0.06853	1.378000	0.34328	0.393000	0.25203	-0.415000	0.06103	AAC	.	.		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
PAPD7	11044	hgsc.bcm.edu	37	5	6743905	6743905	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:6743905T>C	ENST00000230859.6	+	6	576	c.447T>C	c.(445-447)ggT>ggC	p.G149G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	379					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTTTTACAGGTGGAATTAGCT	0.358																																					p.G149G	NSCLC(7;212 333 5667 23379 46547)	Atlas-SNP	.											.	PAPD7	69	.	0			c.T447C						.						155.0	160.0	158.0					5																	6743905		2203	4300	6503	SO:0001819	synonymous_variant	11044	exon6			TACAGGTGGAATT	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.447T>C	chr5.hg19:g.6743905T>C		147.0	0.0		87.0	4.0	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	hg19	CCDS3871.1																																																																																			.	.		0.358	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
EGFLAM	133584	hgsc.bcm.edu	37	5	38337733	38337733	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:38337733T>C	ENST00000354891.3	+	2	553		c.e2+2		EGFLAM_ENST00000322350.5_Splice_Site	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains						extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGTACACTGTGAGTACACGG	0.488																																					.	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											.	EGFLAM	302	.	0			c.207+2T>C						.						85.0	62.0	69.0					5																	38337733		2203	4299	6502	SO:0001630	splice_region_variant	133584	exon2			ACACTGTGAGTAC	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.207+2T>C	chr5.hg19:g.38337733T>C		128.0	0.0		57.0	26.0	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Splice_Site	SNP	ENST00000354891.3	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174520	0.57692	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9606	0.71153	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGFLAM	38373490	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	4.791000	0.62460	2.171000	0.68590	0.533000	0.62120	.	.	.		0.488	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	Intron
RPL37	6167	hgsc.bcm.edu	37	5	40834674	40834674	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:40834674T>C	ENST00000274242.5	-	2	187	c.38A>G	c.(37-39)aAt>aGt	p.N13S	RPL37_ENST00000508493.1_Missense_Mutation_p.N13S|RPL37_ENST00000509877.1_Missense_Mutation_p.N13S|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	13					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)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				GTGCGTCTTATTGCGACGCTT	0.507																																					p.N13S	Colon(188;1411 2035 4978 19588 31462)	Atlas-SNP	.											.	RPL37	7	.	0			c.A38G						.						64.0	61.0	62.0					5																	40834674		2203	4300	6503	SO:0001583	missense	6167	exon2			GTCTTATTGCGAC	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.38A>G	chr5.hg19:g.40834674T>C	ENSP00000274242:p.Asn13Ser	160.0	0.0		76.0	4.0	NM_000997	B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	hg19	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983776	0.74474	.	.	ENSG00000145592	ENST00000274242;ENST00000509877;ENST00000508493	T	0.44881	0.91	5.62	5.62	0.85841	Ribosomal protein L37e, conserved site (1);Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.090386	0.85682	D	0.000000	T	0.40040	0.1101	.	.	.	0.80722	D	1	B	0.20671	0.047	B	0.24701	0.055	T	0.20739	-1.0266	9	0.51188	T	0.08	.	15.8181	0.78621	0.0:0.0:0.0:1.0	.	13	P61927	RL37_HUMAN	S	13	ENSP00000274242:N13S	ENSP00000274242:N13S	N	-	2	0	RPL37	40870431	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	8.012000	0.88631	2.142000	0.66516	0.460000	0.39030	AAT	.	.		0.507	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997	
ZNF131	7690	hgsc.bcm.edu	37	5	43161821	43161821	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:43161821A>G	ENST00000399534.1	+	5	886	c.842A>G	c.(841-843)aAa>aGa	p.K281R	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.K281R|ZNF131_ENST00000509634.1_Missense_Mutation_p.K247R|ZNF131_ENST00000505606.2_Missense_Mutation_p.K247R|ZNF131_ENST00000306938.4_Missense_Mutation_p.K247R			P52739	ZN131_HUMAN	zinc finger protein 131	281					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAGCACATGAAATCACACTCC	0.378																																					p.K247R		Atlas-SNP	.											.	ZNF131	51	.	0			c.A740G						.						71.0	63.0	65.0					5																	43161821		1873	4116	5989	SO:0001583	missense	7690	exon6			ACATGAAATCACA	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.842A>G	chr5.hg19:g.43161821A>G	ENSP00000382450:p.Lys281Arg	183.0	0.0		100.0	4.0	NM_003432	B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.59	2.878138	0.51801	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75050	-0.85;-0.9;2.64;-0.9;2.64;2.64	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	N	0.12422	0.21	0.49687	D	0.999814	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.99	T	0.66630	-0.5875	10	0.02654	T	1	-21.327	15.4594	0.75342	1.0:0.0:0.0:0.0	.	281;247	P52739;P52739-2	ZN131_HUMAN;.	R	247;281;247;281;247;247	ENSP00000422079:K247R;ENSP00000426504:K281R;ENSP00000305804:K247R;ENSP00000382450:K281R;ENSP00000423945:K247R;ENSP00000421246:K247R	ENSP00000305804:K247R	K	+	2	0	ZNF131	43197578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.906000	0.75719	2.058000	0.61347	0.528000	0.53228	AAA	.	.		0.378	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432	
NNT	23530	hgsc.bcm.edu	37	5	43628311	43628311	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:43628311T>C	ENST00000264663.5	+	7	1007	c.786T>C	c.(784-786)gcT>gcC	p.A262A	NNT_ENST00000512996.2_Silent_p.A131A|NNT_ENST00000344920.4_Silent_p.A262A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	262				A -> S (in Ref. 1; AAC51914). {ECO:0000305}.	cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GAGCTGCAGCTTTGGAACAGT	0.413																																					p.A262A		Atlas-SNP	.											.	NNT	92	.	0			c.T786C						.						112.0	117.0	115.0					5																	43628311		2203	4300	6503	SO:0001819	synonymous_variant	23530	exon7			TGCAGCTTTGGAA	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.786T>C	chr5.hg19:g.43628311T>C		255.0	0.0		139.0	6.0	NM_182977	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	hg19	CCDS3949.1																																																																																			.	.		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
GPX8	493869	hgsc.bcm.edu	37	5	54459895	54459895	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:54459895A>G	ENST00000503787.1	+	3	554	c.479A>G	c.(478-480)aAg>aGg	p.K160R	GPX8_ENST00000296734.6_Missense_Mutation_p.R73G|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.K109R|CDC20B_ENST00000331730.3_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	160					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TCTTCAAAGAAGGAACCAAGG	0.368																																					p.K160R		Atlas-SNP	.											.	GPX8	20	.	0			c.A479G						.						58.0	62.0	61.0					5																	54459895		2203	4300	6503	SO:0001583	missense	493869	exon3			CAAAGAAGGAACC	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.479A>G	chr5.hg19:g.54459895A>G	ENSP00000423822:p.Lys160Arg	87.0	0.0		52.0	4.0	NM_001008397		Missense_Mutation	SNP	ENST00000503787.1	hg19	CCDS34156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.58|15.58	2.875565|2.875565	0.51695|0.51695	.|.	.|.	ENSG00000164294|ENSG00000164294	ENST00000503787;ENST00000515370|ENST00000296734	T;T|.	0.03831|.	3.79;3.79|.	5.92|5.92	3.52|3.52	0.40303|0.40303	Thioredoxin-like fold (2);|.	0.126441|.	0.64402|.	N|.	0.000001|.	T|T	0.60457|0.60457	0.2270|0.2270	L|L	0.58583|0.58583	1.82|1.82	0.43172|0.43172	D|D	0.994973|0.994973	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.58493|0.58493	-0.7627|-0.7627	10|6	0.66056|0.54805	D|T	0.02|0.06	.|.	7.4915|7.4915	0.27464|0.27464	0.6612:0.2708:0.068:0.0|0.6612:0.2708:0.068:0.0	.|.	109;160|.	E7ETY7;Q8TED1|.	.;GPX8_HUMAN|.	R|G	160;109|73	ENSP00000423822:K160R;ENSP00000427466:K109R|.	ENSP00000423822:K160R|ENSP00000296734:R73G	K|R	+|+	2|1	0|2	GPX8|GPX8	54495652|54495652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.537000|4.537000	0.60643|0.60643	0.476000|0.476000	0.27440|0.27440	0.528000|0.528000	0.53228|0.53228	AAG|AGG	.	.		0.368	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397	
ERBB2IP	55914	hgsc.bcm.edu	37	5	65321309	65321309	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:65321309T>C	ENST00000284037.5	+	11	1208	c.819T>C	c.(817-819)ggT>ggC	p.G273G	ERBB2IP_ENST00000380943.2_Splice_Site_p.G273G|ERBB2IP_ENST00000508515.1_Splice_Site_p.G273G|ERBB2IP_ENST00000380936.1_Splice_Site_p.G273G|ERBB2IP_ENST00000416865.2_Splice_Site_p.G273G|ERBB2IP_ENST00000380938.2_Splice_Site_p.G273G|ERBB2IP_ENST00000511297.1_Splice_Site_p.G273G|ERBB2IP_ENST00000506030.1_Splice_Site_p.G273G|ERBB2IP_ENST00000380935.1_Splice_Site_p.G273G|ERBB2IP_ENST00000380939.2_Splice_Site_p.G273G	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	273					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCTCATTAGGTTCGTTGAAGA	0.353																																					p.G273G		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.T819C						.						173.0	164.0	167.0					5																	65321309		2203	4299	6502	SO:0001630	splice_region_variant	55914	exon11			ATTAGGTTCGTTG		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.818-1T>C	chr5.hg19:g.65321309T>C		78.0	0.0		56.0	4.0	NM_001253701	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	hg19	CCDS58953.1																																																																																			.	.		0.353	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Silent
MAP1B	4131	hgsc.bcm.edu	37	5	71492148	71492148	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:71492148A>G	ENST00000296755.7	+	5	3264	c.2966A>G	c.(2965-2967)aAg>aGg	p.K989R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	989					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAGGGAGAAGAGGGAGTCT	0.562																																					p.K989R	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.A2966G						.						75.0	75.0	75.0					5																	71492148		2203	4300	6503	SO:0001583	missense	4131	exon5			GGGAGAAGAGGGA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2966A>G	chr5.hg19:g.71492148A>G	ENSP00000296755:p.Lys989Arg	222.0	0.0		123.0	5.0	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.722191	0.48728	.	.	ENSG00000131711	ENST00000296755	T	0.03920	3.76	6.08	6.08	0.98989	.	0.085246	0.51477	D	0.000099	T	0.03348	0.0097	N	0.08118	0	0.38208	D	0.940389	B;B	0.29188	0.236;0.236	B;B	0.24848	0.056;0.031	T	0.58059	-0.7703	10	0.22706	T	0.39	-25.627	16.3172	0.82932	1.0:0.0:0.0:0.0	.	863;989	A2BDK6;P46821	.;MAP1B_HUMAN	R	989	ENSP00000296755:K989R	ENSP00000296755:K989R	K	+	2	0	MAP1B	71527904	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.108000	0.50337	2.333000	0.79357	0.533000	0.62120	AAG	.	.		0.562	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
ZNF366	167465	hgsc.bcm.edu	37	5	71756449	71756449	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:71756449T>C	ENST00000318442.5	-	2	1365	c.875A>G	c.(874-876)cAg>cGg	p.Q292R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	292					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGGCTGAGCTGCTTGAAGAG	0.622																																					p.Q292R		Atlas-SNP	.											.	ZNF366	108	.	0			c.A875G						.						112.0	99.0	103.0					5																	71756449		2203	4300	6503	SO:0001583	missense	167465	exon2			CTGAGCTGCTTGA	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.875A>G	chr5.hg19:g.71756449T>C	ENSP00000313158:p.Gln292Arg	146.0	0.0		98.0	4.0	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	hg19	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278874	0.80692	.	.	ENSG00000178175	ENST00000318442	T	0.74632	-0.86	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	T	0.71517	0.3349	N	0.11845	0.185	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	T	0.72717	-0.4209	10	0.31617	T	0.26	-52.0909	16.1338	0.81465	0.0:0.0:0.0:1.0	.	292	Q8N895	ZN366_HUMAN	R	292	ENSP00000313158:Q292R	ENSP00000313158:Q292R	Q	-	2	0	ZNF366	71792205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	CAG	.	.		0.622	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
ST8SIA4	7903	hgsc.bcm.edu	37	5	100222062	100222062	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:100222062T>C	ENST00000231461.5	-	3	798	c.488A>G	c.(487-489)cAc>cGc	p.H163R	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.H163R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	163					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TACAAAATTGTGACTGTCAAT	0.353																																					p.H163R		Atlas-SNP	.											.	ST8SIA4	77	.	0			c.A488G						.						66.0	68.0	67.0					5																	100222062		2203	4300	6503	SO:0001583	missense	7903	exon3			AAATTGTGACTGT	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.488A>G	chr5.hg19:g.100222062T>C	ENSP00000231461:p.His163Arg	132.0	0.0		95.0	4.0	NM_175052	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	hg19	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562779	0.86335	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.35605	1.3;1.3	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.93594	3.435	0.80722	D	1	P	0.46706	0.883	P	0.52909	0.713	T	0.67409	-0.5678	10	0.25751	T	0.34	-3.8465	15.5406	0.76043	0.0:0.0:0.0:1.0	.	163	Q92187	SIA8D_HUMAN	R	163	ENSP00000231461:H163R;ENSP00000428914:H163R	ENSP00000231461:H163R	H	-	2	0	ST8SIA4	100249961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.266000	0.75297	0.455000	0.32223	CAC	.	.		0.353	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
FER	2241	hgsc.bcm.edu	37	5	108436123	108436123	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:108436123A>G	ENST00000281092.4	+	17	2335	c.1951A>G	c.(1951-1953)Agg>Ggg	p.R651G	FER_ENST00000438717.2_Missense_Mutation_p.R476G	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTTCTGAGAAGGAAGAAGGA	0.353																																					p.R651G	Colon(146;1051 1799 9836 27344 47401)	Atlas-SNP	.											.	FER	100	.	0			c.A1951G						.						69.0	75.0	73.0					5																	108436123		2202	4300	6502	SO:0001583	missense	2241	exon17			CTGAGAAGGAAGA	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1951A>G	chr5.hg19:g.108436123A>G	ENSP00000281092:p.Arg651Gly	122.0	0.0		74.0	4.0	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671928	0.47781	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.83335	-1.71;-1.71	5.35	5.35	0.76521	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047719	0.85682	D	0.000000	T	0.75664	0.3880	L	0.31157	0.91	0.38468	D	0.947384	B	0.06786	0.001	B	0.11329	0.006	T	0.72462	-0.4286	10	0.38643	T	0.18	-13.2319	15.6245	0.76845	1.0:0.0:0.0:0.0	.	651	P16591	FER_HUMAN	G	651;476	ENSP00000281092:R651G;ENSP00000394297:R476G	ENSP00000281092:R651G	R	+	1	2	FER	108464022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.768000	0.91737	2.161000	0.67846	0.374000	0.22700	AGG	.	.		0.353	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
YTHDC2	64848	hgsc.bcm.edu	37	5	112920155	112920155	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:112920155T>C	ENST00000161863.4	+	26	4017	c.3804T>C	c.(3802-3804)ccT>ccC	p.P1268P		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1268	Ser-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTGCTAGTCCTTCTCCTCCAT	0.393																																					p.P1268P		Atlas-SNP	.											.	YTHDC2	118	.	0			c.T3804C						.						142.0	125.0	131.0					5																	112920155		2202	4300	6502	SO:0001819	synonymous_variant	64848	exon26			TAGTCCTTCTCCT	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3804T>C	chr5.hg19:g.112920155T>C		159.0	0.0		98.0	4.0	NM_022828	B2RP66	Silent	SNP	ENST00000161863.4	hg19	CCDS4113.1																																																																																			.	.		0.393	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
PGGT1B	5229	hgsc.bcm.edu	37	5	114548112	114548112	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:114548112T>C	ENST00000419445.1	-	9	1141	c.1121A>G	c.(1120-1122)cAt>cGt	p.H374R	PGGT1B_ENST00000379615.3_Missense_Mutation_p.H297R	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	374					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		TGTGGAGATATGTACATTCTC	0.423																																					p.H374R		Atlas-SNP	.											.	PGGT1B	26	.	0			c.A1121G						.						140.0	128.0	132.0					5																	114548112		2202	4300	6502	SO:0001583	missense	5229	exon9			GAGATATGTACAT		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.1121A>G	chr5.hg19:g.114548112T>C	ENSP00000404676:p.His374Arg	296.0	0.0		153.0	52.0	NM_005023	Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	hg19	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392167	0.25118	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.42513	1.03;0.97	5.53	3.09	0.35607	.	0.341401	0.27117	N	0.020845	T	0.30324	0.0761	N	0.22421	0.69	0.09310	N	1	B;B	0.26258	0.145;0.02	B;B	0.28465	0.09;0.005	T	0.16928	-1.0386	10	0.41790	T	0.15	-3.1303	12.9202	0.58228	0.0:0.0:0.4221:0.5779	.	297;374	P53609-2;P53609	.;PGTB1_HUMAN	R	374;297	ENSP00000404676:H374R;ENSP00000368935:H297R	ENSP00000368935:H297R	H	-	2	0	PGGT1B	114576011	0.426000	0.25506	0.005000	0.12908	0.946000	0.59487	0.486000	0.22340	0.374000	0.24650	0.477000	0.44152	CAT	.	.		0.423	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023	
DMXL1	1657	hgsc.bcm.edu	37	5	118469314	118469314	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:118469314A>G	ENST00000311085.8	+	12	1775	c.1695A>G	c.(1693-1695)aaA>aaG	p.K565K	DMXL1_ENST00000539542.1_Silent_p.K565K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	565										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAAACAAAAACCTTCTGGCC	0.378																																					p.K565K		Atlas-SNP	.											.	DMXL1	268	.	0			c.A1695G						.																																			SO:0001819	synonymous_variant	1657	exon12			ACAAAAACCTTCT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1695A>G	chr5.hg19:g.118469314A>G		179.0	0.0		103.0	5.0	NM_005509		Silent	SNP	ENST00000311085.8	hg19	CCDS4125.1																																																																																			.	.		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130834162	130834162	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:130834162A>G	ENST00000509018.1	-	12	1598	c.1393T>C	c.(1393-1395)Ttt>Ctt	p.F465L	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.F465L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.F180L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.F465L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.F465L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.F465L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.F465L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.F515L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	465	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCGATCTTAAACCATTCCAAT	0.318																																					p.F465L	Melanoma(168;435 1955 13113 13877 23213)	Atlas-SNP	.											.	RAPGEF6	361	.	0			c.T1393C						.						78.0	83.0	82.0					5																	130834162		2203	4300	6503	SO:0001583	missense	51735	exon12			TCTTAAACCATTC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1393T>C	chr5.hg19:g.130834162A>G	ENSP00000421684:p.Phe465Leu	119.0	0.0		87.0	4.0	NM_016340	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169127	0.57584	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.46	4.28	0.50868	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.997;1.0;0.993;0.992;0.999;0.995;0.999	T	0.77378	-0.2610	10	0.87932	D	0	.	12.5614	0.56283	0.8607:0.1393:0.0:0.0	.	465;465;465;180;515;465;465	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	465;465;465;465;465;180;465;465;515	ENSP00000421684:F465L;ENSP00000309298:F465L;ENSP00000426081:F465L;ENSP00000296859:F465L;ENSP00000426910:F180L;ENSP00000311419:F465L;ENSP00000425389:F465L;ENSP00000426948:F515L	ENSP00000426948:F515L	F	-	1	0	RAPGEF6;FNIP1	130862061	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	8.957000	0.93082	0.864000	0.35578	-0.313000	0.08912	TTT	.	.		0.318	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
FAM53C	51307	hgsc.bcm.edu	37	5	137682560	137682560	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:137682560T>C	ENST00000239906.5	+	5	1519	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.V364A|FAM53C_ENST00000513056.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	364										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGGGGCTGTGCGGTGGGGT	0.607																																					p.V364A		Atlas-SNP	.											FAM53C,colon,carcinoma,-1,1	FAM53C	35	.	0			c.T1091C						.						37.0	45.0	42.0					5																	137682560		2203	4300	6503	SO:0001583	missense	51307	exon5			GGGCTGTGCGGTG	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1091T>C	chr5.hg19:g.137682560T>C	ENSP00000239906:p.Val364Ala	106.0	0.0		72.0	3.0	NM_001135647	B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	hg19	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217430	0.39201	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.42513	0.97;0.97	5.72	3.21	0.36854	.	0.692831	0.13629	N	0.373862	T	0.22666	0.0547	N	0.22421	0.69	0.22412	N	0.999122	B	0.15930	0.015	B	0.11329	0.006	T	0.09487	-1.0672	10	0.20046	T	0.44	-0.0209	2.4711	0.04564	0.2145:0.0797:0.128:0.5777	.	364	Q9NYF3	FA53C_HUMAN	A	364	ENSP00000403705:V364A;ENSP00000239906:V364A	ENSP00000239906:V364A	V	+	2	0	FAM53C	137710459	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.951000	0.40333	2.171000	0.68590	0.533000	0.62120	GTG	.	.		0.607	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
PCDHB7	56129	hgsc.bcm.edu	37	5	140552784	140552784	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:140552784T>C	ENST00000231137.3	+	1	542	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTATGGGTCAGAGACATC	0.463																																					p.V123A		Atlas-SNP	.											PCDHB7,NS,carcinoma,0,1	PCDHB7	231	.	0			c.T368C						.						65.0	69.0	68.0					5																	140552784		2203	4300	6503	SO:0001583	missense	56129	exon1			TATGGGTCAGAGA	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.368T>C	chr5.hg19:g.140552784T>C	ENSP00000231137:p.Val123Ala	91.0	0.0		48.0	3.0	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796977	0.50208	.	.	ENSG00000113212	ENST00000231137	T	0.63255	-0.03	4.61	4.61	0.57282	Cadherin conserved site (1);	.	.	.	.	T	0.78142	0.4237	H	0.97186	3.955	0.09310	N	1	D	0.54964	0.969	P	0.45881	0.496	T	0.76753	-0.2843	9	0.87932	D	0	.	13.9717	0.64245	0.0:0.0:0.0:1.0	.	123	Q9Y5E2	PCDB7_HUMAN	A	123	ENSP00000231137:V123A	ENSP00000231137:V123A	V	+	2	0	PCDHB7	140532968	0.982000	0.34865	0.864000	0.33941	0.224000	0.24922	7.958000	0.87877	1.823000	0.53134	0.533000	0.62120	GTC	.	.		0.463	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHGB6	56100	hgsc.bcm.edu	37	5	140790042	140790042	+	Missense_Mutation	SNP	A	A	G	rs185995562		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:140790042A>G	ENST00000520790.1	+	1	2273	c.2273A>G	c.(2272-2274)cAt>cGt	p.H758R	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	758					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCATTGCACATACGGGTACA	0.453																																					p.H758R		Atlas-SNP	.											.	PCDHGB6	120	.	0			c.A2273G						.						120.0	118.0	118.0					5																	140790042		1926	4147	6073	SO:0001583	missense	56100	exon1			TTGCACATACGGG	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2273A>G	chr5.hg19:g.140790042A>G	ENSP00000428603:p.His758Arg	194.0	0.0		125.0	5.0	NM_032100	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	0.244	-1.011492	0.02095	.	.	ENSG00000253305	ENST00000520790	T	0.45276	0.9	5.39	5.39	0.77823	.	.	.	.	.	T	0.30634	0.0771	L	0.28274	0.84	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.10450	0.002;0.005	T	0.13629	-1.0502	9	0.11485	T	0.65	.	14.3903	0.66973	1.0:0.0:0.0:0.0	.	758;758	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	758	ENSP00000428603:H758R	ENSP00000428603:H758R	H	+	2	0	PCDHGB6	140770226	0.010000	0.17322	0.028000	0.17463	0.016000	0.09150	1.872000	0.39549	2.038000	0.60285	0.460000	0.39030	CAT	.	A|1.000;T|0.000		0.453	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
RBM27	54439	hgsc.bcm.edu	37	5	145613206	145613206	+	Silent	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:145613206C>T	ENST00000265271.5	+	7	1210	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	RBM27_ENST00000506502.1_Silent_p.G348G	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	348	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			caggtccaggcccaggcccgg	0.632																																					p.G348G		Atlas-SNP	.											.	RBM27	119	.	0			c.C1044T						.						41.0	43.0	42.0					5																	145613206		1568	3582	5150	SO:0001819	synonymous_variant	54439	exon7			TCCAGGCCCAGGC	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1044C>T	chr5.hg19:g.145613206C>T		156.0	0.0		68.0	17.0	NM_018989	Q8IYW9	Silent	SNP	ENST00000265271.5	hg19	CCDS43378.1																																																																																			.	.		0.632	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
RBM27	54439	hgsc.bcm.edu	37	5	145613209	145613209	+	Silent	SNP	A	A	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:145613209A>T	ENST00000265271.5	+	7	1213	c.1047A>T	c.(1045-1047)ccA>ccT	p.P349P	RBM27_ENST00000506502.1_Silent_p.P349P	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	349	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gtccaggcccaggcccgggcc	0.632																																					p.P349P		Atlas-SNP	.											RBM27,colon,carcinoma,0,1	RBM27	119	.	0			c.A1047T						.						38.0	40.0	40.0					5																	145613209		1568	3582	5150	SO:0001819	synonymous_variant	54439	exon7			AGGCCCAGGCCCG	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1047A>T	chr5.hg19:g.145613209A>T		162.0	0.0		71.0	16.0	NM_018989	Q8IYW9	Silent	SNP	ENST00000265271.5	hg19	CCDS43378.1																																																																																			.	.		0.632	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
HRH2	3274	hgsc.bcm.edu	37	5	175111079	175111079	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:175111079A>G	ENST00000231683.2	+	1	2616	c.843A>G	c.(841-843)tcA>tcG	p.S281S	HRH2_ENST00000377291.2_Silent_p.S281S	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	281					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ATGCCAACTCAGCCCTGAACC	0.562																																					p.S281S		Atlas-SNP	.											.	HRH2	108	.	0			c.A843G						.						124.0	96.0	106.0					5																	175111079		2203	4300	6503	SO:0001819	synonymous_variant	3274	exon2			CAACTCAGCCCTG		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.843A>G	chr5.hg19:g.175111079A>G		144.0	0.0		83.0	4.0	NM_001131055	B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	hg19	CCDS4395.1																																																																																			.	.		0.562	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
RMND5B	64777	hgsc.bcm.edu	37	5	177570698	177570698	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:177570698T>C	ENST00000515098.1	+	7	848	c.497T>C	c.(496-498)cTg>cCg	p.L166P	RMND5B_ENST00000542098.1_Missense_Mutation_p.L153P|RMND5B_ENST00000313386.4_Missense_Mutation_p.L166P			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	166	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAGCCCTGCACGAACAA	0.542																																					p.L166P		Atlas-SNP	.											.	RMND5B	37	.	0			c.T497C						.						106.0	105.0	106.0					5																	177570698		2203	4300	6503	SO:0001583	missense	64777	exon6			AAGCCCTGCACGA	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.497T>C	chr5.hg19:g.177570698T>C	ENSP00000420875:p.Leu166Pro	157.0	0.0		107.0	5.0	NM_022762	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	hg19	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671594	0.67928	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.15	4.15	0.48705	CTLH, C-terminal LisH motif (2);	0.185437	0.35936	N	0.002894	T	0.81489	0.4833	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.84479	0.0604	9	0.87932	D	0	-13.9828	9.5119	0.39082	0.0:0.0:0.0:1.0	.	153;153;166	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	P	166;166;153	.	ENSP00000320623:L166P	L	+	2	0	RMND5B	177503304	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	6.993000	0.76245	1.749000	0.51849	0.379000	0.24179	CTG	.	.		0.542	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762	
CANX	821	hgsc.bcm.edu	37	5	179155615	179155615	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr5:179155615A>G	ENST00000247461.4	+	15	1949	c.1749A>G	c.(1747-1749)tcA>tcG	p.S583S	CANX_ENST00000504734.1_Silent_p.S583S|CANX_ENST00000415618.2_Silent_p.S618S|CANX_ENST00000452673.2_Silent_p.S583S|CANX_ENST00000512607.2_Silent_p.S475S	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	583	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TGAACAGATCACCAAGAAACA	0.363																																					p.S583S		Atlas-SNP	.											.	CANX	47	.	0			c.A1749G						.						70.0	63.0	65.0					5																	179155615		2203	4300	6503	SO:0001819	synonymous_variant	821	exon15			CAGATCACCAAGA	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1749A>G	chr5.hg19:g.179155615A>G		226.0	0.0		92.0	4.0	NM_001746	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	hg19	CCDS4447.1																																																																																			.	.		0.363	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649	
PAK1IP1	55003	hgsc.bcm.edu	37	6	10702604	10702604	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:10702604A>G	ENST00000379568.3	+	3	541	c.250A>G	c.(250-252)Aca>Gca	p.T84A		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	84					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTCCATAGGTACAATAACTTG	0.358																																					p.T84A		Atlas-SNP	.											.	PAK1IP1	30	.	0			c.A250G						.						58.0	57.0	57.0					6																	10702604		2203	4300	6503	SO:0001583	missense	55003	exon3			ATAGGTACAATAA	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.250A>G	chr6.hg19:g.10702604A>G	ENSP00000368887:p.Thr84Ala	97.0	0.0		76.0	17.0	NM_017906	Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	hg19	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246275	0.80024	.	.	ENSG00000111845	ENST00000379568	T	0.40756	1.02	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044405	0.85682	D	0.000000	T	0.23330	0.0564	L	0.31120	0.905	0.58432	D	0.999999	B	0.33171	0.4	B	0.41946	0.371	T	0.11867	-1.0570	10	0.22706	T	0.39	-0.2316	12.7401	0.57246	1.0:0.0:0.0:0.0	.	84	Q9NWT1	PK1IP_HUMAN	A	84	ENSP00000368887:T84A	ENSP00000368887:T84A	T	+	1	0	PAK1IP1	10810590	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.072000	0.93986	2.254000	0.74563	0.533000	0.62120	ACA	.	.		0.358	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906	
CDKAL1	54901	hgsc.bcm.edu	37	6	21065331	21065331	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:21065331A>G	ENST00000378610.1	+	10	1118	c.1108A>G	c.(1108-1110)Aca>Gca	p.T370A	CDKAL1_ENST00000378624.4_Missense_Mutation_p.T300A|CDKAL1_ENST00000274695.4_Missense_Mutation_p.T370A			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	370					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCCTGGAGAAACAGATCAGGA	0.353																																					p.T370A		Atlas-SNP	.											.	CDKAL1	55	.	0			c.A1108G						.						83.0	83.0	83.0					6																	21065331		2203	4300	6503	SO:0001583	missense	54901	exon12			GGAGAAACAGATC	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1108A>G	chr6.hg19:g.21065331A>G	ENSP00000367873:p.Thr370Ala	146.0	0.0		125.0	5.0	NM_017774	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	hg19	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556035	0.86231	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.36878	1.23;1.23;1.23	5.76	5.76	0.90799	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	H	0.95504	3.68	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.66497	0.944;0.92	T	0.77520	-0.2557	10	0.87932	D	0	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	300;370	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	A	370;300;370	ENSP00000274695:T370A;ENSP00000367889:T300A;ENSP00000367873:T370A	ENSP00000274695:T370A	T	+	1	0	CDKAL1	21173310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.324000	0.78689	0.533000	0.62120	ACA	.	.		0.353	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
GNL1	2794	hgsc.bcm.edu	37	6	30523924	30523924	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:30523924T>C	ENST00000376621.3	-	1	1027	c.57A>G	c.(55-57)aaA>aaG	p.K19K	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	19					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGCTCCCGTTTGTCCTGCA	0.677																																					p.K19K		Atlas-SNP	.											.	GNL1	47	.	0			c.A57G						.						89.0	87.0	88.0					6																	30523924		1511	2709	4220	SO:0001819	synonymous_variant	2794	exon1			CTCCCGTTTGTCC		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.57A>G	chr6.hg19:g.30523924T>C		111.0	0.0		89.0	4.0	NM_005275	B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	hg19	CCDS4680.1																																																																																			.	.		0.677	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2		
FLOT1	10211	hgsc.bcm.edu	37	6	30707949	30707949	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:30707949C>A	ENST00000376389.3	-	8	929	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.A189S	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	AGCTGATAGGCCAGGTCAGCC	0.562																																					p.A237S		Atlas-SNP	.											.	FLOT1	28	.	0			c.G709T						.						94.0	71.0	79.0					6																	30707949		1511	2709	4220	SO:0001583	missense	10211	exon8			GATAGGCCAGGTC	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.709G>T	chr6.hg19:g.30707949C>A	ENSP00000365569:p.Ala237Ser	93.0	0.0		91.0	24.0	NM_005803	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000376389.3	hg19	CCDS4688.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249218	0.59103	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160	D;T;D	0.96992	-3.79;1.3;-4.2	4.74	3.87	0.44632	.	0.058090	0.64402	D	0.000002	D	0.92586	0.7645	M	0.67625	2.065	0.51767	D	0.999934	B;B	0.32324	0.364;0.104	B;B	0.34489	0.184;0.117	D	0.92269	0.5823	10	0.56958	D	0.05	-16.5585	10.9434	0.47287	0.0:0.8114:0.1886:0.0	.	189;237	B4DVY7;O75955	.;FLOT1_HUMAN	S	237;189;174;237;142	ENSP00000365569:A237S;ENSP00000394375:A189S;ENSP00000400615:A237S	ENSP00000365569:A237S	A	-	1	0	FLOT1	30815928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.160000	0.77495	1.212000	0.43366	0.609000	0.83330	GCC	.	.		0.562	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2		
VWA7	80737	hgsc.bcm.edu	37	6	31740763	31740763	+	Missense_Mutation	SNP	A	A	G	rs377401343|rs149806946	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:31740763A>G	ENST00000375688.4	-	7	1255	c.1055T>C	c.(1054-1056)gTc>gCc	p.V352A	VWA7_ENST00000447450.1_Missense_Mutation_p.V352A|VWA7_ENST00000375686.3_Missense_Mutation_p.V352A|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	352	VWFA.					extracellular region (GO:0005576)											GACATAGTGGACAGGCTCCAT	0.577																																					p.V352A		Atlas-SNP	.											.,1	.	.	.	0			c.T1055C						.						46.0	41.0	43.0					6																	31740763		1510	2707	4217	SO:0001583	missense	80737	exon7			TAGTGGACAGGCT		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1055T>C	chr6.hg19:g.31740763A>G	ENSP00000364840:p.Val352Ala	22.0	0.0		12.0	5.0	NM_025258	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	hg19	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	A	0	-2.652399	0.00109	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97731	-4.51;-4.51;-4.51	5.74	-11.5	0.00074	von Willebrand factor, type A (1);	3.072470	0.00866	N	0.001976	T	0.81659	0.4869	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71130	-0.4682	10	0.02654	T	1	0.7122	9.8299	0.40934	0.0705:0.2652:0.5324:0.1319	.	352	Q9Y334	G7C_HUMAN	A	352	ENSP00000364840:V352A;ENSP00000364838:V352A;ENSP00000390554:V352A	ENSP00000364838:V352A	V	-	2	0	C6orf27	31848742	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-4.526000	0.00220	-4.969000	0.00025	-0.385000	0.06624	GTC	.	.		0.577	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
UHRF1BP1	54887	hgsc.bcm.edu	37	6	34831811	34831811	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:34831811C>T	ENST00000192788.5	+	15	3419	c.3248C>T	c.(3247-3249)gCa>gTa	p.A1083V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1083V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1083							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGGGGGTGGCAGCCCCAGTG	0.473																																					p.A1083V		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.C3248T						.						73.0	80.0	78.0					6																	34831811		1977	4130	6107	SO:0001583	missense	54887	exon15			GGGTGGCAGCCCC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3248C>T	chr6.hg19:g.34831811C>T	ENSP00000192788:p.Ala1083Val	99.0	0.0		61.0	17.0	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	hg19	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	9.151	1.016206	0.19355	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.17528	2.27;2.27	6.04	0.942	0.19525	.	1.000120	0.08080	N	1.000000	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48019	-0.9071	10	0.14252	T	0.57	-1.4049	6.3567	0.21404	0.0:0.507:0.1343:0.3586	.	1083	Q6BDS2	URFB1_HUMAN	V	1083	ENSP00000192788:A1083V;ENSP00000400628:A1083V	ENSP00000192788:A1083V	A	+	2	0	UHRF1BP1	34939789	0.000000	0.05858	0.066000	0.19879	0.615000	0.37417	0.611000	0.24268	0.439000	0.26476	0.561000	0.74099	GCA	.	.		0.473	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
MRPS10	55173	hgsc.bcm.edu	37	6	42185570	42185570	+	Silent	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:42185570C>A	ENST00000053468.3	-	1	33	c.18G>T	c.(16-18)gcG>gcT	p.A6A		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	6						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CAGCACCGAACGCTGTCCGCG	0.597																																					p.A6A		Atlas-SNP	.											.	MRPS10	9	.	0			c.G18T						.						24.0	28.0	26.0					6																	42185570		2203	4300	6503	SO:0001819	synonymous_variant	55173	exon1			ACCGAACGCTGTC		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.18G>T	chr6.hg19:g.42185570C>A		85.0	0.0		59.0	16.0	NM_018141	B2RE89|Q9H3E5|Q9NVR3	Silent	SNP	ENST00000053468.3	hg19	CCDS4866.1																																																																																			.	.		0.597	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1		
CUL9	23113	hgsc.bcm.edu	37	6	43183025	43183025	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:43183025T>C	ENST00000252050.4	+	30	5981	c.5897T>C	c.(5896-5898)gTc>gCc	p.V1966A	CUL9_ENST00000354495.3_Missense_Mutation_p.V1856A|CUL9_ENST00000372647.2_Missense_Mutation_p.V1938A|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1966					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGCAGATGTCCCTTTCTGT	0.627																																					p.V1966A		Atlas-SNP	.											.	CUL9	248	.	0			c.T5897C						.						56.0	55.0	55.0					6																	43183025		2203	4300	6503	SO:0001583	missense	23113	exon30			CAGATGTCCCTTT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5897T>C	chr6.hg19:g.43183025T>C	ENSP00000252050:p.Val1966Ala	80.0	0.0		66.0	4.0	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74737	-0.87;-0.87;-0.75	5.65	5.65	0.86999	.	0.704021	0.13424	N	0.388888	T	0.56601	0.1996	L	0.44542	1.39	0.38148	D	0.938657	P;B;B	0.36837	0.571;0.034;0.034	B;B;B	0.33392	0.163;0.025;0.025	T	0.64076	-0.6492	10	0.59425	D	0.04	-6.9265	14.4426	0.67327	0.0:0.0:0.0:1.0	.	1856;1938;1966	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	A	1966;1856;1938	ENSP00000252050:V1966A;ENSP00000346490:V1856A;ENSP00000361730:V1938A	ENSP00000252050:V1966A	V	+	2	0	CUL9	43291003	1.000000	0.71417	0.942000	0.38095	0.723000	0.41478	5.684000	0.68197	2.140000	0.66376	0.459000	0.35465	GTC	.	.		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
C6orf223	221416	hgsc.bcm.edu	37	6	43970788	43970788	+	Silent	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:43970788G>T	ENST00000336600.5	+	4	674	c.654G>T	c.(652-654)cgG>cgT	p.R218R	RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000442114.2_Silent_p.R198R	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	218										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CAGGGGCACGGCTAATGCGCT	0.642																																					p.R218R		Atlas-SNP	.											.	C6orf223	14	.	0			c.G654T						.						27.0	34.0	31.0					6																	43970788		2202	4298	6500	SO:0001819	synonymous_variant	221416	exon4			GGCACGGCTAATG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.654G>T	chr6.hg19:g.43970788G>T		145.0	0.0		135.0	45.0	NM_153246	E9PB59|Q8N575	Silent	SNP	ENST00000336600.5	hg19	CCDS34459.1																																																																																			.	.		0.642	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246	
CAPN11	11131	hgsc.bcm.edu	37	6	44150883	44150883	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:44150883A>G	ENST00000398776.1	+	21	2083	c.2045A>G	c.(2044-2046)cAg>cGg	p.Q682R	CAPN11_ENST00000542245.1_Missense_Mutation_p.Q682R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	682	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGGTAATGCAGGTCCTGGTG	0.527																																					p.Q682R		Atlas-SNP	.											.	CAPN11	66	.	0			c.A2045G						.						143.0	137.0	139.0					6																	44150883		2004	4185	6189	SO:0001583	missense	11131	exon21			TAATGCAGGTCCT	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2045A>G	chr6.hg19:g.44150883A>G	ENSP00000381758:p.Gln682Arg	99.0	0.0		77.0	4.0	NM_007058	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	hg19	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129688	0.56721	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.30981	1.51;1.51	5.38	4.18	0.49190	EF-hand-like domain (1);	0.175587	0.27797	N	0.017817	T	0.43344	0.1243	M	0.80422	2.495	0.25852	N	0.98393	D	0.61080	0.989	D	0.70227	0.968	T	0.25152	-1.0140	10	0.87932	D	0	.	10.9092	0.47099	0.9248:0.0:0.0751:0.0	.	682	Q9UMQ6	CAN11_HUMAN	R	682	ENSP00000381758:Q682R;ENSP00000441078:Q682R	ENSP00000381758:Q682R	Q	+	2	0	CAPN11	44258861	1.000000	0.71417	0.306000	0.25113	0.141000	0.21300	5.788000	0.69020	2.255000	0.74692	0.523000	0.50628	CAG	.	.		0.527	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
PHIP	55023	hgsc.bcm.edu	37	6	79692705	79692705	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:79692705T>C	ENST00000275034.4	-	23	2834	c.2667A>G	c.(2665-2667)aaA>aaG	p.K889K	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	889	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		tttgcttctgtttttcagatt	0.333																																					p.K889K		Atlas-SNP	.											.	PHIP	177	.	0			c.A2667G						.																																			SO:0001819	synonymous_variant	55023	exon23			CTTCTGTTTTTCA	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2667A>G	chr6.hg19:g.79692705T>C		123.0	0.0		50.0	4.0	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	hg19	CCDS4987.1																																																																																			.	.		0.333	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
RNGTT	8732	hgsc.bcm.edu	37	6	89322527	89322527	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:89322527A>G	ENST00000369485.4	-	16	1891	c.1705T>C	c.(1705-1707)Tct>Cct	p.S569P	RNGTT_ENST00000265607.6_Missense_Mutation_p.S546P|RNGTT_ENST00000538899.1_Missense_Mutation_p.S486P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	569	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TGTCCTTGAGAAGCTGCAGTA	0.512																																					p.S569P		Atlas-SNP	.											.	RNGTT	52	.	0			c.T1705C						.						231.0	176.0	194.0					6																	89322527		2203	4300	6503	SO:0001583	missense	8732	exon16			CTTGAGAAGCTGC	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1705T>C	chr6.hg19:g.89322527A>G	ENSP00000358497:p.Ser569Pro	208.0	0.0		72.0	4.0	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	hg19	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	A	2.769	-0.256124	0.05829	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746	T;T;T	0.22945	1.93;1.93;1.93	5.84	3.35	0.38373	Nucleic acid-binding, OB-fold-like (1);	0.730694	0.14759	N	0.300081	T	0.04634	0.0126	N	0.19112	0.55	0.21652	N	0.9996	B;P;B	0.34977	0.0;0.478;0.347	B;B;B	0.31686	0.001;0.134;0.047	T	0.35101	-0.9802	10	0.25106	T	0.35	-2.9691	6.8469	0.23992	0.5041:0.1335:0.0:0.3624	.	486;546;569	B4DSJ8;O60942-2;O60942	.;.;MCE1_HUMAN	P	569;546;486;540	ENSP00000358497:S569P;ENSP00000265607:S546P;ENSP00000442609:S486P	ENSP00000265607:S546P	S	-	1	0	RNGTT	89379246	0.852000	0.29690	0.207000	0.23584	0.474000	0.32979	1.290000	0.33319	0.504000	0.28082	0.529000	0.55759	TCT	.	.		0.512	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
GABRR2	2570	hgsc.bcm.edu	37	6	89977775	89977775	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:89977775A>G	ENST00000402938.3	-	5	686	c.553T>C	c.(553-555)Ttt>Ctt	p.F185L	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.F210L	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	185					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCCAGGGGAAAGTGGCTGAAG	0.478																																					p.F185L		Atlas-SNP	.											.	GABRR2	41	.	0			c.T553C						.						115.0	95.0	102.0					6																	89977775		2203	4300	6503	SO:0001583	missense	2570	exon5			GGGGAAAGTGGCT		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.553T>C	chr6.hg19:g.89977775A>G	ENSP00000386029:p.Phe185Leu	293.0	0.0		89.0	4.0	NM_002043	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	hg19	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	A	34	5.389607	0.95988	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.82167	0.4978	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.85759	0.1348	8	.	.	.	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	210	P28476	GBRR2_HUMAN	L	210	.	.	F	-	1	0	GABRR2	90034494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.266000	0.75297	0.533000	0.62120	TTT	.	.		0.478	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3		
ANKRD6	22881	hgsc.bcm.edu	37	6	90326289	90326289	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:90326289A>G	ENST00000522441.1	+	8	1268	c.627A>G	c.(625-627)acA>acG	p.T209T	ANKRD6_ENST00000339746.4_Silent_p.T209T|ANKRD6_ENST00000520793.1_Silent_p.T176T|ANKRD6_ENST00000369408.5_Silent_p.T209T|ANKRD6_ENST00000485637.1_Silent_p.T209T|ANKRD6_ENST00000447838.2_Silent_p.T209T	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	209					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CTGGAGACACAGCACTTCACG	0.488																																					p.T209T		Atlas-SNP	.											.	ANKRD6	51	.	0			c.A627G						.						134.0	132.0	133.0					6																	90326289		1992	4181	6173	SO:0001819	synonymous_variant	22881	exon8			AGACACAGCACTT	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.627A>G	chr6.hg19:g.90326289A>G		287.0	0.0		100.0	4.0	NM_001242809	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	hg19	CCDS56441.1																																																																																			.	.		0.488	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
FBXL4	26235	hgsc.bcm.edu	37	6	99374410	99374410	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:99374410A>C	ENST00000369244.2	-	4	883	c.455T>G	c.(454-456)aTt>aGt	p.I152S	FBXL4_ENST00000229971.1_Missense_Mutation_p.I152S	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	152					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GAGAATTCTAATGACTGCTCC	0.393																																					p.I152S		Atlas-SNP	.											.	FBXL4	54	.	0			c.T455G						.						93.0	88.0	90.0					6																	99374410		2203	4300	6503	SO:0001583	missense	26235	exon3			ATTCTAATGACTG	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.455T>G	chr6.hg19:g.99374410A>C	ENSP00000358247:p.Ile152Ser	187.0	0.0		63.0	45.0	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	hg19	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035112	0.54896	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.14893	2.47;2.47	5.52	5.52	0.82312	.	0.050504	0.85682	D	0.000000	T	0.10423	0.0255	L	0.48642	1.525	0.53005	D	0.999967	B	0.32245	0.361	B	0.31686	0.134	T	0.02766	-1.1113	10	0.87932	D	0	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	152	Q9UKA2	FBXL4_HUMAN	S	152	ENSP00000358247:I152S;ENSP00000229971:I152S	ENSP00000229971:I152S	I	-	2	0	FBXL4	99481131	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.910000	0.92685	2.232000	0.73038	0.528000	0.53228	ATT	.	.		0.393	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
COQ3	51805	hgsc.bcm.edu	37	6	99823850	99823850	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:99823850T>C	ENST00000254759.3	-	5	719	c.695A>G	c.(694-696)gAa>gGa	p.E232G	COQ3_ENST00000369240.1_Intron|COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369242.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	232					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TAAAAATGTTTCTAGATCAAT	0.378																																					p.E232G		Atlas-SNP	.											.	COQ3	19	.	0			c.A695G						.						156.0	151.0	153.0					6																	99823850		2203	4300	6503	SO:0001583	missense	51805	exon5			AATGTTTCTAGAT	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.695A>G	chr6.hg19:g.99823850T>C	ENSP00000254759:p.Glu232Gly	164.0	0.0		63.0	4.0	NM_017421	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	hg19	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293444	0.60086	.	.	ENSG00000132423	ENST00000254759	T	0.15487	2.42	5.49	5.49	0.81192	Methyltransferase type 11 (1);	0.152438	0.64402	D	0.000017	T	0.26011	0.0634	L	0.58969	1.84	0.80722	D	1	D	0.60160	0.987	D	0.64506	0.926	T	0.01048	-1.1469	10	0.38643	T	0.18	-8.7894	15.5817	0.76448	0.0:0.0:0.0:1.0	.	232	Q9NZJ6	COQ3_HUMAN	G	232	ENSP00000254759:E232G	ENSP00000254759:E232G	E	-	2	0	COQ3	99930571	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.606000	0.82863	2.090000	0.63153	0.459000	0.35465	GAA	.	.		0.378	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421	
ASCC3	10973	hgsc.bcm.edu	37	6	101095214	101095214	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:101095214A>G	ENST00000369162.2	-	21	3710	c.3366T>C	c.(3364-3366)ggT>ggC	p.G1122G		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1122	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTAGCCCAACCCCAAAGCC	0.428																																					p.G1122G		Atlas-SNP	.											.	ASCC3	205	.	0			c.T3366C						.						115.0	113.0	114.0					6																	101095214		2203	4300	6503	SO:0001819	synonymous_variant	10973	exon21			AGCCCAACCCCAA	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3366T>C	chr6.hg19:g.101095214A>G		168.0	0.0		67.0	4.0	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	hg19	CCDS5046.1																																																																																			.	.		0.428	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
LAMA2	3908	hgsc.bcm.edu	37	6	129621989	129621989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:129621989G>A	ENST00000421865.2	+	22	3195	c.3146G>A	c.(3145-3147)tGg>tAg	p.W1049*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1049	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCAATACCTGGGGCCACAGC	0.428																																					p.W1049X		Atlas-SNP	.											.	LAMA2	481	.	0			c.G3146A						.						126.0	126.0	126.0					6																	129621989		2203	4300	6503	SO:0001587	stop_gained	3908	exon22			ATACCTGGGGCCA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3146G>A	chr6.hg19:g.129621989G>A	ENSP00000400365:p.Trp1049*	182.0	0.0		87.0	4.0	NM_000426	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	43	9.905006	0.99292	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1725	0.93585	0.0:0.0:1.0:0.0	.	.	.	.	X	1049	.	ENSP00000346769:W1049X	W	+	2	0	LAMA2	129663682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.471000	0.97696	2.515000	0.84797	0.585000	0.79938	TGG	.	.		0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
ZBTB2	57621	hgsc.bcm.edu	37	6	151686763	151686763	+	Missense_Mutation	SNP	C	C	T	rs529081721		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:151686763C>T	ENST00000325144.4	-	3	1578	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GATCGCCCTTCGTCTAGGGCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.001				p.E480K		Atlas-SNP	.											.	ZBTB2	30	.	0			c.G1438A						.						149.0	139.0	142.0					6																	151686763		2203	4300	6503	SO:0001583	missense	57621	exon3			GCCCTTCGTCTAG	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1438G>A	chr6.hg19:g.151686763C>T	ENSP00000323183:p.Glu480Lys	242.0	0.0		92.0	5.0	NM_020861	A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	hg19	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248474	0.59103	.	.	ENSG00000181472	ENST00000325144	T	0.04706	3.57	5.51	5.51	0.81932	.	0.212528	0.49305	D	0.000160	T	0.07369	0.0186	N	0.19112	0.55	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.47611	-0.9104	10	0.54805	T	0.06	-40.7497	19.4309	0.94765	0.0:1.0:0.0:0.0	.	480	Q8N680	ZBTB2_HUMAN	K	480	ENSP00000323183:E480K	ENSP00000323183:E480K	E	-	1	0	ZBTB2	151728456	0.999000	0.42202	0.866000	0.34008	0.890000	0.51754	4.144000	0.58057	2.595000	0.87683	0.563000	0.77884	GAA	.	.		0.473	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861	
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q		Atlas-SNP	.											.	TBP	58	.	0			c.G180A						.						43.0	45.0	44.0					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A		91.0	0.0		42.0	5.0	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																			.	.		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
SDK1	221935	hgsc.bcm.edu	37	7	4091349	4091349	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:4091349G>A	ENST00000404826.2	+	19	2937	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E	SDK1_ENST00000389531.3_Missense_Mutation_p.G933E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	933	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCCACCATGGACACATAACG	0.577																																					p.G933E		Atlas-SNP	.											.	SDK1	361	.	0			c.G2798A						.						152.0	135.0	141.0					7																	4091349		2203	4300	6503	SO:0001583	missense	221935	exon19			ACCATGGACACAT	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2798G>A	chr7.hg19:g.4091349G>A	ENSP00000385899:p.Gly933Glu	200.0	0.0		199.0	75.0	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667580	0.47677	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70876	0.3274	M	0.71296	2.17	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.71434	-0.4594	10	0.51188	T	0.08	.	14.519	0.67838	0.0:0.0:0.8536:0.1464	.	933;933	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	E	933	ENSP00000385899:G933E;ENSP00000374182:G933E	ENSP00000374182:G933E	G	+	2	0	SDK1	4057875	1.000000	0.71417	0.144000	0.22314	0.018000	0.09664	5.487000	0.66863	2.648000	0.89879	0.650000	0.86243	GGA	.	.		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
RNF216	54476	hgsc.bcm.edu	37	7	5781438	5781438	+	Intron	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:5781438T>C	ENST00000425013.2	-	4	426				RNF216_ENST00000389902.3_Silent_p.K70K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATCTCTGAGGTTTATTTGTCT	0.388																																					p.K70K		Atlas-SNP	.											.	RNF216	71	.	0			c.A210G						.						65.0	66.0	66.0					7																	5781438		2191	4268	6459	SO:0001627	intron_variant	54476	exon4			CTGAGGTTTATTT	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.202-163A>G	chr7.hg19:g.5781438T>C		96.0	0.0		89.0	4.0	NM_207111	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	hg19	CCDS34595.1																																																																																			.	.		0.388	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111	
GLCCI1	113263	hgsc.bcm.edu	37	7	8126065	8126065	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:8126065G>A	ENST00000223145.5	+	8	2098	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	514						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCACAGCGGGCTCCATGGAG	0.567																																					p.G514D		Atlas-SNP	.											.	GLCCI1	50	.	0			c.G1541A						.						144.0	163.0	157.0					7																	8126065		2203	4300	6503	SO:0001583	missense	113263	exon8			CAGCGGGCTCCAT	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1541G>A	chr7.hg19:g.8126065G>A	ENSP00000223145:p.Gly514Asp	132.0	0.0		161.0	7.0	NM_138426	A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	hg19	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859920	0.00552	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.32	1.38	0.22167	.	0.718744	0.14391	N	0.322490	T	0.10508	0.0257	N	0.02011	-0.69	0.28412	N	0.918128	B	0.06786	0.001	B	0.09377	0.004	T	0.34279	-0.9835	9	0.06494	T	0.89	-24.0877	5.2103	0.15312	0.2283:0.3187:0.4531:0.0	.	514	Q86VQ1	GLCI1_HUMAN	D	514	.	ENSP00000223145:G514D	G	+	2	0	GLCCI1	8092590	0.998000	0.40836	0.006000	0.13384	0.477000	0.33069	2.109000	0.41863	0.431000	0.26258	-0.150000	0.13652	GGC	.	.		0.567	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426	
SCIN	85477	hgsc.bcm.edu	37	7	12620702	12620702	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:12620702T>C	ENST00000297029.5	+	3	473	c.372T>C	c.(370-372)tcT>tcC	p.S124S		NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	124	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GCGTGGCATCTGGATTAAATC	0.478																																					p.S124S		Atlas-SNP	.											.	SCIN	105	.	0			c.T372C						.						182.0	141.0	153.0					7																	12620702		692	1591	2283	SO:0001819	synonymous_variant	85477	exon3			GGCATCTGGATTA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.372T>C	chr7.hg19:g.12620702T>C		103.0	0.0		94.0	4.0	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	hg19	CCDS47545.1																																																																																			.	.		0.478	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
SNX13	23161	hgsc.bcm.edu	37	7	17933019	17933019	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:17933019G>A	ENST00000409389.1	-	3	336	c.164C>T	c.(163-165)tCa>tTa	p.S55L	SNX13_ENST00000409604.1_Missense_Mutation_p.S55L|SNX13_ENST00000428135.3_Missense_Mutation_p.S55L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	55					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTACTTCTCTGAGTTTGTTTT	0.338																																					p.S55L		Atlas-SNP	.											.	SNX13	113	.	0			c.C164T						.						44.0	40.0	41.0					7																	17933019		1814	4067	5881	SO:0001583	missense	23161	exon3			TTCTCTGAGTTTG	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.164C>T	chr7.hg19:g.17933019G>A	ENSP00000386705:p.Ser55Leu	229.0	0.0		199.0	41.0	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.8	4.949072	0.92660	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	T;T	0.18810	2.19;2.46	5.71	5.71	0.89125	.	0.125660	0.56097	D	0.000026	T	0.36853	0.0982	L	0.34521	1.04	0.80722	D	1	D;P;P	0.63880	0.993;0.553;0.862	D;B;P	0.72338	0.977;0.142;0.607	T	0.01596	-1.1316	10	0.27785	T	0.31	-9.9993	19.4828	0.95017	0.0:0.0:1.0:0.0	.	55;55;55	Q9NSH0;B8ZZT9;Q9Y5W8-2	.;.;.	L	55;55;103;55	ENSP00000386705:S55L;ENSP00000398789:S55L	ENSP00000242044:S103L	S	-	2	0	SNX13	17899544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.988000	0.93501	2.699000	0.92147	0.557000	0.71058	TCA	.	.		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
SP4	6671	hgsc.bcm.edu	37	7	21469063	21469063	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:21469063A>G	ENST00000222584.3	+	3	498	c.280A>G	c.(280-282)Aca>Gca	p.T94A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	94					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGAACTGGTAACAACGCAACT	0.428																																					p.T94A		Atlas-SNP	.											.	SP4	91	.	0			c.A280G						.						103.0	89.0	94.0					7																	21469063		2203	4300	6503	SO:0001583	missense	6671	exon3			CTGGTAACAACGC		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.280A>G	chr7.hg19:g.21469063A>G	ENSP00000222584:p.Thr94Ala	105.0	0.0		104.0	5.0	NM_003112	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	hg19	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	7.458	0.644180	0.14451	.	.	ENSG00000105866	ENST00000222584	T	0.08370	3.1	4.46	4.46	0.54185	.	0.051668	0.85682	D	0.000000	T	0.05502	0.0145	N	0.16166	0.38	0.43179	D	0.994991	P	0.38504	0.634	B	0.35607	0.206	T	0.52328	-0.8590	10	0.25106	T	0.35	.	13.9273	0.63970	1.0:0.0:0.0:0.0	.	94	Q02446	SP4_HUMAN	A	94	ENSP00000222584:T94A	ENSP00000222584:T94A	T	+	1	0	SP4	21435588	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.380000	0.73158	1.873000	0.54277	0.533000	0.62120	ACA	.	.		0.428	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
STK31	56164	hgsc.bcm.edu	37	7	23802460	23802460	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:23802460A>G	ENST00000355870.3	+	11	1453	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	STK31_ENST00000433467.2_Missense_Mutation_p.Q445R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q422R|STK31_ENST00000354639.3_Missense_Mutation_p.Q422R	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	445						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATGAAATGCAGCAGAAGCTG	0.338																																					p.Q445R		Atlas-SNP	.											.	STK31	175	.	0			c.A1334G						.						99.0	100.0	100.0					7																	23802460		2203	4296	6499	SO:0001583	missense	56164	exon11			AAATGCAGCAGAA	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1334A>G	chr7.hg19:g.23802460A>G	ENSP00000348132:p.Gln445Arg	164.0	0.0		119.0	5.0	NM_031414	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	8.705	0.910724	0.17833	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.24	3.93	0.45458	.	0.289256	0.34906	N	0.003591	T	0.08670	0.0215	L	0.27053	0.805	0.34106	D	0.662474	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.16897	-1.0387	10	0.17369	T	0.5	-4.1223	8.8496	0.35192	0.8738:0.0:0.1262:0.0	.	445;445	B4DZ06;Q9BXU1	.;STK31_HUMAN	R	445;445;422;422	ENSP00000348132:Q445R;ENSP00000411852:Q445R;ENSP00000346660:Q422R;ENSP00000406146:Q422R	ENSP00000346660:Q422R	Q	+	2	0	STK31	23768985	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.819000	0.48049	2.110000	0.64415	0.477000	0.44152	CAG	.	.		0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
PDE1C	5137	hgsc.bcm.edu	37	7	32338269	32338269	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:32338269T>C	ENST00000396193.1	-	1	672	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCACCTATGGTGAAGCTGTAG	0.632																																					p.T27A		Atlas-SNP	.											.	PDE1C	465	.	0			c.A79G						.						15.0	14.0	14.0					7																	32338269		876	1988	2864	SO:0001583	missense	5137	exon1			CTATGGTGAAGCT	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.79A>G	chr7.hg19:g.32338269T>C	ENSP00000379496:p.Thr27Ala	106.0	0.0		81.0	4.0	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	hg19	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.071599	0.76301	.	.	ENSG00000154678	ENST00000396193	T	0.75704	-0.96	4.14	4.14	0.48551	.	0.348461	0.19143	N	0.121650	T	0.70474	0.3228	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.76000	-0.3119	10	0.87932	D	0	.	12.2823	0.54771	0.0:0.0:0.0:1.0	.	27	E9PE92	.	A	27	ENSP00000379496:T27A	ENSP00000379496:T27A	T	-	1	0	PDE1C	32304794	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.485000	0.66850	1.733000	0.51620	0.459000	0.35465	ACC	.	.		0.632	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1		
DNAJB9	4189	hgsc.bcm.edu	37	7	108212222	108212222	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:108212222A>G	ENST00000249356.3	+	2	598	c.52A>G	c.(52-54)Aca>Gca	p.T18A	THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000438865.1_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	18					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTAATGATAACAGAATTAAT	0.368																																					p.T18A		Atlas-SNP	.											.	DNAJB9	25	.	0			c.A52G						.						74.0	83.0	80.0					7																	108212222		2203	4300	6503	SO:0001583	missense	4189	exon2			ATGATAACAGAAT	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.52A>G	chr7.hg19:g.108212222A>G	ENSP00000249356:p.Thr18Ala	146.0	0.0		98.0	4.0	NM_012328		Missense_Mutation	SNP	ENST00000249356.3	hg19	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446014	0.43429	.	.	ENSG00000128590	ENST00000249356	T	0.60672	0.17	5.19	5.19	0.71726	Heat shock protein DnaJ, N-terminal (2);	0.183045	0.48286	D	0.000188	T	0.27169	0.0666	N	0.01729	-0.75	0.45607	D	0.998545	B	0.19706	0.038	B	0.16289	0.015	T	0.18178	-1.0345	9	.	.	.	.	9.6254	0.39748	0.8443:0.0:0.0:0.1557	.	18	Q9UBS3	DNJB9_HUMAN	A	18	ENSP00000249356:T18A	.	T	+	1	0	DNAJB9	107999458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.518000	0.53451	1.946000	0.56461	0.460000	0.39030	ACA	.	.		0.368	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1		
EXOC4	60412	hgsc.bcm.edu	37	7	133041177	133041177	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr7:133041177T>C	ENST00000253861.4	+	6	886	c.857T>C	c.(856-858)tTg>tCg	p.L286S	EXOC4_ENST00000539845.1_Missense_Mutation_p.L185S|EXOC4_ENST00000393161.2_Missense_Mutation_p.L286S	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	286					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATTAAGGGCTTGGCGAAACTG	0.448																																					p.L286S		Atlas-SNP	.											.	EXOC4	118	.	0			c.T857C						.						86.0	82.0	83.0					7																	133041177		2203	4300	6503	SO:0001583	missense	60412	exon6			AGGGCTTGGCGAA	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.857T>C	chr7.hg19:g.133041177T>C	ENSP00000253861:p.Leu286Ser	109.0	0.0		86.0	4.0	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	hg19	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427511	0.83667	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.80259	0.4590	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.996	T	0.82719	-0.0318	9	0.62326	D	0.03	.	15.9219	0.79583	0.0:0.0:0.0:1.0	.	286;286	Q96A65;Q8TAR2	EXOC4_HUMAN;.	S	286;286;185	.	ENSP00000253861:L286S	L	+	2	0	EXOC4	132691717	1.000000	0.71417	0.988000	0.46212	0.835000	0.47333	7.788000	0.85771	2.218000	0.71995	0.528000	0.53228	TTG	.	.		0.448	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
AGPAT5	55326	hgsc.bcm.edu	37	8	6614716	6614716	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:6614716C>A	ENST00000285518.6	+	8	1214	c.902C>A	c.(901-903)cCa>cAa	p.P301Q		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	301					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.P301L(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TCACCAGATCCAGAAAGAAGA	0.323																																					p.P301Q		Atlas-SNP	.											AGPAT5,NS,carcinoma,0,1	AGPAT5	31	.	1	Substitution - Missense(1)	kidney(1)	c.C902A						.						45.0	46.0	46.0					8																	6614716		2203	4300	6503	SO:0001583	missense	55326	exon8			CAGATCCAGAAAG	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.902C>A	chr8.hg19:g.6614716C>A	ENSP00000285518:p.Pro301Gln	108.0	0.0		48.0	2.0	NM_018361	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	hg19	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.043667|4.043667	0.75732|0.75732	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000285518|ENST00000518327	T|.	0.63255|.	-0.03|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.346377|.	0.34725|.	N|.	0.003723|.	T|T	0.75803|0.75803	0.3899|0.3899	M|M	0.70595|0.70595	2.14|2.14	0.47994|0.47994	D|D	0.999562|0.999562	P|.	0.35745|.	0.518|.	B|.	0.33454|.	0.164|.	T|T	0.73167|0.73167	-0.4068|-0.4068	10|5	0.28530|.	T|.	0.3|.	-10.8366|-10.8366	18.073|18.073	0.89417|0.89417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	301|.	Q9NUQ2|.	PLCE_HUMAN|.	Q|K	301|118	ENSP00000285518:P301Q|.	ENSP00000285518:P301Q|.	P|Q	+|+	2|1	0|0	AGPAT5|AGPAT5	6602124|6602124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.436000|4.436000	0.59948|0.59948	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCA|CAG	.	.		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361	
RP1L1	94137	hgsc.bcm.edu	37	8	10464506	10464506	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:10464506C>T	ENST00000382483.3	-	4	7325	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2448					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCATAACCTTCACTGGCCCCC	0.557																																					p.E2368K		Atlas-SNP	.											.	RP1L1	453	.	0			c.G7102A						.						96.0	101.0	99.0					8																	10464506		1912	4113	6025	SO:0001583	missense	94137	exon4			AACCTTCACTGGC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7102G>A	chr8.hg19:g.10464506C>T	ENSP00000371923:p.Glu2368Lys	96.0	0.0		32.0	25.0	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.958	1.221954	0.22457	.	.	ENSG00000183638	ENST00000382483	T	0.12879	2.64	4.29	-0.977	0.10282	.	.	.	.	.	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.44772	-0.9306	9	0.17369	T	0.5	-0.015	5.0356	0.14432	0.1339:0.5556:0.0:0.3105	.	2368	A6NKC6	.	K	2368	ENSP00000371923:E2368K	ENSP00000371923:E2368K	E	-	1	0	RP1L1	10501916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.316000	0.08690	-1.093000	0.02169	GAA	.	.		0.557	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
MTMR7	9108	hgsc.bcm.edu	37	8	17218727	17218727	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:17218727T>C	ENST00000180173.5	-	4	401	c.367A>G	c.(367-369)Aga>Gga	p.R123G	MTMR7_ENST00000521857.1_Missense_Mutation_p.R123G	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	123					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTTGCTCTCTTTCTTCTTTA	0.423																																					p.R123G		Atlas-SNP	.											.	MTMR7	75	.	0			c.A367G						.						160.0	150.0	153.0					8																	17218727		2203	4300	6503	SO:0001583	missense	9108	exon4			GCTCTCTTTCTTC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.367A>G	chr8.hg19:g.17218727T>C	ENSP00000180173:p.Arg123Gly	251.0	0.0		97.0	4.0	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	hg19	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758324	0.49468	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.92911	-3.13;-3.13	5.48	1.43	0.22495	.	0.048443	0.85682	D	0.000000	D	0.90198	0.6936	M	0.70595	2.14	0.80722	D	1	B	0.15930	0.015	B	0.20184	0.028	D	0.85015	0.0908	10	0.29301	T	0.29	.	14.6641	0.68893	0.0:0.0:0.5633:0.4367	.	123	Q9Y216	MTMR7_HUMAN	G	123	ENSP00000180173:R123G;ENSP00000429733:R123G	ENSP00000180173:R123G	R	-	1	2	MTMR7	17263098	0.999000	0.42202	0.997000	0.53966	0.985000	0.73830	0.393000	0.20817	0.440000	0.26502	0.533000	0.62120	AGA	.	.		0.423	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
GSR	2936	hgsc.bcm.edu	37	8	30537135	30537135	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:30537135A>G	ENST00000221130.5	-	13	1561	c.1471T>C	c.(1471-1473)Ttt>Ctt	p.F491L	GSR_ENST00000546342.1_Missense_Mutation_p.F462L|GSR_ENST00000414019.1_Missense_Mutation_p.F448L|GSR_ENST00000541648.1_Missense_Mutation_p.F438L|GSR_ENST00000537535.1_Missense_Mutation_p.F409L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	491					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GCAACAGCAAAACCCTGCAGC	0.443																																					p.F491L		Atlas-SNP	.											.	GSR	53	.	0			c.T1471C						.						169.0	139.0	149.0					8																	30537135		2203	4300	6503	SO:0001583	missense	2936	exon13			CAGCAAAACCCTG		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1471T>C	chr8.hg19:g.30537135A>G	ENSP00000221130:p.Phe491Leu	319.0	0.0		79.0	4.0	NM_000637	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	hg19	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995070	0.93167	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	5.34	5.34	0.76211	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94458	0.7673	10	0.54805	T	0.06	-6.5594	13.5686	0.61832	1.0:0.0:0.0:0.0	.	491	P00390	GSHR_HUMAN	L	491;448;462;438;409	ENSP00000221130:F491L;ENSP00000390065:F448L;ENSP00000445516:F462L;ENSP00000444559:F438L;ENSP00000438845:F409L	ENSP00000221130:F491L	F	-	1	0	GSR	30656677	1.000000	0.71417	0.992000	0.48379	0.815000	0.46073	8.577000	0.90773	2.160000	0.67779	0.454000	0.30748	TTT	.	.		0.443	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1		
GPR124	25960	hgsc.bcm.edu	37	8	37699046	37699046	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:37699046T>C	ENST00000412232.2	+	19	3203	c.3190T>C	c.(3190-3192)Ttc>Ctc	p.F1064L	GPR124_ENST00000315215.7_Missense_Mutation_p.F847L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1064					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTGGGCCTCTTCGTCTTCAC	0.741																																					p.F1064L		Atlas-SNP	.											.	GPR124	85	.	0			c.T3190C						.						20.0	23.0	22.0					8																	37699046		2202	4297	6499	SO:0001583	missense	25960	exon19			GGCCTCTTCGTCT	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3190T>C	chr8.hg19:g.37699046T>C	ENSP00000406367:p.Phe1064Leu	138.0	0.0		49.0	4.0	NM_032777	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	hg19	CCDS6097.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.03|19.03	3.747715|3.747715	0.69533|0.69533	.|.	.|.	ENSG00000020181|ENSG00000020181	ENST00000315215;ENST00000412232|ENST00000416514	T;T|.	0.60040|.	0.22;0.22|.	5.01|5.01	5.01|5.01	0.66863|0.66863	GPCR, family 2, secretin-like, conserved site (1);|.	0.114571|.	0.64402|.	D|.	0.000012|.	T|T	0.75148|0.75148	0.3810|0.3810	M|M	0.73598|0.73598	2.24|2.24	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.69078|.	0.997;0.997|.	P;D|.	0.75020|.	0.879;0.985|.	T|T	0.79065|0.79065	-0.1956|-0.1956	10|6	0.87932|0.87932	D|D	0|0	-30.5409|-30.5409	14.7311|14.7311	0.69383|0.69383	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	847;1064|.	Q96PE1-2;Q96PE1|.	.;GP124_HUMAN|.	L|P	847;1064|1056	ENSP00000323508:F847L;ENSP00000406367:F1064L|.	ENSP00000323508:F847L|ENSP00000405145:L1056P	F|L	+|+	1|2	0|0	GPR124|GPR124	37818204|37818204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.025000|0.025000	0.11179|0.11179	7.764000|7.764000	0.85297|0.85297	1.882000|1.882000	0.54519|0.54519	0.528000|0.528000	0.53228|0.53228	TTC|CTT	.	.		0.741	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
CHRNA6	8973	hgsc.bcm.edu	37	8	42611479	42611479	+	Missense_Mutation	SNP	A	A	G	rs373608967		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:42611479A>G	ENST00000276410.2	-	5	1218	c.863T>C	c.(862-864)gTc>gCc	p.V288A	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V273A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	288					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TTCTGTGATGACCAGCAAAAA	0.473																																					p.V288A		Atlas-SNP	.											.	CHRNA6	60	.	0			c.T863C						.	A	ALA/VAL,ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	99.0	84.0	90.0		818,863	6.0	1.0	8		90	0,8600		0,0,4300	no	missense,missense	CHRNA6	NM_001199279.1,NM_004198.3	64,64	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	273/480,288/495	42611479	1,13005	2203	4300	6503	SO:0001583	missense	8973	exon5			GTGATGACCAGCA	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.863T>C	chr8.hg19:g.42611479A>G	ENSP00000276410:p.Val288Ala	153.0	0.0		119.0	6.0	NM_004198	B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	hg19	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582810	0.86748	2.27E-4	0.0	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.85702	-2.02;-2.02	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92561	0.7637	M	0.82056	2.57	0.80722	D	1	D;D	0.58620	0.983;0.965	D;D	0.72625	0.978;0.978	D	0.93358	0.6724	10	0.87932	D	0	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	273;288	B4DQH1;Q15825	.;ACHA6_HUMAN	A	288;273	ENSP00000276410:V288A;ENSP00000433871:V273A	ENSP00000276410:V288A	V	-	2	0	CHRNA6	42730636	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	9.253000	0.95501	2.281000	0.76405	0.533000	0.62120	GTC	.	.		0.473	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
RP1	6101	hgsc.bcm.edu	37	8	55542668	55542668	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:55542668T>A	ENST00000220676.1	+	4	6374	c.6226T>A	c.(6226-6228)Ttc>Atc	p.F2076I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2076					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAATAACAGATTCCAGGGCTC	0.358																																					p.F2076I	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											.	RP1	429	.	0			c.T6226A						.						44.0	45.0	45.0					8																	55542668		2202	4297	6499	SO:0001583	missense	6101	exon4			AACAGATTCCAGG	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6226T>A	chr8.hg19:g.55542668T>A	ENSP00000220676:p.Phe2076Ile	89.0	0.0		68.0	24.0	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245740	0.39697	.	.	ENSG00000104237	ENST00000220676	T	0.24151	1.87	5.76	5.76	0.90799	.	0.236869	0.29668	N	0.011509	T	0.29491	0.0735	M	0.62723	1.935	0.09310	N	0.999999	P	0.35077	0.483	B	0.33392	0.163	T	0.32534	-0.9903	10	0.72032	D	0.01	.	14.6387	0.68708	0.0:0.0:0.0:1.0	.	2076	P56715	RP1_HUMAN	I	2076	ENSP00000220676:F2076I	ENSP00000220676:F2076I	F	+	1	0	RP1	55705221	0.574000	0.26684	0.362000	0.25862	0.126000	0.20510	2.402000	0.44521	2.201000	0.70794	0.533000	0.62120	TTC	.	.		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
CHD7	55636	hgsc.bcm.edu	37	8	61757545	61757545	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:61757545A>G	ENST00000423902.2	+	22	5452	c.4973A>G	c.(4972-4974)gAg>gGg	p.E1658G	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1658					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGGGGATGAGAATATCAAA	0.488																																					p.E1658G		Atlas-SNP	.											.	CHD7	534	.	0			c.A4973G						.						143.0	142.0	142.0					8																	61757545		1971	4158	6129	SO:0001583	missense	55636	exon22			GGGATGAGAATAT	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4973A>G	chr8.hg19:g.61757545A>G	ENSP00000392028:p.Glu1658Gly	147.0	0.0		100.0	4.0	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759054	0.89843	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.89343	-2.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	M	0.86178	2.8	0.80722	D	1	B	0.24258	0.1	B	0.36845	0.234	D	0.91025	0.4860	10	0.87932	D	0	-27.3829	16.1412	0.81522	1.0:0.0:0.0:0.0	.	1658	Q9P2D1	CHD7_HUMAN	G	1658	ENSP00000392028:E1658G	ENSP00000307304:E1658G	E	+	2	0	CHD7	61920099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.265000	0.75225	0.533000	0.62120	GAG	.	.		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
PRDM14	63978	hgsc.bcm.edu	37	8	70970987	70970987	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:70970987A>G	ENST00000276594.2	-	6	1475	c.1274T>C	c.(1273-1275)gTg>gCg	p.V425A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	425					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCCTTGTCCACACAGGGGGT	0.463																																					p.V425A	NSCLC(129;99 1813 5906 40656 46114)	Atlas-SNP	.											PRDM14,caecum,carcinoma,0,1	PRDM14	102	.	0			c.T1274C						.						111.0	101.0	104.0					8																	70970987		2203	4300	6503	SO:0001583	missense	63978	exon6			TTGTCCACACAGG	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1274T>C	chr8.hg19:g.70970987A>G	ENSP00000276594:p.Val425Ala	138.0	1.0		124.0	5.0	NM_024504	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	hg19	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883083	0.91740	.	.	ENSG00000147596	ENST00000276594	T	0.11712	2.75	5.73	5.73	0.89815	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01228	-1.1412	10	0.87932	D	0	-26.0735	16.0233	0.80516	1.0:0.0:0.0:0.0	.	425	Q9GZV8	PRD14_HUMAN	A	425	ENSP00000276594:V425A	ENSP00000276594:V425A	V	-	2	0	PRDM14	71133541	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.785000	0.91822	2.186000	0.69663	0.533000	0.62120	GTG	.	.		0.463	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
STMN2	11075	hgsc.bcm.edu	37	8	80553730	80553730	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:80553730A>G	ENST00000220876.7	+	3	615	c.233A>G	c.(232-234)gAc>gGc	p.D78G	STMN2_ENST00000518491.1_Missense_Mutation_p.D67G|STMN2_ENST00000518111.1_Missense_Mutation_p.D78G	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	78	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AAGAAGAAAGACCTGTCCCTG	0.488																																					p.D78G		Atlas-SNP	.											.	STMN2	23	.	0			c.A233G						.						59.0	58.0	58.0					8																	80553730		1889	4125	6014	SO:0001583	missense	11075	exon3			AGAAAGACCTGTC		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.233A>G	chr8.hg19:g.80553730A>G	ENSP00000220876:p.Asp78Gly	149.0	0.0		111.0	5.0	NM_007029	A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	hg19	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015897	0.75161	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.68	4.5	0.54988	.	0.181657	0.64402	D	0.000020	T	0.76919	0.4055	M	0.78916	2.43	0.54753	D	0.999984	D;P	0.65815	0.995;0.902	D;P	0.66716	0.946;0.784	T	0.78219	-0.2289	9	0.59425	D	0.04	-16.4387	12.0053	0.53255	0.8702:0.0:0.0:0.1298	.	78;78	B7Z4K3;Q93045	.;STMN2_HUMAN	G	78;67;78;67	.	ENSP00000220876:D78G	D	+	2	0	STMN2	80716285	1.000000	0.71417	0.921000	0.36526	0.965000	0.64279	9.339000	0.96797	0.939000	0.37446	0.383000	0.25322	GAC	.	.		0.488	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029	
KIAA0196	9897	hgsc.bcm.edu	37	8	126071720	126071720	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:126071720T>C	ENST00000318410.7	-	13	1935	c.1586A>G	c.(1585-1587)aAg>aGg	p.K529R	KIAA0196_ENST00000517845.1_Missense_Mutation_p.K381R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	529					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGAAGAAACTTTCGAGTATC	0.383																																					p.K529R		Atlas-SNP	.											.	KIAA0196	90	.	0			c.A1586G						.						82.0	82.0	82.0					8																	126071720		2203	4300	6503	SO:0001583	missense	9897	exon13			AGAAACTTTCGAG		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1586A>G	chr8.hg19:g.126071720T>C	ENSP00000318016:p.Lys529Arg	81.0	0.0		71.0	4.0	NM_014846	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	hg19	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.39|15.39	2.820659|2.820659	0.50633|0.50633	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86230|.	-2.09;-2.09|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61862|0.61862	0.2381|0.2381	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.18610|.	0.002;0.029|.	B;B|.	0.19666|.	0.007;0.026|.	T|T	0.58086|0.58086	-0.7698|-0.7698	10|5	0.29301|.	T|.	0.29|.	-28.1368|-28.1368	16.2002|16.2002	0.82067|0.82067	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	381;529|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	R|G	529;381|146	ENSP00000318016:K529R;ENSP00000429676:K381R|.	ENSP00000318016:K529R|.	K|S	-|-	2|1	0|0	KIAA0196|KIAA0196	126140902|126140902	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	2.771000|2.771000	0.47670|0.47670	2.285000|2.285000	0.76669|0.76669	0.528000|0.528000	0.53228|0.53228	AAG|AGT	.	.		0.383	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	
TRAPPC9	83696	hgsc.bcm.edu	37	8	141381200	141381200	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:141381200G>A	ENST00000438773.2	-	8	1347	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A503V|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A396V	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	405					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGAAGAACGCAGACTTGCG	0.582																																					p.A503V		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.C1508T						.						59.0	58.0	58.0					8																	141381200		2203	4300	6503	SO:0001583	missense	83696	exon8			AAGAACGCAGACT	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1214C>T	chr8.hg19:g.141381200G>A	ENSP00000405060:p.Ala405Val	93.0	0.0		65.0	21.0	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641101	0.96693	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.65	5.65	0.86999	.	0.100710	0.64402	D	0.000002	T	0.78181	0.4243	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.67103	0.941;0.903;0.949	T	0.79322	-0.1851	9	0.62326	D	0.03	.	17.9129	0.88939	0.0:0.0:1.0:0.0	.	405;396;503	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	V	503;396;405	.	ENSP00000373978:A396V	A	-	2	0	TRAPPC9	141450382	1.000000	0.71417	0.892000	0.35008	0.903000	0.53119	9.330000	0.96422	2.663000	0.90544	0.455000	0.32223	GCG	.	.		0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
SCRIB	23513	hgsc.bcm.edu	37	8	144890960	144890960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:144890960C>T	ENST00000320476.3	-	15	1940	c.1934G>A	c.(1933-1935)tGg>tAg	p.W645*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.W564*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.W645*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	645	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCATTGTGCCAGCCCCCGGG	0.667																																					p.W645X	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											.	SCRIB	192	.	0			c.G1934A						.						50.0	57.0	55.0					8																	144890960		2203	4300	6503	SO:0001587	stop_gained	23513	exon15			TTGTGCCAGCCCC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1934G>A	chr8.hg19:g.144890960C>T	ENSP00000322938:p.Trp645*	63.0	0.0		52.0	11.0	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	39	7.545454	0.98348	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	9.9332	0.41534	0.0:0.9046:0.0:0.0954	.	.	.	.	X	645;645;564;14	.	ENSP00000322938:W645X	W	-	2	0	SCRIB	144962948	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	2.760000	0.47581	2.153000	0.67306	0.401000	0.26515	TGG	.	.		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
EPPK1	83481	hgsc.bcm.edu	37	8	144944289	144944289	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:144944289C>T	ENST00000525985.1	-	2	3204	c.3133G>A	c.(3133-3135)Gcc>Acc	p.A1045T				P58107	EPIPL_HUMAN	epiplakin 1	1045						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTGTGGCCACTTGAGCC	0.597																																					p.A1045T		Atlas-SNP	.											.	EPPK1	199	.	0			c.G3133A						.						30.0	34.0	33.0					8																	144944289		2098	4233	6331	SO:0001583	missense	83481	exon1			CTGTGGCCACTTG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3133G>A	chr8.hg19:g.144944289C>T	ENSP00000436337:p.Ala1045Thr	170.0	0.0		154.0	52.0	NM_031308	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.90	3.501754	0.64298	.	.	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.54	3.61	0.41365	.	.	.	.	.	T	0.81044	0.4741	L	0.50919	1.6	0.37637	D	0.921882	D	0.69078	0.997	D	0.64506	0.926	T	0.79115	-0.1936	9	0.23891	T	0.37	.	10.5803	0.45252	0.2398:0.7602:0.0:0.0	.	1045	E9PPU0	.	T	1045	ENSP00000436337:A1045T	ENSP00000436337:A1045T	A	-	1	0	EPPK1	145016277	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	3.864000	0.56024	1.005000	0.39183	0.563000	0.77884	GCC	.	.		0.597	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
CPSF1	29894	hgsc.bcm.edu	37	8	145619449	145619449	+	Splice_Site	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr8:145619449C>A	ENST00000349769.3	-	33	3905	c.3811G>T	c.(3811-3813)Gtg>Ttg	p.V1271L	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_Intron	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1271					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.V1271L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCCACATACCCAGAAAACCC	0.672																																					p.V1271L	NSCLC(133;1088 1848 27708 34777 35269)	Atlas-SNP	.											CPSF1,NS,carcinoma,0,1	CPSF1	92	.	1	Substitution - Missense(1)	lung(1)	c.G3811T						.						22.0	29.0	26.0					8																	145619449		2171	4258	6429	SO:0001630	splice_region_variant	29894	exon33			ACATACCCAGAAA	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3811+1G>T	chr8.hg19:g.145619449C>A		272.0	0.0		167.0	47.0	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	hg19	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255833	0.59321	.	.	ENSG00000071894	ENST00000349769	T	0.45276	0.9	5.06	5.06	0.68205	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.73372	2.23	0.80722	D	1	B	0.28055	0.199	B	0.42214	0.38	T	0.51076	-0.8751	9	.	.	.	-35.4922	16.2654	0.82577	0.0:1.0:0.0:0.0	.	1271	Q10570	CPSF1_HUMAN	L	1271	ENSP00000339353:V1271L	.	V	-	1	0	CPSF1	145590257	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.284000	0.78650	2.514000	0.84764	0.555000	0.69702	GTG	.	.		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	Missense_Mutation
PLGRKT	55848	hgsc.bcm.edu	37	9	5361763	5361763	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:5361763T>C	ENST00000223864.2	-	4	428	c.207A>G	c.(205-207)acA>acG	p.T69T	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	69					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											CATACCCAGCTGTTAAAGAGA	0.373																																					p.T69T		Atlas-SNP	.											.	.	.	.	0			c.A207G						.						81.0	81.0	81.0					9																	5361763		2203	4300	6503	SO:0001819	synonymous_variant	55848	exon4			CCCAGCTGTTAAA	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.207A>G	chr9.hg19:g.5361763T>C		81.0	0.0		62.0	4.0	NM_018465	B2R6W0|Q9NZ44	Silent	SNP	ENST00000223864.2	hg19	CCDS6463.1																																																																																			.	.		0.373	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465	
ZDHHC21	340481	hgsc.bcm.edu	37	9	14639974	14639974	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:14639974T>C	ENST00000380916.4	-	8	1007	c.541A>G	c.(541-543)Aga>Gga	p.R181G		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	181					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GCTGCTAGTCTCATTATGGCC	0.333																																					p.R181G		Atlas-SNP	.											.	ZDHHC21	22	.	0			c.A541G						.						92.0	96.0	94.0					9																	14639974		2203	4297	6500	SO:0001583	missense	340481	exon8			CTAGTCTCATTAT	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.541A>G	chr9.hg19:g.14639974T>C	ENSP00000370303:p.Arg181Gly	76.0	0.0		61.0	7.0	NM_178566	A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	hg19	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549267	0.65311	.	.	ENSG00000175893	ENST00000380916	T	0.23754	1.89	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	L	0.44542	1.39	0.54753	D	0.99998	D	0.53462	0.96	P	0.61328	0.887	T	0.05599	-1.0875	10	0.36615	T	0.2	-6.1186	11.0856	0.48084	0.0:0.0:0.155:0.845	.	181	Q8IVQ6	ZDH21_HUMAN	G	181	ENSP00000370303:R181G	ENSP00000370303:R181G	R	-	1	2	ZDHHC21	14629974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.047000	0.41269	1.852000	0.53769	0.477000	0.44152	AGA	.	.		0.333	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566	
TMEM8B	51754	hgsc.bcm.edu	37	9	35853674	35853674	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:35853674G>T	ENST00000377991.4	+	14	2271	c.1256G>T	c.(1255-1257)gGc>gTc	p.G419V	TMEM8B_ENST00000377988.2_Missense_Mutation_p.G419V	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	419					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTCATTGCGGGCAGTGTGGGC	0.587																																					p.G419V		Atlas-SNP	.											.	TMEM8B	53	.	0			c.G1256T						.						92.0	93.0	92.0					9																	35853674		1975	4142	6117	SO:0001583	missense	51754	exon13			TTGCGGGCAGTGT	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1256G>T	chr9.hg19:g.35853674G>T	ENSP00000367230:p.Gly419Val	289.0	0.0		182.0	65.0	NM_001042590	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	hg19	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200632	0.79015	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.41400	1.0;1.0	5.49	5.49	0.81192	.	.	.	.	.	T	0.59770	0.2218	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51196	-0.8736	9	0.15066	T	0.55	.	17.9596	0.89081	0.0:0.0:1.0:0.0	.	419	A6NDV4	TMM8B_HUMAN	V	419	ENSP00000367230:G419V;ENSP00000367227:G419V	ENSP00000367227:G419V	G	+	2	0	TMEM8B	35843674	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.635000	0.74295	2.583000	0.87209	0.555000	0.69702	GGC	.	.		0.587	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	
PRUNE2	158471	hgsc.bcm.edu	37	9	79322643	79322643	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:79322643T>C	ENST00000376718.3	-	8	4670	c.4547A>G	c.(4546-4548)aAg>aGg	p.K1516R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.K1157R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1516					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCAGACCCCTTAACGTCAAG	0.443																																					p.K1516R		Atlas-SNP	.											PRUNE2_ENST00000376718,colon,carcinoma,0,1	PRUNE2	331	.	0			c.A4547G						.						54.0	50.0	51.0					9																	79322643		1568	3582	5150	SO:0001583	missense	158471	exon8			GACCCCTTAACGT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4547A>G	chr9.hg19:g.79322643T>C	ENSP00000365908:p.Lys1516Arg	82.0	0.0		65.0	3.0	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	9.083	0.999880	0.19121	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51325	0.72;0.71	5.61	3.21	0.36854	.	1.364110	0.04688	N	0.413663	T	0.45216	0.1331	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.35773	-0.9775	10	0.59425	D	0.04	-3.0491	7.2601	0.26199	0.0:0.0783:0.3563:0.5654	.	1516	Q8WUY3	PRUN2_HUMAN	R	1516;1157;1515	ENSP00000365908:K1516R;ENSP00000397425:K1157R	ENSP00000365908:K1516R	K	-	2	0	PRUNE2	78512463	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	1.113000	0.31184	0.471000	0.27319	0.533000	0.62120	AAG	.	.		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
UBQLN1	29979	hgsc.bcm.edu	37	9	86276838	86276838	+	Missense_Mutation	SNP	A	A	G	rs79530639		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:86276838A>G	ENST00000376395.4	-	11	2157	c.1634T>C	c.(1633-1635)gTc>gCc	p.V545A	UBQLN1_ENST00000257468.7_Missense_Mutation_p.V517A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	545					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTGAAATCTGACTTCTGGATT	0.363																																					p.V545A	Melanoma(186;1284 2073 12755 14558 18426)	Atlas-SNP	.											.	UBQLN1	49	.	0			c.T1634C						.						126.0	123.0	124.0					9																	86276838		2203	4300	6503	SO:0001583	missense	29979	exon11			AATCTGACTTCTG	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1634T>C	chr9.hg19:g.86276838A>G	ENSP00000365576:p.Val545Ala	140.0	0.0		103.0	5.0	NM_013438	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	hg19	CCDS6663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.61|16.61	3.172417|3.172417	0.57584|0.57584	.|.	.|.	ENSG00000135018|ENSG00000135018	ENST00000526134|ENST00000376395;ENST00000257468	.|T;T	.|0.40756	.|1.02;1.02	5.19|5.19	5.19|5.19	0.71726|0.71726	.|UBA-like (1);	.|0.000000	.|0.64402	.|D	.|0.000012	T|T	0.35128|0.35128	0.0921|0.0921	L|L	0.43152|0.43152	1.355|1.355	0.54753|0.54753	D|D	0.99998|0.99998	.|B;B	.|0.27679	.|0.041;0.185	.|B;B	.|0.23419	.|0.036;0.046	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.18710	.|T	.|0.47	.|.	15.4206|15.4206	0.75009|0.75009	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|517;545	.|Q9UMX0-2;Q9UMX0	.|.;UBQL1_HUMAN	P|A	152|545;517	.|ENSP00000365576:V545A;ENSP00000257468:V517A	.|ENSP00000257468:V517A	S|V	-|-	1|2	0|0	UBQLN1|UBQLN1	85466658|85466658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.889000|8.889000	0.92470|0.92470	2.100000|2.100000	0.63781|0.63781	0.472000|0.472000	0.43445|0.43445	TCA|GTC	.	.		0.363	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
NAA35	60560	hgsc.bcm.edu	37	9	88611410	88611410	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:88611410T>C	ENST00000361671.5	+	12	1107	c.974T>C	c.(973-975)aTg>aCg	p.M325T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	325					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGGGAAGAAATGGTGAACTAT	0.343																																					p.M325T		Atlas-SNP	.											.	NAA35	50	.	0			c.T974C						.						62.0	66.0	65.0					9																	88611410		2203	4297	6500	SO:0001583	missense	60560	exon12			AAGAAATGGTGAA	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.974T>C	chr9.hg19:g.88611410T>C	ENSP00000354972:p.Met325Thr	166.0	0.0		90.0	4.0	NM_024635	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	hg19	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	T	9.477	1.097232	0.20552	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.18871	-1.0323	9	0.33141	T	0.24	-14.6319	15.5547	0.76184	0.0:0.0:0.0:1.0	.	325	Q5VZE5	NAA35_HUMAN	T	325	.	ENSP00000354972:M325T	M	+	2	0	NAA35	87801230	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.816000	0.86201	2.144000	0.66660	0.460000	0.39030	ATG	.	.		0.343	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
BICD2	23299	hgsc.bcm.edu	37	9	95481866	95481866	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:95481866T>C	ENST00000375512.3	-	5	1130		c.e5-2		BICD2_ENST00000356884.6_Splice_Site	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)						cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCGCTCCATCTGCAAAGGCAC	0.617																																					.		Atlas-SNP	.											.	BICD2	68	.	0			c.1063-2A>G						.						17.0	17.0	17.0					9																	95481866		2202	4298	6500	SO:0001630	splice_region_variant	23299	exon6			TCCATCTGCAAAG	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1063-2A>G	chr9.hg19:g.95481866T>C		91.0	0.0		56.0	4.0	NM_001003800	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Splice_Site	SNP	ENST00000375512.3	hg19	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965675	0.74131	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8505	0.57855	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BICD2	94521687	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.933000	0.87642	1.987000	0.57996	0.459000	0.35465	.	.	.		0.617	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	Intron
ABCA1	19	hgsc.bcm.edu	37	9	107568697	107568697	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:107568697T>C	ENST00000374736.3	-	31	4683	c.4289A>G	c.(4288-4290)cAg>cGg	p.Q1430R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1430					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTCCCCTGCCTGGCAGGGCGT	0.557																																					p.Q1430R		Atlas-SNP	.											.	ABCA1	244	.	0			c.A4289G						.						95.0	74.0	81.0					9																	107568697		2203	4300	6503	SO:0001583	missense	19	exon31			CCTGCCTGGCAGG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4289A>G	chr9.hg19:g.107568697T>C	ENSP00000363868:p.Gln1430Arg	170.0	0.0		71.0	4.0	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	9.465	1.093997	0.20471	.	.	ENSG00000165029	ENST00000374736	D	0.94613	-3.47	5.75	-7.26	0.01466	.	1.041540	0.07498	N	0.906744	T	0.81273	0.4788	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71364	-0.4615	10	0.16420	T	0.52	.	8.078	0.30729	0.2853:0.0:0.5128:0.2019	.	1430	O95477	ABCA1_HUMAN	R	1430	ENSP00000363868:Q1430R	ENSP00000363868:Q1430R	Q	-	2	0	ABCA1	106608518	0.001000	0.12720	0.146000	0.22360	0.064000	0.16182	0.562000	0.23531	-0.915000	0.03823	-0.445000	0.05633	CAG	.	.		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	hgsc.bcm.edu	37	9	107583711	107583711	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:107583711T>C	ENST00000374736.3	-	20	3299	c.2905A>G	c.(2905-2907)Agc>Ggc	p.S969G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	969	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGGATGGTGCTCATCTCAGAG	0.527																																					p.S969G		Atlas-SNP	.											.	ABCA1	244	.	0			c.A2905G						.						81.0	65.0	70.0					9																	107583711		2203	4300	6503	SO:0001583	missense	19	exon20			TGGTGCTCATCTC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2905A>G	chr9.hg19:g.107583711T>C	ENSP00000363868:p.Ser969Gly	118.0	0.0		87.0	4.0	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582464	0.65992	.	.	ENSG00000165029	ENST00000374736	D	0.93953	-3.32	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.193654	0.64402	D	0.000004	D	0.89054	0.6606	N	0.21448	0.665	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	D	0.85321	0.1084	10	0.59425	D	0.04	.	15.96	0.79923	0.0:0.0:0.0:1.0	.	969	O95477	ABCA1_HUMAN	G	969	ENSP00000363868:S969G	ENSP00000363868:S969G	S	-	1	0	ABCA1	106623532	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.289000	0.72696	2.165000	0.68154	0.460000	0.39030	AGC	.	.		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
CTNNAL1	8727	hgsc.bcm.edu	37	9	111734974	111734974	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:111734974T>C	ENST00000325551.4	-	9	1414	c.1328A>G	c.(1327-1329)cAg>cGg	p.Q443R	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.Q443R	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	443					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCTCTTTCTGTTCAGAGAG	0.343																																					p.Q443R		Atlas-SNP	.											.	CTNNAL1	51	.	0			c.A1328G						.						110.0	113.0	112.0					9																	111734974		2203	4300	6503	SO:0001583	missense	8727	exon9			TCTTTCTGTTCAG	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1328A>G	chr9.hg19:g.111734974T>C	ENSP00000320434:p.Gln443Arg	108.0	0.0		75.0	4.0	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	hg19	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744326	0.69418	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.36157	1.27;1.27	6.17	6.17	0.99709	.	0.049382	0.85682	D	0.000000	T	0.49098	0.1537	M	0.63428	1.95	0.80722	D	1	D;P;D	0.53619	0.961;0.778;0.961	P;P;P	0.54924	0.764;0.452;0.764	T	0.36841	-0.9731	10	0.22706	T	0.39	-11.7007	14.7743	0.69713	0.0:0.0:0.0:1.0	.	443;443;443	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	R	443	ENSP00000363723:Q443R;ENSP00000320434:Q443R	ENSP00000320434:Q443R	Q	-	2	0	CTNNAL1	110774795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.702000	0.68332	2.371000	0.80710	0.533000	0.62120	CAG	.	.		0.343	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
C9orf43	257169	hgsc.bcm.edu	37	9	116187645	116187645	+	Missense_Mutation	SNP	G	G	A	rs527300639|rs371732185		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:116187645G>A	ENST00000288462.4	+	10	1333	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcag	0.547																																					p.R296Q		Atlas-SNP	.											C9orf43,colon,carcinoma,0,1	C9orf43	49	.	0			c.G887A						.						62.0	64.0	63.0					9																	116187645		2203	4300	6503	SO:0001583	missense	257169	exon10			AGCAGCGGCAGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.887G>A	chr9.hg19:g.116187645G>A	ENSP00000288462:p.Arg296Gln	123.0	1.0		65.0	6.0	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	hg19	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.269215	0.01421	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.41758	0.99;0.99	2.74	-2.81	0.05805	.	3.844300	0.00357	N	0.000029	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.14117	-1.0484	10	0.22109	T	0.4	.	8.4134	0.32657	0.3379:0.0:0.6621:0.0	.	296	Q8TAL5	CI043_HUMAN	Q	296	ENSP00000363280:R296Q;ENSP00000288462:R296Q	ENSP00000288462:R296Q	R	+	2	0	C9orf43	115227466	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.501000	0.06398	-0.639000	0.05502	-0.379000	0.06801	CGG	.	.		0.547	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
PSMD5	5711	hgsc.bcm.edu	37	9	123589185	123589185	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:123589185T>C	ENST00000210313.3	-	6	746	c.672A>G	c.(670-672)agA>agG	p.R224R	PSMD5_ENST00000373904.5_Splice_Site_p.R181R|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TACAGGTGGCTCTAAAATGTC	0.338																																					p.R224R		Atlas-SNP	.											.	PSMD5	34	.	0			c.A672G						.						84.0	84.0	84.0					9																	123589185		2203	4300	6503	SO:0001630	splice_region_variant	5711	exon6			GGTGGCTCTAAAA	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.672-1A>G	chr9.hg19:g.123589185T>C		132.0	0.0		75.0	4.0	NM_005047	B4DZM8|Q15045|Q4VXG8	Silent	SNP	ENST00000210313.3	hg19	CCDS6824.1																																																																																			.	.		0.338	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047	Silent
CNTRL	11064	hgsc.bcm.edu	37	9	123857201	123857201	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:123857201A>G	ENST00000373855.1	+	5	644	c.384A>G	c.(382-384)gaA>gaG	p.E128E	CNTRL_ENST00000373865.2_Silent_p.E128E|CNTRL_ENST00000238341.5_Silent_p.E128E			Q7Z7A1	CNTRL_HUMAN	centriolin	128					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTAAACTTGAAGTACTGAATC	0.294																																					p.E128E		Atlas-SNP	.											.	CNTRL	161	.	0			c.A384G						.						76.0	79.0	78.0					9																	123857201		2202	4296	6498	SO:0001819	synonymous_variant	11064	exon3			ACTTGAAGTACTG	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.384A>G	chr9.hg19:g.123857201A>G		102.0	0.0		54.0	4.0	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	hg19	CCDS35118.1																																																																																			.	.		0.294	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
NOTCH1	4851	hgsc.bcm.edu	37	9	139395092	139395092	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:139395092T>C	ENST00000277541.6	-	31	5921	c.5846A>G	c.(5845-5847)gAg>gGg	p.E1949G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1949	HIF1AN-binding. {ECO:0000250}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCGCTGGCCTCCAGCAGGCG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																											p.E1949G		Atlas-SNP	.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	NOTCH1	1980	.	0			c.A5846G						.						88.0	107.0	101.0					9																	139395092		2195	4299	6494	SO:0001583	missense	4851	exon31			CTGGCCTCCAGCA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5846A>G	chr9.hg19:g.139395092T>C	ENSP00000277541:p.Glu1949Gly	201.0	0.0		117.0	5.0	NM_017617	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	32	5.185029	0.94885	.	.	ENSG00000148400	ENST00000277541	T	0.68765	-0.35	4.68	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.051864	0.85682	D	0.000000	T	0.75443	0.3850	M	0.71871	2.18	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.79553	-0.1756	10	0.87932	D	0	.	13.646	0.62281	0.0:0.0:0.0:1.0	.	1949	P46531	NOTC1_HUMAN	G	1949	ENSP00000277541:E1949G	ENSP00000277541:E1949G	E	-	2	0	NOTCH1	138514913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.797000	0.85911	1.881000	0.54492	0.454000	0.30748	GAG	.	.		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
ABCA2	20	hgsc.bcm.edu	37	9	139913717	139913717	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr9:139913717A>G	ENST00000371605.3	-	10	1611	c.1464T>C	c.(1462-1464)taT>taC	p.Y488Y	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.Y489Y|ABCA2_ENST00000265662.5_Silent_p.Y489Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	488					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACCTGGGCATAGTGAGTCA	0.637																																					p.Y519Y		Atlas-SNP	.											.	ABCA2	113	.	0			c.T1557C						.						39.0	46.0	44.0					9																	139913717		2069	4201	6270	SO:0001819	synonymous_variant	20	exon11			CTGGGCATAGTGA	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1464T>C	chr9.hg19:g.139913717A>G		159.0	0.0		84.0	4.0	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	hg19		.	.	.	.	.	.	.	.	.	.	a	10.84	1.464995	0.26335	.	.	ENSG00000107331	ENST00000470535	.	.	.	3.58	-2.81	0.05805	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54820	-0.8236	4	.	.	.	.	11.4306	0.50038	0.5697:0.0:0.4303:0.0	.	.	.	.	R	100	.	.	C	-	1	0	ABCA2	139033538	0.950000	0.32346	0.956000	0.39512	0.992000	0.81027	0.002000	0.13061	-0.412000	0.07519	0.398000	0.26397	TGC	.	.		0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	
CUBN	8029	hgsc.bcm.edu	37	10	16970249	16970249	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:16970249C>T	ENST00000377833.4	-	41	6243	c.6178G>A	c.(6178-6180)Ggg>Agg	p.G2060R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2060	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGATGGGCCCAGGGATCTCT	0.478																																					p.G2060R		Atlas-SNP	.											CUBN,NS,carcinoma,0,1	CUBN	515	.	0			c.G6178A						.						70.0	66.0	67.0					10																	16970249		2203	4300	6503	SO:0001583	missense	8029	exon41			TGGGCCCAGGGAT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6178G>A	chr10.hg19:g.16970249C>T	ENSP00000367064:p.Gly2060Arg	124.0	0.0		75.0	3.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903129	0.52333	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.7	4.8	0.61643	CUB (5);	0.158715	0.29737	N	0.011330	T	0.38134	0.1029	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.14504	-1.0470	10	0.59425	D	0.04	.	14.7134	0.69249	0.0:0.9304:0.0:0.0696	.	2060	O60494	CUBN_HUMAN	R	2060	ENSP00000367064:G2060R	ENSP00000367064:G2060R	G	-	1	0	CUBN	17010255	0.998000	0.40836	0.351000	0.25721	0.011000	0.07611	5.390000	0.66261	1.427000	0.47276	-0.145000	0.13849	GGG	.	.		0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
NEBL	10529	hgsc.bcm.edu	37	10	21134258	21134258	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:21134258T>C	ENST00000377122.4	-	12	1552	c.1156A>G	c.(1156-1158)Agg>Ggg	p.R386G	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	386					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTGATGACCTTCCTTTAATC	0.323																																					p.R386G		Atlas-SNP	.											.	NEBL	199	.	0			c.A1156G						.						127.0	125.0	126.0					10																	21134258		2203	4300	6503	SO:0001583	missense	10529	exon12			ATGACCTTCCTTT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1156A>G	chr10.hg19:g.21134258T>C	ENSP00000366326:p.Arg386Gly	105.0	0.0		74.0	6.0	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	hg19	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897608	0.52121	.	.	ENSG00000078114	ENST00000377122	T	0.04970	3.52	5.99	4.83	0.62350	.	0.341407	0.33772	N	0.004580	T	0.10035	0.0246	M	0.64997	1.995	0.80722	D	1	B	0.26081	0.141	B	0.33121	0.158	T	0.08310	-1.0728	10	0.27785	T	0.31	.	11.0863	0.48089	0.0:0.0:0.1552:0.8448	.	386	O76041	NEBL_HUMAN	G	386	ENSP00000366326:R386G	ENSP00000366326:R386G	R	-	1	2	NEBL	21174264	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	2.757000	0.47557	1.053000	0.40415	0.533000	0.62120	AGG	.	.		0.323	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
KIAA1217	56243	hgsc.bcm.edu	37	10	24834953	24834953	+	Silent	SNP	A	A	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:24834953A>T	ENST00000376454.3	+	21	5562	c.5532A>T	c.(5530-5532)acA>acT	p.T1844T	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.T1250T|KIAA1217_ENST00000376452.3_Silent_p.T1275T|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Silent_p.T1165T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1844	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCCCCAAACAGGACCACCTG	0.493																																					p.T1844T		Atlas-SNP	.											.	KIAA1217	235	.	0			c.A5532T						.						192.0	199.0	197.0					10																	24834953		2203	4300	6503	SO:0001819	synonymous_variant	56243	exon21			CCAAACAGGACCA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5532A>T	chr10.hg19:g.24834953A>T		346.0	0.0		196.0	73.0	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	hg19	CCDS31165.1																																																																																			.	.		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
CDHR1	92211	hgsc.bcm.edu	37	10	85972881	85972881	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:85972881T>C	ENST00000372117.3	+	16	1920	c.1817T>C	c.(1816-1818)cTg>cCg	p.L606P	CDHR1_ENST00000440770.2_Missense_Mutation_p.L310P|CDHR1_ENST00000332904.3_Missense_Mutation_p.L606P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	606	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAACAACCTGGTGGACTAT	0.552																																					p.L606P		Atlas-SNP	.											.	CDHR1	122	.	0			c.T1817C						.						123.0	107.0	113.0					10																	85972881		2203	4300	6503	SO:0001583	missense	92211	exon16			ACAACCTGGTGGA	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1817T>C	chr10.hg19:g.85972881T>C	ENSP00000361189:p.Leu606Pro	143.0	0.0		114.0	5.0	NM_001171971	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120240	0.77323	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.52295	0.67;0.67;0.67	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.257738	0.38897	N	0.001533	T	0.63022	0.2476	M	0.63843	1.955	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;P;D	0.65773	0.93;0.861;0.938	T	0.59984	-0.7351	10	0.29301	T	0.29	-16.2473	14.3318	0.66561	0.0:0.0:0.0:1.0	.	310;606;606	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	P	606;606;310	ENSP00000331063:L606P;ENSP00000361189:L606P;ENSP00000415980:L310P	ENSP00000331063:L606P	L	+	2	0	CDHR1	85962861	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	7.580000	0.82523	2.271000	0.75665	0.533000	0.62120	CTG	.	.		0.552	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
CCSER2	54462	hgsc.bcm.edu	37	10	86131960	86131960	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:86131960T>C	ENST00000224756.8	+	2	1337	c.1152T>C	c.(1150-1152)gaT>gaC	p.D384D	CCSER2_ENST00000359979.4_Silent_p.D384D|CCSER2_ENST00000372088.2_Silent_p.D384D	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	384					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TGAAACATGATGCTAAAATGA	0.353																																					p.D384D		Atlas-SNP	.											.	CCSER2	7	.	0			c.T1152C						.						104.0	100.0	101.0					10																	86131960		2203	4300	6503	SO:0001819	synonymous_variant	54462	exon2			ACATGATGCTAAA		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1152T>C	chr10.hg19:g.86131960T>C		118.0	0.0		98.0	4.0	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	hg19	CCDS31235.1																																																																																			.	.		0.353	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
HELLS	3070	hgsc.bcm.edu	37	10	96354567	96354567	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:96354567G>A	ENST00000348459.5	+	19	2309	c.2204G>A	c.(2203-2205)aGa>aAa	p.R735K	HELLS_ENST00000371332.4_Missense_Mutation_p.R781K|HELLS_ENST00000394045.1_Missense_Mutation_p.R637K|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ATTGTGGAAAGAGCAGCTGCT	0.368																																					p.R735K		Atlas-SNP	.											.	HELLS	63	.	0			c.G2204A						.						107.0	97.0	100.0					10																	96354567		2203	4300	6503	SO:0001583	missense	3070	exon19			TGGAAAGAGCAGC	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2204G>A	chr10.hg19:g.96354567G>A	ENSP00000239027:p.Arg735Lys	102.0	0.0		90.0	5.0	NM_018063		Missense_Mutation	SNP	ENST00000348459.5	hg19	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894364	0.91889	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	5.98	5.98	0.97165	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	L	0.35793	1.09	0.80722	D	1	B;B;P;D;D	0.67145	0.289;0.415;0.712;0.996;0.996	B;B;B;D;P	0.76071	0.12;0.133;0.396;0.987;0.871	D	0.95501	0.8577	10	0.51188	T	0.08	-20.3011	19.4463	0.94849	0.0:0.0:1.0:0.0	.	719;706;605;637;735	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	K	735;637;781;172	ENSP00000239027:R735K;ENSP00000377609:R637K;ENSP00000360383:R781K;ENSP00000360378:R172K	ENSP00000239027:R735K	R	+	2	0	HELLS	96344557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.684000	0.74538	2.835000	0.97688	0.650000	0.86243	AGA	.	.		0.368	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
SMNDC1	10285	hgsc.bcm.edu	37	10	112063340	112063340	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:112063340T>C	ENST00000369603.5	-	2	209	c.6A>G	c.(4-6)tcA>tcG	p.S2S	SMNDC1_ENST00000471297.1_5'UTR|SMNDC1_ENST00000369592.1_Silent_p.S2S	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	2					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		CTAAATCCTCTGACATCTAGG	0.383																																					p.S2S		Atlas-SNP	.											.	SMNDC1	9	.	0			c.A6G						.						63.0	64.0	64.0					10																	112063340		2203	4300	6503	SO:0001819	synonymous_variant	10285	exon2			ATCCTCTGACATC	AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"""Tudor domain containing"""	16900	protein-coding gene	gene with protein product	"""splicing factor 30, survival of motor neuron-related"", ""tudor domain containing 16C"""	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.6A>G	chr10.hg19:g.112063340T>C		85.0	0.0		69.0	4.0	NM_005871	B2RA27|D3DRB1|Q5T3K6	Silent	SNP	ENST00000369603.5	hg19	CCDS7565.1																																																																																			.	.		0.383	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050325.2	NM_005871	
ATRNL1	26033	hgsc.bcm.edu	37	10	116931103	116931103	+	Intron	SNP	A	A	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:116931103A>T	ENST00000355044.3	+	8	1474				ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTTTTCTCTAATAAAATCTT	0.239																																					p.L467L		Atlas-SNP	.											.	ATRNL1	219	.	0			c.A1401T						.																																			SO:0001627	intron_variant	26033	exon8			TTCTCTAATAAAA	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1348+53A>T	chr10.hg19:g.116931103A>T		90.0	0.0		81.0	7.0	NM_001276282	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	hg19	CCDS7592.1																																																																																			.	.		0.239	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
KNDC1	85442	hgsc.bcm.edu	37	10	135012267	135012267	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr10:135012267G>A	ENST00000304613.3	+	14	2276	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R752H|KNDC1_ENST00000368571.2_Missense_Mutation_p.R687H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	752	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAGTGCAGCGTGACTCAGCC	0.746																																					p.R752H		Atlas-SNP	.											.	KNDC1	155	.	0			c.G2255A						.						6.0	9.0	8.0					10																	135012267		2118	4187	6305	SO:0001583	missense	85442	exon14			TGCAGCGTGACTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2255G>A	chr10.hg19:g.135012267G>A	ENSP00000304437:p.Arg752His	37.0	0.0		43.0	13.0	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207072	0.39003	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.19532	2.66;2.66;2.14	3.11	-2.94	0.05581	.	15.918900	0.00639	U	0.000517	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.007;0.006;0.003	B;B;B	0.06405	0.002;0.001;0.001	T	0.13845	-1.0494	10	0.14656	T	0.56	0.1441	4.1452	0.10212	0.3653:0.3857:0.2491:0.0	.	752;687;752	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	H	752;752;687	ENSP00000304437:R752H;ENSP00000357561:R752H;ENSP00000357560:R687H	ENSP00000304437:R752H	R	+	2	0	KNDC1	134862257	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.305000	0.08188	-0.654000	0.05394	0.306000	0.20318	CGT	.	.		0.746	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
MUC5B	727897	hgsc.bcm.edu	37	11	1256342	1256342	+	Silent	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:1256342C>T	ENST00000529681.1	+	22	2716	c.2658C>T	c.(2656-2658)tgC>tgT	p.C886C	MUC5B_ENST00000447027.1_Silent_p.C889C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	886	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		GGTGGGAGTGCAGCCACCGGC	0.652																																					p.C886C		Atlas-SNP	.											.	MUC5B	473	.	0			c.C2658T						.						41.0	49.0	47.0					11																	1256342		2099	4219	6318	SO:0001819	synonymous_variant	727897	exon22			GGAGTGCAGCCAC	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.2658C>T	chr11.hg19:g.1256342C>T		137.0	0.0		100.0	48.0	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	hg19	CCDS44515.2																																																																																			.	.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
RRM1	6240	hgsc.bcm.edu	37	11	4142990	4142990	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:4142990A>T	ENST00000300738.5	+	10	1237	c.1033A>T	c.(1033-1035)Aat>Tat	p.N345Y	RRM1_ENST00000534285.1_Missense_Mutation_p.N123Y|RRM1_ENST00000423050.2_Missense_Mutation_p.N248Y|RRM1_ENST00000537197.1_Missense_Mutation_p.N7Y|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	345					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGTGGAGACTAATCAGGTGAG	0.408																																					p.N345Y	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	Atlas-SNP	.											.	RRM1	31	.	0			c.A1033T						.						95.0	101.0	99.0					11																	4142990		2201	4298	6499	SO:0001583	missense	6240	exon10			GAGACTAATCAGG	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1033A>T	chr11.hg19:g.4142990A>T	ENSP00000300738:p.Asn345Tyr	209.0	0.0		101.0	42.0	NM_001033	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	hg19	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631683	0.87660	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.4	5.4	0.78164	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	H	0.97131	3.945	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	D	0.84232	0.0467	10	0.87932	D	0	-21.6001	14.6003	0.68435	1.0:0.0:0.0:0.0	.	345	P23921	RIR1_HUMAN	Y	345;248;258;123;123;7	ENSP00000300738:N345Y;ENSP00000390539:N248Y;ENSP00000431464:N123Y;ENSP00000442148:N7Y	ENSP00000300738:N345Y	N	+	1	0	RRM1	4099566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.030000	0.59900	0.528000	0.53228	AAT	.	.		0.408	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	
UBQLN3	50613	hgsc.bcm.edu	37	11	5528949	5528949	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:5528949C>G	ENST00000311659.4	-	2	1987	c.1840G>C	c.(1840-1842)Gct>Cct	p.A614P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	614	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGAGCCTCAGGCTGC	0.562																																					p.A614P	Ovarian(72;684 1260 12332 41642 52180)	Atlas-SNP	.											.	UBQLN3	107	.	0			c.G1840C						.						59.0	64.0	62.0					11																	5528949		2201	4297	6498	SO:0001583	missense	50613	exon2			AGTGAGCCTCAGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1840G>C	chr11.hg19:g.5528949C>G	ENSP00000347997:p.Ala614Pro	126.0	0.0		70.0	29.0	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964841	0.53507	.	.	ENSG00000175520	ENST00000311659	T	0.40476	1.03	5.14	-0.928	0.10448	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.274307	0.25845	N	0.027932	T	0.31231	0.0790	L	0.50333	1.59	0.28172	N	0.928542	P	0.46395	0.877	B	0.38562	0.276	T	0.31223	-0.9951	10	0.72032	D	0.01	-1.2028	9.3221	0.37971	0.0:0.5256:0.0:0.4744	.	614	Q9H347	UBQL3_HUMAN	P	614	ENSP00000347997:A614P	ENSP00000347997:A614P	A	-	1	0	UBQLN3	5485525	0.990000	0.36364	0.683000	0.30040	0.969000	0.65631	1.652000	0.37313	-0.193000	0.10415	-0.136000	0.14681	GCT	.	.		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
SMPD1	6609	hgsc.bcm.edu	37	11	6411941	6411942	+	Missense_Mutation	DNP	CG	CG	GC	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:6411941_6411942CG>GC	ENST00000342245.4	+	1	281_282	c.113_114CG>GC	c.(112-114)gCG>gGC	p.A38G	SMPD1_ENST00000527275.1_Missense_Mutation_p.A38G|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38G|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38G|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ctggtgctggcgctggcgctgg	0.708																																					p.A38G|p.A38A		Atlas-SNP	.											.	SMPD1	108	.	0			c.C113G|c.G114C						.																																			SO:0001583	missense	6609	exon1			TGCTGGCGCTGGC|GCTGGCGCTGGCG	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	Exception_encountered	chr11.hg19:g.6411941_6411942delinsGC	ENSP00000340409:p.Ala38Gly	0.0	0.0		19.0	7.0	NM_000543	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation|Silent	SNP	ENST00000342245.4	hg19	CCDS44531.1																																																																																			.	.		0.708	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543	
CYB5R2	51700	hgsc.bcm.edu	37	11	7687733	7687733	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:7687733T>C	ENST00000533558.1	-	8	1163	c.607A>G	c.(607-609)Act>Gct	p.T203A	CYB5R2_ENST00000299497.9_Missense_Mutation_p.T203A|CYB5R2_ENST00000299498.6_Missense_Mutation_p.T203A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.T203A|CYB5R2_ENST00000528585.1_Intron			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	203					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGGGTGAGTCCTGGCAATT	0.517											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T203A		Atlas-SNP	.											.	CYB5R2	23	.	0			c.A607G						.						178.0	157.0	164.0					11																	7687733		2201	4296	6497	SO:0001583	missense	51700	exon8			GGTGAGTCCTGGC	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.607A>G	chr11.hg19:g.7687733T>C	ENSP00000437041:p.Thr203Ala	168.0	0.0	643	81.0	4.0	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	hg19	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	T	3.364	-0.129798	0.06753	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.79	3.49	0.39957	Oxidoreductase FAD/NAD(P)-binding (1);	0.372921	0.32081	N	0.006610	T	0.60958	0.2309	N	0.01751	-0.74	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.50224	-0.8853	10	0.19590	T	0.45	-2.9356	6.7876	0.23682	0.0:0.0793:0.1546:0.7661	.	203	Q6BCY4	NB5R2_HUMAN	A	203	ENSP00000435916:T203A;ENSP00000299498:T203A;ENSP00000437041:T203A;ENSP00000299497:T203A	ENSP00000299497:T203A	T	-	1	0	CYB5R2	7644309	0.029000	0.19370	0.002000	0.10522	0.499000	0.33736	1.442000	0.35046	1.007000	0.39238	0.533000	0.62120	ACT	.	.		0.517	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	
ZNF143	7702	hgsc.bcm.edu	37	11	9546829	9546829	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:9546829T>C	ENST00000396602.2	+	15	1848	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	ZNF143_ENST00000396604.1_Missense_Mutation_p.S576P|ZNF143_ENST00000530463.1_Missense_Mutation_p.S576P|ZNF143_ENST00000396597.3_Missense_Mutation_p.S546P|ZNF143_ENST00000299606.2_Missense_Mutation_p.S549P	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	577					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCATACTGCCTCATCAGAAAT	0.428																																					p.S577P		Atlas-SNP	.											.	ZNF143	38	.	0			c.T1729C						.						189.0	157.0	168.0					11																	9546829		2201	4294	6495	SO:0001583	missense	7702	exon15			ACTGCCTCATCAG	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1729T>C	chr11.hg19:g.9546829T>C	ENSP00000379847:p.Ser577Pro	155.0	0.0		83.0	5.0	NM_003442	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	hg19	CCDS7799.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.627818|3.627818	0.66901|0.66901	.|.	.|.	ENSG00000166478|ENSG00000166478	ENST00000447186|ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	.|T;T;T;T;T	.|0.10573	.|2.86;2.87;2.86;2.88;2.89	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.095556	.|0.46442	.|D	.|0.000298	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.08118|0.08118	0|0	0.42671|0.42671	D|D	0.993519|0.993519	.|P;P;P	.|0.40476	.|0.718;0.596;0.596	.|B;B;B	.|0.43658	.|0.426;0.245;0.245	T|T	0.45644|0.45644	-0.9247|-0.9247	5|10	.|0.33940	.|T	.|0.23	.|.	11.8455|11.8455	0.52381|0.52381	0.0:0.0:0.146:0.854|0.0:0.0:0.146:0.854	.|.	.|546;576;577	.|P52747-2;E7ER34;P52747	.|.;.;ZN143_HUMAN	P|P	102|576;577;576;546;549	.|ENSP00000379849:S576P;ENSP00000379847:S577P;ENSP00000432154:S576P;ENSP00000379843:S546P;ENSP00000299606:S549P	.|ENSP00000299606:S549P	L|S	+|+	2|1	0|0	ZNF143|ZNF143	9503405|9503405	0.991000|0.991000	0.36638|0.36638	0.990000|0.990000	0.47175|0.47175	0.999000|0.999000	0.98932|0.98932	2.461000|2.461000	0.45040|0.45040	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	CTC|TCA	.	.		0.428	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442	
MICAL2	9645	hgsc.bcm.edu	37	11	12183895	12183895	+	Silent	SNP	C	C	T	rs368678535		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:12183895C>T	ENST00000256194.4	+	3	481	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	MICAL2_ENST00000379612.3_Silent_p.L65L|MICAL2_ENST00000527546.1_Silent_p.L65L|MICAL2_ENST00000342902.5_Silent_p.L65L|MICAL2_ENST00000537344.1_Silent_p.L65L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	65	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCCAAAGCCCTGTGGTACAA	0.493																																					p.L65L		Atlas-SNP	.											.	MICAL2	114	.	0			c.C193T						.						66.0	64.0	65.0					11																	12183895		2201	4294	6495	SO:0001819	synonymous_variant	9645	exon3			AAAGCCCTGTGGT	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.193C>T	chr11.hg19:g.12183895C>T		161.0	0.0		89.0	4.0	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	hg19	CCDS7809.1																																																																																			.	.		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
TRAF6	7189	hgsc.bcm.edu	37	11	36520043	36520043	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:36520043A>G	ENST00000526995.1	-	3	690	c.444T>C	c.(442-444)ctT>ctC	p.L148L	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Silent_p.L148L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	148	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TTAATACCTCAAGATGTCTCA	0.378																																					p.L148L		Atlas-SNP	.											.	TRAF6	56	.	0			c.T444C						.						105.0	101.0	102.0					11																	36520043		2202	4298	6500	SO:0001819	synonymous_variant	7189	exon3			TACCTCAAGATGT		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.444T>C	chr11.hg19:g.36520043A>G		125.0	0.0		88.0	4.0	NM_004620	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	hg19	CCDS7901.1																																																																																			.	.		0.378	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	
PHF21A	51317	hgsc.bcm.edu	37	11	45991402	45991402	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:45991402A>G	ENST00000418153.2	-	8	862	c.663T>C	c.(661-663)ccT>ccC	p.P221P	PHF21A_ENST00000323180.6_Silent_p.P222P|PHF21A_ENST00000257821.4_Silent_p.P222P			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	221					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGAGTCTAGGAGGGGGGATAA	0.438																																					p.P222P		Atlas-SNP	.											.	PHF21A	107	.	0			c.T666C						.						101.0	90.0	93.0					11																	45991402		2202	4299	6501	SO:0001819	synonymous_variant	51317	exon8			TCTAGGAGGGGGG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.663T>C	chr11.hg19:g.45991402A>G		182.0	0.0		122.0	5.0	NM_016621	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	hg19	CCDS44578.1																																																																																			.	.		0.438	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
LRP4	4038	hgsc.bcm.edu	37	11	46890579	46890579	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:46890579T>C	ENST00000378623.1	-	32	5039	c.4797A>G	c.(4795-4797)ggA>ggG	p.G1599G	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1599					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TATCCATGAGTCCTTCCACAT	0.542																																					p.G1599G		Atlas-SNP	.											.	LRP4	160	.	0			c.A4797G						.						265.0	217.0	233.0					11																	46890579		2201	4299	6500	SO:0001819	synonymous_variant	4038	exon32			CATGAGTCCTTCC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4797A>G	chr11.hg19:g.46890579T>C		255.0	0.0		164.0	7.0	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	hg19	CCDS31478.1																																																																																			.	.		0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
DDB2	1643	hgsc.bcm.edu	37	11	47238448	47238448	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:47238448C>T	ENST00000256996.4	+	3	499	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	DDB2_ENST00000378601.3_Missense_Mutation_p.R102W|DDB2_ENST00000378600.3_Missense_Mutation_p.R102W|DDB2_ENST00000378603.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	102					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGATTCTTACCGGATATTACA	0.512			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R102W		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	DDB2	31	.	0			c.C304T						.						50.0	51.0	51.0					11																	47238448		2201	4298	6499	SO:0001583	missense	1643	exon3	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TCTTACCGGATAT		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.304C>T	chr11.hg19:g.47238448C>T	ENSP00000256996:p.Arg102Trp	121.0	0.0		78.0	4.0	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	hg19	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042384	0.75732	.	.	ENSG00000134574	ENST00000256996;ENST00000378600;ENST00000378601	T;T;T	0.73258	-0.73;-0.15;1.5	5.78	4.87	0.63330	.	0.370611	0.31709	N	0.007182	T	0.59252	0.2180	L	0.48642	1.525	0.37882	D	0.930413	B;B;B	0.29037	0.231;0.231;0.025	B;B;B	0.19666	0.026;0.026;0.001	T	0.63637	-0.6592	10	0.72032	D	0.01	-12.6168	6.7623	0.23548	0.1439:0.7092:0.0:0.1469	.	102;102;102	Q92466-3;Q92466-2;Q92466	.;.;DDB2_HUMAN	W	102	ENSP00000256996:R102W;ENSP00000367863:R102W;ENSP00000367864:R102W	ENSP00000256996:R102W	R	+	1	2	DDB2	47195024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.854000	0.39368	1.450000	0.47717	0.655000	0.94253	CGG	.	.		0.512	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
PATL1	219988	hgsc.bcm.edu	37	11	59423450	59423450	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:59423450T>C	ENST00000300146.9	-	7	876	c.792A>G	c.(790-792)gcA>gcG	p.A264A		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	264	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CAAGAAGCTGTGCTCTCTGGA	0.428																																					p.A264A		Atlas-SNP	.											.	PATL1	92	.	0			c.A792G						.						13.0	14.0	14.0					11																	59423450		1835	4072	5907	SO:0001819	synonymous_variant	219988	exon7			AAGCTGTGCTCTC	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.792A>G	chr11.hg19:g.59423450T>C		189.0	0.0		116.0	5.0	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	hg19	CCDS44613.1																																																																																			.	.		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	
TMEM138	51524	hgsc.bcm.edu	37	11	61136089	61136089	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:61136089T>C	ENST00000278826.6	+	5	956	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	TMEM138_ENST00000381787.2_Missense_Mutation_p.F75L	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	133					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GTACTGCTACTTCTATAAACG	0.517																																					p.F133L		Atlas-SNP	.											.	TMEM138	16	.	0			c.T397C						.						112.0	91.0	98.0					11																	61136089		2203	4299	6502	SO:0001583	missense	51524	exon5			TGCTACTTCTATA	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.397T>C	chr11.hg19:g.61136089T>C	ENSP00000278826:p.Phe133Leu	184.0	0.0		96.0	4.0	NM_016464	A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	hg19	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218122	0.39201	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.87887	-2.31;-2.31	5.82	5.82	0.92795	.	0.171309	0.53938	D	0.000048	T	0.79741	0.4498	N	0.21583	0.68	0.47374	D	0.999405	B	0.11235	0.004	B	0.11329	0.006	T	0.73886	-0.3841	10	0.21540	T	0.41	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	133	Q9NPI0	TM138_HUMAN	L	133;75	ENSP00000278826:F133L;ENSP00000371206:F75L	ENSP00000278826:F133L	F	+	1	0	TMEM138	60892665	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.555000	0.60767	2.225000	0.72522	0.459000	0.35465	TTC	.	.		0.517	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464	
BSCL2	26580	hgsc.bcm.edu	37	11	62458612	62458612	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:62458612A>G	ENST00000403550.1	-	8	1238	c.815T>C	c.(814-816)gTt>gCt	p.V272A	BSCL2_ENST00000278893.7_Splice_Site_p.L225L|BSCL2_ENST00000433053.1_Splice_Site_p.V336A|BSCL2_ENST00000421906.1_Splice_Site_p.V272A|BSCL2_ENST00000407022.3_Splice_Site_p.V272A|BSCL2_ENST00000360796.5_Splice_Site_p.V336A|BSCL2_ENST00000405837.1_Splice_Site_p.V336A|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|LRRN4CL_ENST00000317449.4_5'Flank			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	272					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCGGATGTTAACCTGTGGAGG	0.517																																					p.V336A		Atlas-SNP	.											.	BSCL2	35	.	0			c.T1007C						.						84.0	75.0	78.0					11																	62458612		2202	4299	6501	SO:0001630	splice_region_variant	26580	exon8			ATGTTAACCTGTG		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.814-1T>C	chr11.hg19:g.62458612A>G		154.0	0.0		98.0	5.0	NM_001122955	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	hg19	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293725	0.60086	.	.	ENSG00000168000	ENST00000449636;ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906	D;D;D;D;D;D	0.89123	-2.42;-2.47;-2.47;-2.43;-2.43;-2.43	5.01	0.137	0.14787	.	0.188915	0.33875	U	0.004479	T	0.78470	0.4288	.	.	.	0.20196	N	0.999928	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.003;0.006;0.003	T	0.62426	-0.6857	9	0.27082	T	0.32	4.7959	7.1629	0.25675	0.6122:0.0:0.3878:0.0	.	272;336;272	Q53EN3;G3XAE4;Q96G97	.;.;BSCL2_HUMAN	A	21;336;336;336;272;272;272	ENSP00000385332:V336A;ENSP00000414002:V336A;ENSP00000354032:V336A;ENSP00000385561:V272A;ENSP00000384080:V272A;ENSP00000413209:V272A	ENSP00000354032:V336A	V	-	2	0	BSCL2	62215188	0.892000	0.30473	0.905000	0.35620	0.823000	0.46562	0.802000	0.27069	-0.005000	0.14395	0.402000	0.26972	GTT	.	.		0.517	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667	Missense_Mutation
ZBTB3	79842	hgsc.bcm.edu	37	11	62521471	62521471	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:62521471T>C	ENST00000394807.3	-	1	189	c.64A>G	c.(64-66)Aga>Gga	p.R22G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	22					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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGTAGAGATCTTTTTCGCTCC	0.622																																					p.R22G		Atlas-SNP	.											.	ZBTB3	47	.	0			c.A64G						.						99.0	88.0	91.0					11																	62521471		2202	4299	6501	SO:0001583	missense	79842	exon1			GAGATCTTTTTCG	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.64A>G	chr11.hg19:g.62521471T>C	ENSP00000378286:p.Arg22Gly	145.0	0.0		89.0	4.0	NM_024784		Missense_Mutation	SNP	ENST00000394807.3	hg19	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	T	7.517	0.655918	0.14580	.	.	ENSG00000185670	ENST00000394807	T	0.11712	2.75	5.65	4.49	0.54785	.	0.699662	0.12304	N	0.480815	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22417	-1.0217	10	0.32370	T	0.25	.	10.1327	0.42689	0.0:0.0802:0.0:0.9198	.	22	Q9H5J0	ZBTB3_HUMAN	G	22	ENSP00000378286:R22G	ENSP00000378286:R22G	R	-	1	2	ZBTB3	62278047	0.007000	0.16637	0.349000	0.25694	0.005000	0.04900	0.819000	0.27308	2.371000	0.80710	0.533000	0.62120	AGA	.	.		0.622	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784	
STX5	6811	hgsc.bcm.edu	37	11	62592977	62592977	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:62592977A>G	ENST00000294179.3	-	6	611	c.458T>C	c.(457-459)cTc>cCc	p.L153P	STX5_ENST00000541317.1_Missense_Mutation_p.L57P|STX5_ENST00000394690.1_Missense_Mutation_p.L99P|STX5_ENST00000377897.4_Missense_Mutation_p.L153P	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	153					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATCCTGGAGCTGAGCAAT	0.517																																					p.L153P		Atlas-SNP	.											.	STX5	42	.	0			c.T458C						.						112.0	113.0	113.0					11																	62592977		2201	4299	6500	SO:0001583	missense	6811	exon6			TCCTGGAGCTGAG	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.458T>C	chr11.hg19:g.62592977A>G	ENSP00000294179:p.Leu153Pro	182.0	0.0		118.0	5.0	NM_003164	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	hg19	CCDS8038.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181167|4.181167	0.78677|0.78677	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78|.	5.28|5.28	5.28|5.28	0.74379|0.74379	t-SNARE (1);Syntaxin, N-terminal (1);|.	0.062051|.	0.64402|.	D|.	0.000003|.	T|T	0.81894|0.81894	0.4919|0.4919	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	D|D	0.86173|0.86173	0.1601|0.1601	10|5	0.87932|.	D|.	0|.	-0.4057|-0.4057	13.2122|13.2122	0.59832|0.59832	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	153;153|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	P|P	153;153;99;57|8	ENSP00000367129:L153P;ENSP00000294179:L153P;ENSP00000378182:L99P;ENSP00000441428:L57P|.	ENSP00000294179:L153P|.	L|S	-|-	2|1	0|0	STX5|STX5	62349553|62349553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	8.718000|8.718000	0.91430|0.91430	2.227000|2.227000	0.72691|0.72691	0.460000|0.460000	0.39030|0.39030	CTC|TCC	.	.		0.517	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164	
WDR74	54663	hgsc.bcm.edu	37	11	62600449	62600449	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:62600449T>C	ENST00000525239.1	-	12	1670	c.1133A>G	c.(1132-1134)aAg>aGg	p.K378R	STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000525752.1_Missense_Mutation_p.K321R|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000278856.4_Missense_Mutation_p.K378R|STX5_ENST00000394690.1_5'Flank|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.K359R|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.K378R			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	378					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CCCAGGCCGCTTCTTCTTTCT	0.567																																					p.K378R		Atlas-SNP	.											WDR74_ENST00000525239,NS,carcinoma,0,2	WDR74	36	.	0			c.A1133G						.						53.0	58.0	57.0					11																	62600449		1861	4093	5954	SO:0001583	missense	54663	exon12			GGCCGCTTCTTCT		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.1133A>G	chr11.hg19:g.62600449T>C	ENSP00000432119:p.Lys378Arg	79.0	0.0		49.0	2.0	NM_018093	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	hg19	CCDS44630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.284|3.284	-0.146432|-0.146432	0.06627|0.06627	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752|ENST00000536401	T|.	0.44881|.	0.91|.	4.27|4.27	3.14|3.14	0.36123|0.36123	.|.	0.603866|.	0.14738|.	N|.	0.301368|.	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.09377|.	0.001;0.001;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.33940|.	T|.	0.23|.	-17.4921|-17.4921	6.3872|6.3872	0.21568|0.21568	0.0:0.1133:0.0:0.8867|0.0:0.1133:0.0:0.8867	.|.	321;378;359|.	E9PS41;Q6RFH5;Q6RFH5-2|.	.;WDR74_HUMAN;.|.	R|G	359;378;378;378;321|31	ENSP00000432113:K321R|.	ENSP00000278856:K378R|.	K|S	-|-	2|1	0|0	WDR74|WDR74	62357025|62357025	0.974000|0.974000	0.33945|0.33945	0.008000|0.008000	0.14137|0.14137	0.017000|0.017000	0.09413|0.09413	2.105000|2.105000	0.41825|0.41825	0.781000|0.781000	0.33589|0.33589	0.533000|0.533000	0.62120|0.62120	AAG|AGC	.	.		0.567	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	
PYGM	5837	hgsc.bcm.edu	37	11	64527357	64527357	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:64527357A>G	ENST00000164139.3	-	1	412	c.14T>C	c.(13-15)cTg>cCg	p.L5P	PYGM_ENST00000377432.3_Missense_Mutation_p.L5P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	5					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGGTCTGACAGGGGCCGGGA	0.612																																					p.L5P		Atlas-SNP	.											.	PYGM	77	.	0			c.T14C	GRCh37	CD066398	PYGM	D		.						82.0	81.0	81.0					11																	64527357		2201	4297	6498	SO:0001583	missense	5837	exon1			TCTGACAGGGGCC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.14T>C	chr11.hg19:g.64527357A>G	ENSP00000164139:p.Leu5Pro	127.0	0.0		81.0	4.0	NM_001164716	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	hg19	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729408	0.69074	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94537	-3.2;-3.45	5.41	5.41	0.78517	.	0.144353	0.32055	N	0.006651	D	0.95981	0.8691	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.013	P;B	0.60789	0.879;0.021	D	0.96092	0.9062	10	0.62326	D	0.03	-17.9796	13.3929	0.60834	1.0:0.0:0.0:0.0	.	5;5	A6NDY6;P11217	.;PYGM_HUMAN	P	5	ENSP00000366650:L5P;ENSP00000164139:L5P	ENSP00000164139:L5P	L	-	2	0	PYGM	64283933	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.954000	0.93051	2.071000	0.62044	0.533000	0.62120	CTG	.	.		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
CAPN1	823	hgsc.bcm.edu	37	11	64977873	64977873	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:64977873T>C	ENST00000527323.1	+	19	2249	c.2009T>C	c.(2008-2010)gTc>gCc	p.V670A	CAPN1_ENST00000533129.1_Missense_Mutation_p.V670A|CAPN1_ENST00000524773.1_Missense_Mutation_p.V670A|CAPN1_ENST00000533820.1_Missense_Mutation_p.V670A|CAPN1_ENST00000279247.6_Missense_Mutation_p.V670A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	670	Domain IV.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GACCTGGCGGTCGACTTTGAC	0.587																																					p.V670A		Atlas-SNP	.											.	CAPN1	44	.	0			c.T2009C						.						55.0	58.0	57.0					11																	64977873		2010	4182	6192	SO:0001583	missense	823	exon20			TGGCGGTCGACTT	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.2009T>C	chr11.hg19:g.64977873T>C	ENSP00000431984:p.Val670Ala	142.0	0.0		75.0	5.0	NM_001198869	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	hg19	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569576	0.65765	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.21	4.21	0.49690	EF-hand-like domain (1);	0.067866	0.64402	D	0.000015	T	0.43299	0.1241	M	0.79805	2.47	0.58432	D	0.999999	P	0.35527	0.507	B	0.37888	0.26	T	0.51919	-0.8644	10	0.87932	D	0	.	11.5655	0.50802	0.0:0.0:0.0:1.0	.	670	P07384	CAN1_HUMAN	A	670;670;670;670;616;670	ENSP00000435272:V670A;ENSP00000431686:V670A;ENSP00000434176:V670A;ENSP00000279247:V670A;ENSP00000431984:V670A	ENSP00000259755:V616A	V	+	2	0	CAPN1	64734449	0.971000	0.33674	0.989000	0.46669	0.751000	0.42716	7.682000	0.84083	1.701000	0.51217	0.460000	0.39030	GTC	.	.		0.587	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
EHBP1L1	254102	hgsc.bcm.edu	37	11	65350029	65350029	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:65350029A>G	ENST00000309295.4	+	9	2151	c.1886A>G	c.(1885-1887)gAg>gGg	p.E629G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	629	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACAGTGTGAGGGACTGGAG	0.542																																					p.E629G		Atlas-SNP	.											.	EHBP1L1	64	.	0			c.A1886G						.						59.0	65.0	63.0					11																	65350029		2008	4185	6193	SO:0001583	missense	254102	exon9			AGTGTGAGGGACT	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1886A>G	chr11.hg19:g.65350029A>G	ENSP00000312671:p.Glu629Gly	138.0	0.0		76.0	4.0	NM_001099409	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	hg19	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771561	0.49680	.	.	ENSG00000173442	ENST00000309295	T	0.69175	-0.38	4.44	2.04	0.26737	.	.	.	.	.	T	0.53384	0.1793	L	0.36672	1.1	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.49753	-0.8906	9	0.87932	D	0	.	6.5881	0.22632	0.696:0.0:0.304:0.0	.	629	Q8N3D4	EH1L1_HUMAN	G	629	ENSP00000312671:E629G	ENSP00000312671:E629G	E	+	2	0	EHBP1L1	65106605	0.764000	0.28473	0.011000	0.14972	0.008000	0.06430	1.848000	0.39309	0.581000	0.29539	0.383000	0.25322	GAG	.	.		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
MRPL48	51642	hgsc.bcm.edu	37	11	73536778	73536778	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:73536778G>A	ENST00000310614.7	+	4	794	c.138G>A	c.(136-138)cgG>cgA	p.R46R	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000535529.1_Silent_p.R28R|MRPL48_ENST00000542303.1_Silent_p.R46R|MRPL48_ENST00000411840.2_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	46						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GTATCAGTCGGCCCTACAAGA	0.403																																					p.R46R		Atlas-SNP	.											.	MRPL48	16	.	0			c.G138A						.						43.0	43.0	43.0					11																	73536778		1848	4077	5925	SO:0001819	synonymous_variant	51642	exon4			CAGTCGGCCCTAC	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.138G>A	chr11.hg19:g.73536778G>A		93.0	0.0		63.0	4.0	NM_016055	B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Silent	SNP	ENST00000310614.7	hg19	CCDS44676.1																																																																																			.	.		0.403	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055	
TMEM126A	84233	hgsc.bcm.edu	37	11	85367380	85367380	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:85367380A>G	ENST00000304511.2	+	5	532	c.423A>G	c.(421-423)aaA>aaG	p.K141K	TMEM126A_ENST00000528105.1_Silent_p.K71K|TMEM126A_ENST00000532180.1_Silent_p.K71K	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	141					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TACCACACAAAGGGAACATCT	0.358																																					p.K141K		Atlas-SNP	.											.	TMEM126A	20	.	0			c.A423G						.						95.0	86.0	89.0					11																	85367380		2203	4298	6501	SO:0001819	synonymous_variant	84233	exon5			ACACAAAGGGAAC		CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.423A>G	chr11.hg19:g.85367380A>G		161.0	0.0		83.0	4.0	NM_032273	B2R570|E9PI16	Silent	SNP	ENST00000304511.2	hg19	CCDS8268.1																																																																																			.	.		0.358	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273	
HYOU1	10525	hgsc.bcm.edu	37	11	118925746	118925746	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr11:118925746A>G	ENST00000404233.3	-	6	570	c.446T>C	c.(445-447)gTg>gCg	p.V149A	HYOU1_ENST00000525859.1_Missense_Mutation_p.V149A|HYOU1_ENST00000529972.1_Missense_Mutation_p.V149A|HYOU1_ENST00000543287.1_Missense_Mutation_p.V62A	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CATGCCCAACACTTCCTCAGG	0.532																																					p.V149A		Atlas-SNP	.											.	HYOU1	88	.	0			c.T446C						.						119.0	99.0	106.0					11																	118925746		2200	4295	6495	SO:0001583	missense	10525	exon6			CCCAACACTTCCT	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.446T>C	chr11.hg19:g.118925746A>G	ENSP00000384144:p.Val149Ala	71.0	0.0		31.0	4.0	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	hg19	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611289	0.87258	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01287	5.05;5.05;5.05;5.05;5.05	4.96	4.96	0.65561	.	0.122225	0.56097	D	0.000033	T	0.04048	0.0113	M	0.66378	2.025	0.44432	D	0.997352	P;P;P;P	0.43938	0.822;0.729;0.722;0.722	B;P;B;B	0.47603	0.42;0.551;0.42;0.42	T	0.33033	-0.9884	10	0.87932	D	0	-22.4032	13.3595	0.60648	1.0:0.0:0.0:0.0	.	140;193;149;149	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	A	149;140;149;149;149;192;62;149	ENSP00000384144:V149A;ENSP00000437313:V149A;ENSP00000433397:V149A;ENSP00000442727:V62A;ENSP00000431874:V149A	ENSP00000278752:V140A	V	-	2	0	HYOU1	118430956	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.467000	0.73547	2.074000	0.62210	0.459000	0.35465	GTG	.	.		0.532	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
WNK1	65125	hgsc.bcm.edu	37	12	970296	970296	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:970296G>A	ENST00000315939.6	+	7	2381	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	WNK1_ENST00000530271.2_Missense_Mutation_p.E580K|WNK1_ENST00000537687.1_Missense_Mutation_p.E580K|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.E173K|WNK1_ENST00000535572.1_Missense_Mutation_p.E580K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAA	0.473																																					p.E580K	Colon(19;451 567 6672 12618 28860)	Atlas-SNP	.											WNK1_ENST00000537687,rectum,carcinoma,-2,1	WNK1	403	.	1	Unknown(1)	skin(1)	c.G1738A						.						102.0	100.0	101.0					12																	970296		2203	4300	6503	SO:0001583	missense	65125	exon7			GAGCAAGAAAAAA	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1738G>A	chr12.hg19:g.970296G>A	ENSP00000313059:p.Glu580Lys	88.0	2.0		56.0	3.0	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	hg19	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473507	0.96274	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000004	T	0.41259	0.1151	M	0.64567	1.98	0.51767	D	0.999937	D;D;P	0.65815	0.995;0.995;0.949	D;D;P	0.73380	0.98;0.98;0.815	T	0.02173	-1.1201	10	0.34782	T	0.22	-14.5807	19.774	0.96385	0.0:0.0:1.0:0.0	.	580;580;580	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	580;580;580;27;580;173	ENSP00000441972:E580K;ENSP00000313059:E580K;ENSP00000444465:E580K;ENSP00000433548:E580K;ENSP00000341292:E173K	ENSP00000252477:E27K	E	+	1	0	WNK1	840557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.581000	0.82535	2.679000	0.91253	0.591000	0.81541	GAA	.	.		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RAD51AP1	10635	hgsc.bcm.edu	37	12	4665649	4665649	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:4665649A>G	ENST00000352618.4	+	8	902	c.852A>G	c.(850-852)aaA>aaG	p.K284K	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000543041.1_Silent_p.K166K|RAD51AP1_ENST00000228843.9_Silent_p.K301K	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAGCAAGAAACCTAAATGGG	0.388																																					p.K301K		Atlas-SNP	.											.	RAD51AP1	30	.	0			c.A903G						.						80.0	78.0	79.0					12																	4665649		2203	4300	6503	SO:0001819	synonymous_variant	10635	exon9			CAAGAAACCTAAA	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.852A>G	chr12.hg19:g.4665649A>G		106.0	0.0		62.0	4.0	NM_001130862		Silent	SNP	ENST00000352618.4	hg19	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	A	7.453	0.643102	0.14451	.	.	ENSG00000111247	ENST00000536117	.	.	.	4.51	-0.502	0.12004	.	.	.	.	.	T	0.39963	0.1098	.	.	.	0.32907	D	0.513931	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	-12.9997	7.4276	0.27109	0.5604:0.0:0.4396:0.0	.	.	.	.	A	253	.	.	T	+	1	0	RAD51AP1	4535910	0.940000	0.31905	0.520000	0.27837	0.886000	0.51366	-0.138000	0.10374	0.010000	0.14839	0.482000	0.46254	ACC	.	.		0.388	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479	
PZP	5858	hgsc.bcm.edu	37	12	9345181	9345181	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:9345181T>C	ENST00000261336.2	-	12	1437	c.1409A>G	c.(1408-1410)gAg>gGg	p.E470G	PZP_ENST00000381997.2_Missense_Mutation_p.E339G	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	470					female pregnancy (GO:0007565)|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)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGTGATAGTCTCCGTGTGGCC	0.502																																					p.E470G	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.A1409G						.						96.0	94.0	94.0					12																	9345181		2203	4300	6503	SO:0001583	missense	5858	exon12			ATAGTCTCCGTGT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1409A>G	chr12.hg19:g.9345181T>C	ENSP00000261336:p.Glu470Gly	181.0	0.0		134.0	6.0	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	hg19	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.558123	0.27827	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.62941	-0.01;-0.01	3.23	3.23	0.37069	Alpha-2-macroglobulin, N-terminal 2 (1);	0.493681	0.16547	U	0.209674	T	0.44286	0.1286	N	0.17474	0.49	0.09310	N	1	B;B	0.19073	0.033;0.022	B;B	0.24541	0.054;0.04	T	0.37056	-0.9722	10	0.48119	T	0.1	.	8.4735	0.32999	0.0:0.0:0.0:1.0	.	339;470	P20742-2;P20742	.;PZP_HUMAN	G	470;339	ENSP00000261336:E470G;ENSP00000371427:E339G	ENSP00000261336:E470G	E	-	2	0	PZP	9236448	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	0.112000	0.15479	1.448000	0.47680	0.260000	0.18958	GAG	.	.		0.502	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PLBD1	79887	hgsc.bcm.edu	37	12	14659104	14659104	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:14659104C>T	ENST00000240617.5	-	10	2123	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	491					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ACCTTTGTGTCATAACAACCT	0.458																																					p.D491N		Atlas-SNP	.											.	PLBD1	36	.	0			c.G1471A						.						123.0	107.0	113.0					12																	14659104		2203	4300	6503	SO:0001583	missense	79887	exon10			TTGTGTCATAACA	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1471G>A	chr12.hg19:g.14659104C>T	ENSP00000240617:p.Asp491Asn	160.0	0.0		77.0	5.0	NM_024829	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	hg19	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961166	0.92791	.	.	ENSG00000121316	ENST00000240617	T	0.21031	2.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71279	-0.4640	10	0.87932	D	0	-31.7468	18.182	0.89781	0.0:1.0:0.0:0.0	.	491	Q6P4A8	PLBL1_HUMAN	N	491	ENSP00000240617:D491N	ENSP00000240617:D491N	D	-	1	0	PLBD1	14550371	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.425000	0.80255	2.793000	0.96121	0.655000	0.94253	GAC	.	.		0.458	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829	
CMAS	55907	hgsc.bcm.edu	37	12	22215331	22215331	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:22215331A>G	ENST00000229329.2	+	7	1207	c.1077A>G	c.(1075-1077)aaA>aaG	p.K359K		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	359					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AATGGAGAAAAGAAATGGGCC	0.373																																					p.K359K		Atlas-SNP	.											.	CMAS	45	.	0			c.A1077G						.						152.0	170.0	164.0					12																	22215331		2203	4300	6503	SO:0001819	synonymous_variant	55907	exon7			GAGAAAAGAAATG	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1077A>G	chr12.hg19:g.22215331A>G		255.0	0.0		141.0	6.0	NM_018686	Q96AX5|Q9NQZ0	Silent	SNP	ENST00000229329.2	hg19	CCDS8696.1																																																																																			.	.		0.373	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
CNTN1	1272	hgsc.bcm.edu	37	12	41318438	41318438	+	Silent	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:41318438C>G	ENST00000551295.2	+	6	597	c.480C>G	c.(478-480)ccC>ccG	p.P160P	CNTN1_ENST00000360099.3_Silent_p.P160P|CNTN1_ENST00000347616.1_Silent_p.P160P|CNTN1_ENST00000547702.1_Silent_p.P160P|CNTN1_ENST00000547849.1_Silent_p.P160P|CNTN1_ENST00000348761.2_Silent_p.P149P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	160	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTGTGACCCCCCATACCATT	0.378																																					p.P160P		Atlas-SNP	.											.	CNTN1	207	.	0			c.C480G						.						121.0	102.0	109.0					12																	41318438		2203	4300	6503	SO:0001819	synonymous_variant	1272	exon6			TGACCCCCCATAC	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.480C>G	chr12.hg19:g.41318438C>G		240.0	0.0		118.0	27.0	NM_001256063	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	hg19	CCDS8737.1																																																																																			.	.		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43856718	43856718	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:43856718T>C	ENST00000389420.3	-	11	1593	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T532A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	532	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCGCAGTCTGTTCCATCTGCT	0.438																																					p.T532A		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.A1594G						.						148.0	113.0	125.0					12																	43856718		2203	4300	6503	SO:0001583	missense	80070	exon11			AGTCTGTTCCATC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1594A>G	chr12.hg19:g.43856718T>C	ENSP00000374071:p.Thr532Ala	145.0	0.0		82.0	4.0	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111586	0.77210	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.70869	-0.34;-0.52	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000045	D	0.89451	0.6719	H	0.97564	4.03	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93193	0.6585	10	0.87932	D	0	.	15.1967	0.73096	0.0:0.0:0.0:1.0	.	532	P59510	ATS20_HUMAN	A	532	ENSP00000374071:T532A;ENSP00000448341:T532A	ENSP00000374068:T532A	T	-	1	0	ADAMTS20	42142985	1.000000	0.71417	0.985000	0.45067	0.744000	0.42396	7.559000	0.82265	2.123000	0.65237	0.533000	0.62120	ACA	.	.		0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	hgsc.bcm.edu	37	12	44148626	44148626	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:44148626G>A	ENST00000416848.2	-	2	911	c.423C>T	c.(421-423)gcC>gcT	p.A141A	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.A141A|PUS7L_ENST00000553166.1_Silent_p.A141A|PUS7L_ENST00000551923.1_Silent_p.A141A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	141					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A141A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTACATCACAGGCAAAATTAT	0.368																																					p.A141A		Atlas-SNP	.											PUS7L,NS,carcinoma,0,1	PUS7L	73	.	1	Substitution - coding silent(1)	lung(1)	c.C423T						.						97.0	96.0	96.0					12																	44148626		2203	4299	6502	SO:0001819	synonymous_variant	83448	exon2			ATCACAGGCAAAA	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.423C>T	chr12.hg19:g.44148626G>A		119.0	0.0		75.0	25.0	NM_001098614	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	hg19	CCDS8743.1																																																																																			.	.		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
GPR84	53831	hgsc.bcm.edu	37	12	54757190	54757190	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:54757190A>G	ENST00000551809.1	-	1	1081	c.446T>C	c.(445-447)gTg>gCg	p.V149A	GPR84_ENST00000267015.3_Missense_Mutation_p.V149A|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAAGCTGGCCACGCCCACAAC	0.577																																					p.V149A		Atlas-SNP	.											.	GPR84	38	.	0			c.T446C						.						54.0	46.0	49.0					12																	54757190		2203	4300	6503	SO:0001583	missense	53831	exon2			CTGGCCACGCCCA	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.446T>C	chr12.hg19:g.54757190A>G	ENSP00000450310:p.Val149Ala	83.0	0.0		50.0	24.0	NM_020370	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	hg19	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526378	0.27299	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37584	1.19;1.19	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.608353	0.13667	N	0.371156	T	0.26231	0.0640	N	0.25060	0.705	0.38787	D	0.954905	B	0.22541	0.071	B	0.25614	0.062	T	0.09357	-1.0678	10	0.16420	T	0.52	-2.519	12.9907	0.58616	1.0:0.0:0.0:0.0	.	149	Q9NQS5	GPR84_HUMAN	A	149	ENSP00000267015:V149A;ENSP00000450310:V149A	ENSP00000267015:V149A	V	-	2	0	GPR84	53043457	0.994000	0.37717	0.775000	0.31657	0.498000	0.33706	6.753000	0.74904	2.020000	0.59435	0.454000	0.30748	GTG	.	.		0.577	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
STAT6	6778	hgsc.bcm.edu	37	12	57498314	57498314	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:57498314T>C	ENST00000300134.3	-	11	1470	c.1145A>G	c.(1144-1146)gAg>gGg	p.E382G	STAT6_ENST00000454075.3_Missense_Mutation_p.E382G|STAT6_ENST00000556155.1_Missense_Mutation_p.E382G|STAT6_ENST00000538913.2_Missense_Mutation_p.E272G|STAT6_ENST00000537215.2_Missense_Mutation_p.E272G|STAT6_ENST00000543873.2_Missense_Mutation_p.E382G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	382					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGCACTTCTCCTCTGTGAC	0.612																																					p.E382G		Atlas-SNP	.											.	STAT6	69	.	0			c.A1145G						.						106.0	86.0	92.0					12																	57498314		2203	4300	6503	SO:0001583	missense	6778	exon11			CACTTCTCCTCTG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1145A>G	chr12.hg19:g.57498314T>C	ENSP00000300134:p.Glu382Gly	141.0	0.0		81.0	4.0	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	hg19	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814954	0.90790	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.44	4.44	0.53790	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96482	0.9357	10	0.87932	D	0	-21.2024	11.7196	0.51675	0.0:0.0:0.0:1.0	.	382;382	A8K4S9;P42226	.;STAT6_HUMAN	G	382;272;272;382;382;272;382;272;382	ENSP00000300134:E382G;ENSP00000445409:E272G;ENSP00000438451:E382G;ENSP00000451742:E382G;ENSP00000444530:E272G;ENSP00000401486:E382G	ENSP00000300134:E382G	E	-	2	0	STAT6	55784581	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.848000	0.86902	1.863000	0.54032	0.533000	0.62120	GAG	.	.		0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153	
ZFC3H1	196441	hgsc.bcm.edu	37	12	72004493	72004493	+	Silent	SNP	A	A	G	rs377232932		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:72004493A>G	ENST00000378743.3	-	34	6172	c.5814T>C	c.(5812-5814)tgT>tgC	p.C1938C		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1938					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACAGTGATGCACAAAGAGGTA	0.343																																					p.C1938C		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.T5814C						.	A		0,3682		0,0,1841	79.0	72.0	74.0		5814	5.9	1.0	12		74	1,8171		0,1,4085	no	coding-synonymous	ZFC3H1	NM_144982.4		0,1,5926	GG,GA,AA		0.0122,0.0,0.0084		1938/1990	72004493	1,11853	1841	4086	5927	SO:0001819	synonymous_variant	196441	exon34			TGATGCACAAAGA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5814T>C	chr12.hg19:g.72004493A>G		97.0	0.0		80.0	4.0	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	hg19	CCDS41813.1																																																																																			.	.		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
PPP1R12A	4659	hgsc.bcm.edu	37	12	80226243	80226243	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:80226243T>C	ENST00000450142.2	-	4	782	c.516A>G	c.(514-516)gaA>gaG	p.E172E	PPP1R12A_ENST00000550107.1_Silent_p.E172E|PPP1R12A_ENST00000261207.5_Silent_p.E172E|PPP1R12A_ENST00000546369.1_Silent_p.E85E|PPP1R12A_ENST00000437004.2_Silent_p.E172E	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	172					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCCGTTCTTCTTCCTTTCGAG	0.373																																					p.E172E		Atlas-SNP	.											.	PPP1R12A	76	.	0			c.A516G						.						151.0	142.0	145.0					12																	80226243		1886	4112	5998	SO:0001819	synonymous_variant	4659	exon4			TTCTTCTTCCTTT	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.516A>G	chr12.hg19:g.80226243T>C		133.0	0.0		91.0	4.0	NM_002480	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	hg19	CCDS44947.1																																																																																			.	.		0.373	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
PTPRQ	374462	hgsc.bcm.edu	37	12	80887157	80887157	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:80887157C>T	ENST00000266688.5	+	15	1451	c.1451C>T	c.(1450-1452)gCt>gTt	p.A484V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	530	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CACTCACTTGCTACATTTATA	0.398																																					p.A316V		Atlas-SNP	.											.	PTPRQ	119	.	0			c.C947T						.						108.0	96.0	100.0					12																	80887157		692	1591	2283	SO:0001583	missense	374462	exon7			CACTTGCTACATT	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1451C>T	chr12.hg19:g.80887157C>T	ENSP00000266688:p.Ala484Val	94.0	0.0		56.0	17.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481302	0.44147	.	.	ENSG00000139304	ENST00000266688	T	0.36699	1.24	5.73	5.73	0.89815	Fibronectin, type III (3);	.	.	.	.	T	0.23410	0.0566	.	.	.	0.40029	D	0.975506	P	0.39665	0.682	B	0.30029	0.11	T	0.07770	-1.0755	8	0.11794	T	0.64	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	530	Q9UMZ3	PTPRQ_HUMAN	V	484	ENSP00000266688:A484V	ENSP00000266688:A484V	A	+	2	0	PTPRQ	79411288	1.000000	0.71417	0.961000	0.40146	0.202000	0.24057	5.262000	0.65501	2.699000	0.92147	0.655000	0.94253	GCT	.	.		0.398	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
NR2C1	7181	hgsc.bcm.edu	37	12	95425194	95425194	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:95425194A>G	ENST00000333003.5	-	11	1654	c.1324T>C	c.(1324-1326)Tgg>Cgg	p.W442R	NR2C1_ENST00000330677.7_Missense_Mutation_p.W442R|NR2C1_ENST00000393101.3_Missense_Mutation_p.W442R|NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	442					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ATCACTTGCCAGCACTGGGCA	0.368																																					p.W442R		Atlas-SNP	.											.	NR2C1	56	.	0			c.T1324C						.						126.0	128.0	127.0					12																	95425194		2203	4300	6503	SO:0001583	missense	7181	exon11			CTTGCCAGCACTG	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1324T>C	chr12.hg19:g.95425194A>G	ENSP00000333275:p.Trp442Arg	88.0	0.0		61.0	4.0	NM_001032287	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	hg19	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005809	0.54254	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.96459	-4.02;-4.02;-4.02	5.53	5.53	0.82687	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.251067	0.43747	D	0.000526	D	0.88869	0.6554	N	0.02539	-0.55	0.39368	D	0.966038	P;B;B	0.37636	0.603;0.413;0.175	B;B;B	0.36845	0.234;0.097;0.163	D	0.89745	0.3936	10	0.23302	T	0.38	.	15.9481	0.79809	1.0:0.0:0.0:0.0	.	442;442;442	P13056-3;P13056-2;P13056	.;.;NR2C1_HUMAN	R	442	ENSP00000333275:W442R;ENSP00000376813:W442R;ENSP00000328843:W442R	ENSP00000328843:W442R	W	-	1	0	NR2C1	93949325	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.597000	0.67577	2.225000	0.72522	0.460000	0.39030	TGG	.	.		0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
NUP37	79023	hgsc.bcm.edu	37	12	102470582	102470582	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:102470582A>G	ENST00000552283.1	-	8	905	c.766T>C	c.(766-768)Tta>Cta	p.L256L	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Silent_p.L256L|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	256					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TACCTGAATAAGCAGGCTCGA	0.378																																					p.L256L		Atlas-SNP	.											.	NUP37	26	.	0			c.T766C						.						159.0	135.0	143.0					12																	102470582		2203	4300	6503	SO:0001819	synonymous_variant	79023	exon7			TGAATAAGCAGGC	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.766T>C	chr12.hg19:g.102470582A>G		143.0	0.0		76.0	4.0	NM_024057	Q9H644	Silent	SNP	ENST00000552283.1	hg19	CCDS9089.1																																																																																			.	.		0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	
KIAA1033	23325	hgsc.bcm.edu	37	12	105534132	105534132	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:105534132A>G	ENST00000332180.5	+	16	1600	c.1513A>G	c.(1513-1515)Aca>Gca	p.T505A		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTCACATATAACACAGCACCT	0.343																																					p.T505A		Atlas-SNP	.											.	KIAA1033	83	.	0			c.A1513G						.						185.0	177.0	180.0					12																	105534132		1912	4134	6046	SO:0001583	missense	23325	exon16			CATATAACACAGC	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1513A>G	chr12.hg19:g.105534132A>G	ENSP00000328062:p.Thr505Ala	256.0	0.0		85.0	4.0	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	hg19	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.185806	0.38609	.	.	ENSG00000136051	ENST00000332180	T	0.29917	1.55	5.84	5.84	0.93424	.	0.138898	0.64402	D	0.000004	T	0.27027	0.0662	L	0.53249	1.67	0.52501	D	0.999954	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.09143	-1.0688	10	0.07990	T	0.79	.	12.4697	0.55779	0.8749:0.0:0.0:0.1251	.	506;505	B7ZKT9;Q2M389	.;WASH7_HUMAN	A	505	ENSP00000328062:T505A	ENSP00000328062:T505A	T	+	1	0	KIAA1033	104058262	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.631000	0.54280	2.230000	0.72887	0.528000	0.53228	ACA	.	.		0.343	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
ACACB	32	hgsc.bcm.edu	37	12	109617834	109617834	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:109617834T>C	ENST00000338432.7	+	11	1879	c.1760T>C	c.(1759-1761)gTg>gCg	p.V587A	ACACB_ENST00000377854.5_Missense_Mutation_p.V587A|ACACB_ENST00000377848.3_Missense_Mutation_p.V587A|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	587	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGCTTGCAGGTGGAACATCCC	0.557																																					p.V587A		Atlas-SNP	.											.	ACACB	330	.	0			c.T1760C						.						106.0	93.0	97.0					12																	109617834		2203	4300	6503	SO:0001583	missense	32	exon10			TGCAGGTGGAACA	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1760T>C	chr12.hg19:g.109617834T>C	ENSP00000341044:p.Val587Ala	197.0	0.0		76.0	4.0	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880874	0.91740	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97598	-4.45;-4.45;-4.45	4.89	4.89	0.63831	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98671	1.0688	10	0.87932	D	0	.	14.4983	0.67704	0.0:0.0:0.0:1.0	.	587	O00763	ACACB_HUMAN	A	587	ENSP00000341044:V587A;ENSP00000367079:V587A;ENSP00000367085:V587A	ENSP00000341044:V587A	V	+	2	0	ACACB	108102217	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.929000	0.87595	1.835000	0.53391	0.533000	0.62120	GTG	.	.		0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
ATXN2	6311	hgsc.bcm.edu	37	12	111963044	111963044	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:111963044T>C	ENST00000377617.3	-	6	1289	c.1128A>G	c.(1126-1128)gcA>gcG	p.A376A	ATXN2_ENST00000608853.1_Silent_p.A216A|ATXN2_ENST00000389153.4_Silent_p.A111A|ATXN2_ENST00000542287.2_Silent_p.A111A|ATXN2_ENST00000535949.1_Silent_p.A87A|ATXN2_ENST00000550104.1_Silent_p.A376A|ATXN2_ENST00000549455.1_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	376					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGTTCACCTGCATCCCAGG	0.433																																					p.A376A		Atlas-SNP	.											.	ATXN2	99	.	0			c.A1128G						.						173.0	148.0	157.0					12																	111963044		2203	4300	6503	SO:0001819	synonymous_variant	6311	exon6			TTCACCTGCATCC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1128A>G	chr12.hg19:g.111963044T>C		138.0	0.0		54.0	4.0	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	hg19	CCDS31902.1																																																																																			.	.		0.433	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
SBNO1	55206	hgsc.bcm.edu	37	12	123793921	123793921	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:123793921T>C	ENST00000602398.1	-	28	3693	c.3566A>G	c.(3565-3567)gAg>gGg	p.E1189G	SBNO1_ENST00000267176.4_Missense_Mutation_p.E1188G|SBNO1_ENST00000420886.2_Missense_Mutation_p.E1189G|SBNO1_ENST00000602750.1_Missense_Mutation_p.E1188G			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1189					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTAGCTTCCTCCCATGACAT	0.388																																					p.E1189G		Atlas-SNP	.											.	SBNO1	138	.	0			c.A3566G						.						115.0	113.0	113.0					12																	123793921		2203	4300	6503	SO:0001583	missense	55206	exon27			GCTTCCTCCCATG	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3566A>G	chr12.hg19:g.123793921T>C	ENSP00000473665:p.Glu1189Gly	181.0	0.0		91.0	5.0	NM_001167856	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	hg19	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426805	0.62733	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83673	-1.75;-1.75	5.2	4.06	0.47325	.	0.200475	0.42294	N	0.000721	T	0.81235	0.4780	M	0.82056	2.57	0.51012	D	0.999906	B;B;P	0.43431	0.039;0.066;0.807	B;B;B	0.37692	0.014;0.033;0.256	T	0.79052	-0.1961	10	0.39692	T	0.17	-11.4839	10.6188	0.45467	0.0:0.0756:0.0:0.9244	.	1189;1188;300	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	G	1189;1188	ENSP00000387361:E1189G;ENSP00000267176:E1188G	ENSP00000267176:E1188G	E	-	2	0	SBNO1	122359874	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.013000	0.88655	0.825000	0.34637	0.383000	0.25322	GAG	.	.		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
DNAH10	196385	hgsc.bcm.edu	37	12	124305128	124305128	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:124305128A>G	ENST00000409039.3	+	23	3673	c.3648A>G	c.(3646-3648)ggA>ggG	p.G1216G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1216	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTTACTAGGAGTAGAGCTTT	0.333																																					p.G1216G		Atlas-SNP	.											.	DNAH10	888	.	0			c.A3648G						.						65.0	67.0	66.0					12																	124305128		1826	4087	5913	SO:0001630	splice_region_variant	196385	exon23			ACTAGGAGTAGAG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3647-1A>G	chr12.hg19:g.124305128A>G		155.0	0.0		63.0	4.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	hg19	CCDS9255.2																																																																																			.	.		0.333	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Silent
TMEM132C	92293	hgsc.bcm.edu	37	12	128899651	128899651	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:128899651A>G	ENST00000435159.2	+	2	460	c.460A>G	c.(460-462)Atg>Gtg	p.M154V		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	154						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTTCCACATCATGGGCAGAGA	0.552																																					p.M154V		Atlas-SNP	.											.	TMEM132C	142	.	0			c.A460G						.						18.0	19.0	19.0					12																	128899651		692	1591	2283	SO:0001583	missense	92293	exon2			CACATCATGGGCA	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.460A>G	chr12.hg19:g.128899651A>G	ENSP00000410852:p.Met154Val	150.0	0.0		51.0	6.0	NM_001136103	Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	hg19		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.208375	0.00292	.	.	ENSG00000181234	ENST00000435159	T	0.09538	2.97	4.96	-0.417	0.12347	.	.	.	.	.	T	0.02342	0.0072	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.11182	T	0.66	.	4.7255	0.12939	0.1275:0.3468:0.4141:0.1117	.	154	Q8N3T6	T132C_HUMAN	V	154	ENSP00000410852:M154V	ENSP00000410852:M154V	M	+	1	0	TMEM132C	127465604	0.948000	0.32251	0.002000	0.10522	0.023000	0.10783	2.014000	0.40951	-0.595000	0.05828	-0.775000	0.03384	ATG	.	.		0.552	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
TMEM132D	121256	hgsc.bcm.edu	37	12	129694080	129694080	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr12:129694080A>G	ENST00000422113.2	-	5	1754	c.1428T>C	c.(1426-1428)gaT>gaC	p.D476D	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	476					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACGTCTTCATCAGACGATC	0.592																																					p.D476D		Atlas-SNP	.											.	TMEM132D	299	.	0			c.T1428C						.						106.0	86.0	93.0					12																	129694080		2203	4300	6503	SO:0001819	synonymous_variant	121256	exon5			GTCTTCATCAGAC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1428T>C	chr12.hg19:g.129694080A>G		230.0	0.0		73.0	4.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	hg19	CCDS9266.1																																																																																			.	.		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
SPATA13	221178	hgsc.bcm.edu	37	13	24874603	24874603	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:24874603A>G	ENST00000382095.4	+	11	2180	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	SPATA13_ENST00000382108.3_Silent_p.G1216G|SPATA13_ENST00000399949.2_Silent_p.G513G|SPATA13_ENST00000409126.1_Silent_p.G451G|SPATA13_ENST00000343003.6_Silent_p.G535G|RP11-307N16.6_ENST00000382141.4_Silent_p.G1094G|SPATA13_ENST00000424834.2_Silent_p.G1216G	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	591	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAGGACATGGAAAGTCAAAAG	0.388																																					p.G1216G		Atlas-SNP	.											.	SPATA13	92	.	0			c.A3648G						.						87.0	79.0	82.0					13																	24874603		2203	4300	6503	SO:0001819	synonymous_variant	221178	exon12			ACATGGAAAGTCA	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1773A>G	chr13.hg19:g.24874603A>G		161.0	0.0		98.0	4.0	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	hg19	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	A	2.433	-0.330481	0.05314	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.03	-9.43	0.00607	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61667	-0.7016	4	.	.	.	.	11.3878	0.49796	0.2594:0.2019:0.5388:0.0	.	.	.	.	E	1254	.	.	K	+	1	0	SPATA13	23772603	0.409000	0.25368	0.118000	0.21660	0.379000	0.30106	-0.268000	0.08607	-2.230000	0.00719	-1.119000	0.02030	AAA	.	.		0.388	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
ATP12A	479	hgsc.bcm.edu	37	13	25266933	25266933	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:25266933T>C	ENST00000381946.3	+	10	1443	c.1276T>C	c.(1276-1278)Ttt>Ctt	p.F426L	ATP12A_ENST00000218548.6_Missense_Mutation_p.F432L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	426					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AGACCAAGTCTTTGACCAAAG	0.512																																					p.F432L	Pancreas(156;1582 1935 18898 22665 26498)	Atlas-SNP	.											.	ATP12A	172	.	0			c.T1294C						.						214.0	212.0	213.0					13																	25266933		2203	4300	6503	SO:0001583	missense	479	exon10			CAAGTCTTTGACC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1276T>C	chr13.hg19:g.25266933T>C	ENSP00000371372:p.Phe426Leu	152.0	0.0		98.0	4.0	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281949	0.80692	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.95377	-3.69;-3.69	5.65	5.65	0.86999	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	N	0.20530	0.585	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.87578	0.998;0.993	D	0.95044	0.8181	10	0.41790	T	0.15	.	13.8261	0.63351	0.0:0.0:0.0:1.0	.	432;426	P54707-2;P54707	.;AT12A_HUMAN	L	432;426	ENSP00000218548:F432L;ENSP00000371372:F426L	ENSP00000218548:F432L	F	+	1	0	ATP12A	24164933	1.000000	0.71417	0.929000	0.37066	0.467000	0.32768	7.479000	0.81095	2.154000	0.67381	0.533000	0.62120	TTT	.	.		0.512	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP8A2	51761	hgsc.bcm.edu	37	13	26114518	26114518	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:26114518A>G	ENST00000381655.2	+	8	785	c.643A>G	c.(643-645)Ata>Gta	p.I215V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.I175V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	175					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAACCTTAAAATACGTCAGGT	0.388																																					p.I215V		Atlas-SNP	.											ATP8A2,colon,carcinoma,0,1	ATP8A2	181	.	0			c.A643G						.						120.0	111.0	114.0					13																	26114518		1872	4120	5992	SO:0001583	missense	51761	exon8			CTTAAAATACGTC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.643A>G	chr13.hg19:g.26114518A>G	ENSP00000371070:p.Ile215Val	221.0	2.0		123.0	5.0	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	hg19	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.216889	0.79352	.	.	ENSG00000132932	ENST00000381655;ENST00000255283	T;T	0.73681	-0.77;-0.77	6.15	3.68	0.42216	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.46567	1.45	0.52501	D	0.999951	D;D;D	0.55385	0.971;0.97;0.971	P;P;P	0.59288	0.855;0.814;0.855	T	0.76982	-0.2757	10	0.59425	D	0.04	.	9.2631	0.37625	0.8124:0.1227:0.0648:0.0	.	175;175;175	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	V	215;175	ENSP00000371070:I215V;ENSP00000255283:I175V	ENSP00000255283:I175V	I	+	1	0	ATP8A2	25012518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.013000	0.70776	1.121000	0.41925	0.523000	0.50628	ATA	.	.		0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
BRCA2	675	hgsc.bcm.edu	37	13	32911477	32911477	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:32911477A>G	ENST00000380152.3	+	11	3218	c.2985A>G	c.(2983-2985)ggA>ggG	p.G995G	BRCA2_ENST00000544455.1_Silent_p.G995G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	995	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.G995G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATGGGCAGGACTCTTAGGTC	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.G995G	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	BRCA2_ENST00000544455,NS,carcinoma,0,2	BRCA2	812	.	2	Substitution - coding silent(2)	kidney(2)	c.A2985G						.						52.0	58.0	56.0					13																	32911477		2203	4294	6497	SO:0001819	synonymous_variant	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	GGCAGGACTCTTA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2985A>G	chr13.hg19:g.32911477A>G		140.0	0.0		71.0	3.0	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	hg19	CCDS9344.1																																																																																			.	.		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
LINC00283	100874057	hgsc.bcm.edu	37	13	103397021	103397021	+	RNA	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:103397021G>A	ENST00000430111.1	+	0	1394									long intergenic non-protein coding RNA 283																		CATTTGATGTGTACTGAAACG	0.378																																					p.T2009I		Atlas-SNP	.											.	.	.	.	0			c.C6026T						.						131.0	110.0	116.0					13																	103397021		692	1591	2283			643677	exon4			TGATGTGTACTGA			13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		chr13.hg19:g.103397021G>A		150.0	0.0		98.0	52.0	NM_001146197		Missense_Mutation	SNP	ENST00000430111.1	hg19																																																																																				.	.		0.378	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
ERCC5	2073	hgsc.bcm.edu	37	13	103525646	103525646	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr13:103525646A>G	ENST00000355739.4	+	14	4340	c.2917A>G	c.(2917-2919)Aca>Gca	p.T973A	ERCC5_ENST00000375954.1_Missense_Mutation_p.T206A	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	973					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGAACGAAGACAGATGAATC	0.393			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.T1427A		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	.	.	0			c.A4279G						.						119.0	114.0	116.0					13																	103525646		2203	4300	6503	SO:0001583	missense	0	exon22	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ACGAAGACAGATG	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2917A>G	chr13.hg19:g.103525646A>G	ENSP00000347978:p.Thr973Ala	130.0	0.0		94.0	4.0	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	hg19	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013286	0.93346	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.79352	-1.26;-1.26	5.54	5.54	0.83059	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.83414	0.0029	10	0.29301	T	0.29	-18.1588	15.3376	0.74269	1.0:0.0:0.0:0.0	.	973	P28715	ERCC5_HUMAN	A	1398;973;805;206	ENSP00000347978:T973A;ENSP00000365121:T206A	ENSP00000347978:T973A	T	+	1	0	ERCC5	102323647	1.000000	0.71417	0.923000	0.36655	0.976000	0.68499	5.651000	0.67951	2.111000	0.64477	0.477000	0.44152	ACA	.	.		0.393	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
RNASE7	84659	hgsc.bcm.edu	37	14	21511444	21511444	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:21511444A>G	ENST00000298690.4	+	2	550	c.293A>G	c.(292-294)cAc>cGc	p.H98R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	98					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAAAACTGCCACCAGAGCCAC	0.547																																					p.H98R		Atlas-SNP	.											.	RNASE7	18	.	0			c.A293G						.						101.0	99.0	100.0					14																	21511444		2203	4300	6503	SO:0001583	missense	84659	exon2			ACTGCCACCAGAG	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.293A>G	chr14.hg19:g.21511444A>G	ENSP00000298690:p.His98Arg	118.0	0.0		69.0	4.0	NM_032572	P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	hg19	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145191	0.57044	.	.	ENSG00000165799	ENST00000298690	T	0.15372	2.43	5.09	5.09	0.68999	Ribonuclease A, domain (4);	0.376195	0.23939	U	0.043076	T	0.37865	0.1019	M	0.66439	2.03	0.34757	D	0.732393	D	0.67145	0.996	D	0.72625	0.978	T	0.53599	-0.8416	10	0.87932	D	0	-38.3011	11.1778	0.48610	1.0:0.0:0.0:0.0	.	98	Q9H1E1	RNAS7_HUMAN	R	98	ENSP00000298690:H98R	ENSP00000298690:H98R	H	+	2	0	RNASE7	20581284	0.999000	0.42202	0.999000	0.59377	0.360000	0.29518	3.974000	0.56852	2.142000	0.66516	0.533000	0.62120	CAC	.	.		0.547	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572	
ARHGEF40	55701	hgsc.bcm.edu	37	14	21544999	21544999	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:21544999T>C	ENST00000298694.4	+	8	2111	c.1984T>C	c.(1984-1986)Tta>Cta	p.L662L	ARHGEF40_ENST00000298693.3_Silent_p.L662L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	662						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCAGTGGGAGTTAGGAGGTCA	0.567																																					p.L662L		Atlas-SNP	.											.	ARHGEF40	84	.	0			c.T1984C						.						50.0	49.0	49.0					14																	21544999		2203	4300	6503	SO:0001819	synonymous_variant	55701	exon8			TGGGAGTTAGGAG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1984T>C	chr14.hg19:g.21544999T>C		168.0	0.0		89.0	4.0	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	hg19	CCDS32041.1																																																																																			.	.		0.567	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
ACIN1	22985	hgsc.bcm.edu	37	14	23551018	23551018	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:23551018T>C	ENST00000262710.1	-	5	965	c.638A>G	c.(637-639)aAa>aGa	p.K213R	ACIN1_ENST00000605057.1_Missense_Mutation_p.K155R|ACIN1_ENST00000457657.1_Missense_Mutation_p.K173R|ACIN1_ENST00000555053.1_Missense_Mutation_p.K213R|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	213	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAGTCACCTTTCTCTTCAGA	0.378																																					p.K213R		Atlas-SNP	.											.	ACIN1	147	.	0			c.A638G						.						223.0	203.0	210.0					14																	23551018		2203	4300	6503	SO:0001583	missense	22985	exon5			TCACCTTTCTCTT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.638A>G	chr14.hg19:g.23551018T>C	ENSP00000262710:p.Lys213Arg	121.0	0.0		77.0	4.0	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857153	0.71834	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30182	2.38;1.54;2.38	5.93	5.93	0.95920	.	0.000000	0.42172	D	0.000751	T	0.41558	0.1164	L	0.36672	1.1	0.26012	N	0.981971	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.33828	-0.9853	10	0.41790	T	0.15	-16.835	8.8645	0.35278	0.0:0.0829:0.0:0.9171	.	213;213	G3V3M7;Q9UKV3	.;ACINU_HUMAN	R	213;173;213	ENSP00000262710:K213R;ENSP00000405677:K173R;ENSP00000451328:K213R	ENSP00000262710:K213R	K	-	2	0	ACIN1	22620858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.631000	0.46502	2.265000	0.75225	0.533000	0.62120	AAA	.	.		0.378	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
FOXG1	2290	hgsc.bcm.edu	37	14	29237096	29237096	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:29237096T>C	ENST00000313071.4	+	1	810	c.611T>C	c.(610-612)cTc>cCc	p.L204P	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.L204P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	204					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGCTCACGCTCAACGGCATC	0.567																																					p.L204P		Atlas-SNP	.											.	FOXG1	92	.	0			c.T611C						.						52.0	51.0	51.0					14																	29237096		2203	4300	6503	SO:0001583	missense	2290	exon1			TCACGCTCAACGG		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.611T>C	chr14.hg19:g.29237096T>C	ENSP00000339004:p.Leu204Pro	175.0	0.0		120.0	5.0	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	hg19	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962050	0.74016	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.97598	-4.45;-4.45	3.26	3.26	0.37387	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000002	D	0.98661	0.9551	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	.	11.2949	0.49272	0.0:0.0:0.0:1.0	.	204	P55316	FOXG1_HUMAN	P	204	ENSP00000371975:L204P;ENSP00000339004:L204P	ENSP00000339004:L204P	L	+	2	0	FOXG1	28306847	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.895000	0.87343	1.121000	0.41925	0.254000	0.18369	CTC	.	.		0.567	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
SLC25A21	89874	hgsc.bcm.edu	37	14	37283153	37283153	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:37283153T>C	ENST00000331299.5	-	3	688	c.173A>G	c.(172-174)gAc>gGc	p.D58G	SLC25A21_ENST00000555449.1_Missense_Mutation_p.D58G|RP11-81F13.2_ENST00000557642.1_RNA	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	58					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCGAAAGCTGTCTACCAAGCT	0.318																																					p.D58G		Atlas-SNP	.											.	SLC25A21	24	.	0			c.A173G						.						77.0	77.0	77.0					14																	37283153		2202	4299	6501	SO:0001583	missense	89874	exon3			AAGCTGTCTACCA	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.173A>G	chr14.hg19:g.37283153T>C	ENSP00000329452:p.Asp58Gly	115.0	0.0		82.0	4.0	NM_030631	A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	hg19	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872262	0.33069	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79352	-1.26;-1.26	5.76	4.58	0.56647	Mitochondrial carrier domain (2);	0.097095	0.64402	N	0.000002	T	0.80874	0.4707	M	0.69248	2.105	0.54753	D	0.999986	B	0.29481	0.245	B	0.43575	0.424	T	0.79298	-0.1861	10	0.56958	D	0.05	-2.7184	10.2762	0.43512	0.0:0.0759:0.0:0.9241	.	58	Q9BQT8	ODC_HUMAN	G	58	ENSP00000451873:D58G;ENSP00000329452:D58G	ENSP00000329452:D58G	D	-	2	0	SLC25A21	36352904	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	3.501000	0.53325	1.068000	0.40764	0.533000	0.62120	GAC	.	.		0.318	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	
CDKN3	1033	hgsc.bcm.edu	37	14	54878223	54878223	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:54878223T>C	ENST00000541304.1	+	5	255	c.215T>C	c.(214-216)aTa>aCa	p.I72T	CDKN3_ENST00000543789.2_Missense_Mutation_p.I72T|CDKN3_ENST00000458126.2_Missense_Mutation_p.I72T|CDKN3_ENST00000556102.2_Missense_Mutation_p.I72T|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Missense_Mutation_p.I26T|CDKN3_ENST00000442975.2_Missense_Mutation_p.I32T|CDKN3_ENST00000335183.6_Missense_Mutation_p.I72T			Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						AGCTGTGGTATACAAGACATA	0.398																																					p.I72T	Pancreas(40;634 1012 9382 49950 52462)	Atlas-SNP	.											.	CDKN3	9	.	0			c.T215C						.						76.0	72.0	74.0					14																	54878223		2203	4300	6503	SO:0001583	missense	1033	exon5			GTGGTATACAAGA	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000541304.1:c.215T>C	chr14.hg19:g.54878223T>C	ENSP00000445572:p.Ile72Thr	84.0	0.0		42.0	27.0	NM_005192		Missense_Mutation	SNP	ENST00000541304.1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.20	3.780740	0.70222	.	.	ENSG00000100526	ENST00000335183;ENST00000543789;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000541304;ENST00000439312;ENST00000395577	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.67	4.53	0.55603	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);	0.158775	0.56097	D	0.000024	T	0.60104	0.2243	L	0.51422	1.61	0.41120	D	0.985802	B;P;P	0.44578	0.047;0.805;0.838	B;P;P	0.57679	0.213;0.732;0.825	T	0.60682	-0.7215	10	0.48119	T	0.1	-17.0445	9.7565	0.40506	0.0:0.077:0.0:0.923	.	32;72;72	Q16667-2;F8WDR6;Q16667	.;.;CDKN3_HUMAN	T	72;72;32;72;72;72;72;26	ENSP00000335357:I72T;ENSP00000440404:I72T;ENSP00000415333:I32T;ENSP00000396451:I72T;ENSP00000450711:I72T;ENSP00000445572:I72T;ENSP00000378944:I26T	ENSP00000335357:I72T	I	+	2	0	CDKN3	53947973	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.922000	0.40045	2.164000	0.68074	0.533000	0.62120	ATA	.	.		0.398	CDKN3-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000411158.1		
SPTB	6710	hgsc.bcm.edu	37	14	65241871	65241871	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:65241871A>G	ENST00000389721.5	-	22	4846	c.4814T>C	c.(4813-4815)cTc>cCc	p.L1605P	SPTB_ENST00000389722.3_Missense_Mutation_p.L1605P|SPTB_ENST00000389720.3_Missense_Mutation_p.L1605P|SPTB_ENST00000542895.1_Missense_Mutation_p.L1605P|SPTB_ENST00000556626.1_Missense_Mutation_p.L1605P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1605					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)		GATGACGTAGAGCTCCTGCTC	0.632																																					p.L1605P		Atlas-SNP	.											.	SPTB	378	.	0			c.T4814C						.						138.0	108.0	118.0					14																	65241871		2203	4300	6503	SO:0001583	missense	6710	exon22			ACGTAGAGCTCCT		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.4814T>C	chr14.hg19:g.65241871A>G	ENSP00000374371:p.Leu1605Pro	105.0	0.0		87.0	4.0	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.737202	0.49045	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.13	3.96	0.45880	.	0.132879	0.52532	D	0.000078	T	0.49253	0.1546	N	0.21617	0.685	0.80722	D	1	B;D;P	0.53462	0.031;0.96;0.721	B;P;B	0.60949	0.027;0.881;0.311	T	0.51340	-0.8718	10	0.87932	D	0	.	10.5594	0.45135	0.8549:0.0:0.0:0.1451	.	389;1605;1609	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	P	1609;1605;389;270;1605;1605;1605;1605	ENSP00000374372:L1605P;ENSP00000451324:L270P;ENSP00000451752:L1605P;ENSP00000374371:L1605P;ENSP00000443882:L1605P;ENSP00000374370:L1605P	ENSP00000334218:L389P	L	-	2	0	SPTB	64311624	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	9.339000	0.96797	0.861000	0.35504	0.459000	0.35465	CTC	.	.		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
MLH3	27030	hgsc.bcm.edu	37	14	75514922	75514922	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:75514922T>C	ENST00000556740.1	-	1	1472	c.1437A>G	c.(1435-1437)tcA>tcG	p.S479S	MLH3_ENST00000238662.7_Silent_p.S479S|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Silent_p.S479S|MLH3_ENST00000355774.2_Silent_p.S479S|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	479					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCAGCTTCTGATGCTACAA	0.378								Mismatch excision repair (MMR)																													p.S479S		Atlas-SNP	.											MLH3_ENST00000355774,right_upper_lobe,carcinoma,0,2	MLH3	200	.	0			c.A1437G						.						87.0	93.0	91.0					14																	75514922		2203	4299	6502	SO:0001819	synonymous_variant	27030	exon2			AGCTTCTGATGCT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1437A>G	chr14.hg19:g.75514922T>C		130.0	0.0		81.0	4.0	NM_014381	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	hg19	CCDS32123.1																																																																																			.	.		0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
SEL1L	6400	hgsc.bcm.edu	37	14	81956767	81956767	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:81956767T>C	ENST00000336735.4	-	13	1413	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	433	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGAGAGCTGTCTCATTACTC	0.363																																					p.T433A		Atlas-SNP	.											.	SEL1L	67	.	0			c.A1297G						.						139.0	121.0	127.0					14																	81956767		2203	4300	6503	SO:0001583	missense	6400	exon13			GAGCTGTCTCATT		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1297A>G	chr14.hg19:g.81956767T>C	ENSP00000337053:p.Thr433Ala	137.0	0.0		94.0	4.0	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	hg19	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837866	0.91117	.	.	ENSG00000071537	ENST00000336735	T	0.50001	0.76	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.52011	1.625	0.80722	D	1	P	0.46064	0.872	P	0.49561	0.615	T	0.44877	-0.9299	10	0.26408	T	0.33	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	433	Q9UBV2	SE1L1_HUMAN	A	433	ENSP00000337053:T433A	ENSP00000337053:T433A	T	-	1	0	SEL1L	81026520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.236000	0.78154	2.228000	0.72767	0.533000	0.62120	ACA	.	.		0.363	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
TRIP11	9321	hgsc.bcm.edu	37	14	92474090	92474090	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:92474090A>G	ENST00000267622.4	-	10	1794	c.1421T>C	c.(1420-1422)cTt>cCt	p.L474P		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	474					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTCCAAATTAAGTCTTAAGTC	0.328			T	PDGFRB	AML																																p.L474P	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	TRIP11	184	.	0			c.T1421C						.						147.0	138.0	141.0					14																	92474090		2202	4300	6502	SO:0001583	missense	9321	exon10			AAATTAAGTCTTA	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1421T>C	chr14.hg19:g.92474090A>G	ENSP00000267622:p.Leu474Pro	155.0	0.0		95.0	4.0	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	hg19	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637705	0.29157	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.61040	0.14	6.04	-3.19	0.05171	.	1.823300	0.02222	N	0.064106	T	0.45438	0.1342	L	0.50333	1.59	0.09310	N	0.999999	P;P	0.41569	0.755;0.718	B;B	0.37888	0.26;0.251	T	0.39143	-0.9628	10	0.30854	T	0.27	.	2.5457	0.04736	0.2409:0.1922:0.07:0.4969	.	210;474	F5H1Z0;Q15643	.;TRIPB_HUMAN	P	474;210	ENSP00000267622:L474P	ENSP00000267622:L474P	L	-	2	0	TRIP11	91543843	0.037000	0.19845	0.861000	0.33841	0.982000	0.71751	0.476000	0.22180	-0.130000	0.11599	0.459000	0.35465	CTT	.	.		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
UBR7	55148	hgsc.bcm.edu	37	14	93678456	93678456	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:93678456C>T	ENST00000013070.6	+	4	660	c.424C>T	c.(424-426)Cct>Tct	p.P142S	RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.P161S|UBR7_ENST00000416753.1_Missense_Mutation_p.P66S|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	142							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GAGACCTTATCCTGATCCTGA	0.413																																					p.P142S		Atlas-SNP	.											UBR7,rectum,carcinoma,0,1	UBR7	36	.	0			c.C424T						.						77.0	73.0	74.0					14																	93678456		2203	4300	6503	SO:0001583	missense	55148	exon4			CCTTATCCTGATC	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.424C>T	chr14.hg19:g.93678456C>T	ENSP00000013070:p.Pro142Ser	70.0	0.0		44.0	2.0	NM_175748	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	hg19	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.060317|5.060317	0.93846|0.93846	.|.	.|.	ENSG00000259066;ENSG00000012963;ENSG00000012963;ENSG00000012963|ENSG00000012963	ENST00000557574;ENST00000013070;ENST00000535646;ENST00000416753|ENST00000555113	T;T;T|.	0.76186|.	-1.0;0.1;0.1|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78142|0.78142	0.4237|0.4237	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.76075|0.76075	-0.3092|-0.3092	10|5	0.52906|.	T|.	0.07|.	-22.8126|-22.8126	20.2361|20.2361	0.98357|0.98357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	66;142|.	E9PCJ7;Q8N806|.	.;UBR7_HUMAN|.	S|F	161;142;66;66|132	ENSP00000451369:P161S;ENSP00000013070:P142S;ENSP00000391706:P66S|.	ENSP00000013070:P142S|.	P|S	+|+	1|2	0|0	RP11-371E8.4;UBR7|UBR7	92748209|92748209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.561000|7.561000	0.82288|0.82288	2.791000|2.791000	0.96007|0.96007	0.591000|0.591000	0.81541|0.81541	CCT|TCC	.	.		0.413	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748	
BTBD7	55727	hgsc.bcm.edu	37	14	93709383	93709383	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:93709383A>G	ENST00000334746.5	-	11	2942	c.2635T>C	c.(2635-2637)Tcc>Ccc	p.S879P	BTBD7_ENST00000554565.1_Missense_Mutation_p.S528P|BTBD7_ENST00000393170.2_Missense_Mutation_p.S453P	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	879					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GACAGTGTGGACACACCCACC	0.522																																					p.S879P		Atlas-SNP	.											.	BTBD7	112	.	0			c.T2635C						.						136.0	123.0	128.0					14																	93709383		2203	4300	6503	SO:0001583	missense	55727	exon11			GTGTGGACACACC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2635T>C	chr14.hg19:g.93709383A>G	ENSP00000335615:p.Ser879Pro	171.0	0.0		116.0	5.0	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	hg19	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930422	0.73327	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.59364	0.62;0.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.997;0.986	T	0.70070	-0.4973	10	0.72032	D	0.01	.	16.3063	0.82849	1.0:0.0:0.0:0.0	.	453;528;879	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	P	879;528;494;453	ENSP00000335615:S879P;ENSP00000451010:S528P	ENSP00000335615:S879P	S	-	1	0	BTBD7	92779136	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	6.831000	0.75324	2.259000	0.74868	0.529000	0.55759	TCC	.	.		0.522	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
IFI27	3429	hgsc.bcm.edu	37	14	94582130	94582130	+	Missense_Mutation	SNP	T	T	C	rs3833507	byFrequency	TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:94582130T>C	ENST00000555744.1	+	4	313	c.125T>C	c.(124-126)gTg>gCg	p.V42A	IFI27_ENST00000557634.1_Missense_Mutation_p.V32A|IFI27_ENST00000298902.5_Missense_Mutation_p.V42A|IFI27_ENST00000557098.1_5'UTR|IFI27_ENST00000444961.1_Splice_Site_p.V45A|IFI27_ENST00000448882.1_Missense_Mutation_p.V45A			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	42				V -> VAMA (in Ref. 1; CAA47739). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.A43_V44insMAA(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTGCAGTTGTGGCTGTGCCC	0.627																																					p.V42A	GBM(128;797 1667 20895 29868 47129)	Atlas-SNP	.											IFI27,colon,carcinoma,0,16	IFI27	39	.	1	Insertion - In frame(1)	breast(1)	c.T125C						.						14.0	13.0	13.0					14																	94582130		2184	4278	6462	SO:0001583	missense	3429	exon4			CAGTTGTGGCTGT	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.125T>C	chr14.hg19:g.94582130T>C	ENSP00000451956:p.Val42Ala	48.0	0.0		27.0	2.0	NM_005532	Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	hg19	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.181118	0.01633	.	.	ENSG00000165949	ENST00000554448;ENST00000444961;ENST00000448882;ENST00000554800;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	3.52	-1.47	0.08772	.	0.951477	0.08752	N	0.898966	T	0.09642	0.0237	N	0.02674	-0.535	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.34925	-0.9809	10	0.02654	T	1	.	7.2043	0.25899	0.0:0.4761:0.0:0.5239	.	42	P40305	IFI27_HUMAN	A	42;45;45;42;42;42;32;42	ENSP00000451370:V42A;ENSP00000413536:V45A;ENSP00000410901:V45A;ENSP00000451875:V42A;ENSP00000298902:V42A;ENSP00000452560:V32A;ENSP00000451956:V42A	ENSP00000298902:V42A	V	+	2	0	IFI27	93651883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.001000	0.13038	-0.296000	0.08947	-0.400000	0.06385	GTG	.	.		0.627	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
SERPINA10	51156	hgsc.bcm.edu	37	14	94752493	94752493	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:94752493A>G	ENST00000393096.1	-	4	1560	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	SERPINA10_ENST00000554173.1_Silent_p.A365A|SERPINA10_ENST00000554723.1_Silent_p.A405A|SERPINA10_ENST00000261994.4_Silent_p.A365A	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	365					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CACTAAGGTCAGCAAAGGGTG	0.438																																					p.A365A		Atlas-SNP	.											.	SERPINA10	83	.	0			c.T1095C						.						124.0	110.0	115.0					14																	94752493		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon4			AAGGTCAGCAAAG	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1095T>C	chr14.hg19:g.94752493A>G		171.0	0.0		89.0	4.0	NM_001100607	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	hg19	CCDS9923.1																																																																																			.	.		0.438	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
ATG2B	55102	hgsc.bcm.edu	37	14	96798729	96798729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:96798729C>A	ENST00000359933.4	-	10	2274	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	461					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCAAGGAACTCTCCCCAAGTG	0.348																																					p.E461X		Atlas-SNP	.											.	ATG2B	169	.	0			c.G1381T						.						118.0	111.0	113.0					14																	96798729		1830	4081	5911	SO:0001587	stop_gained	55102	exon10			GGAACTCTCCCCA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1381G>T	chr14.hg19:g.96798729C>A	ENSP00000353010:p.Glu461*	367.0	1.0		226.0	84.0	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	47	13.186436	0.99726	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.55	5.55	0.83447	.	1.863070	0.05717	U	0.596957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.2253	0.59911	0.0:0.9175:0.0:0.0825	.	.	.	.	X	461	.	ENSP00000353010:E461X	E	-	1	0	ATG2B	95868482	1.000000	0.71417	0.911000	0.35937	0.882000	0.50991	2.272000	0.43373	2.606000	0.88127	0.655000	0.94253	GAG	.	.		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
ATG2B	55102	hgsc.bcm.edu	37	14	96809538	96809538	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:96809538A>G	ENST00000359933.4	-	5	1555	c.662T>C	c.(661-663)cTt>cCt	p.L221P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	221					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGAGCTGAAGTAACTTGTG	0.413																																					p.L221P		Atlas-SNP	.											.	ATG2B	169	.	0			c.T662C						.						106.0	102.0	104.0					14																	96809538		1897	4125	6022	SO:0001583	missense	55102	exon5			AGCTGAAGTAACT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.662T>C	chr14.hg19:g.96809538A>G	ENSP00000353010:p.Leu221Pro	153.0	0.0		94.0	4.0	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514933	0.85389	.	.	ENSG00000066739	ENST00000359933	T	0.15139	2.45	5.27	5.27	0.74061	.	0.198408	0.31636	U	0.007305	T	0.32882	0.0844	L	0.47190	1.495	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	T	0.03795	-1.1003	10	0.72032	D	0.01	.	15.1796	0.72945	1.0:0.0:0.0:0.0	.	221	Q96BY7	ATG2B_HUMAN	P	221	ENSP00000353010:L221P	ENSP00000353010:L221P	L	-	2	0	ATG2B	95879291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	1.995000	0.58328	0.482000	0.46254	CTT	.	.		0.413	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
PAPOLA	10914	hgsc.bcm.edu	37	14	97022280	97022280	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:97022280A>G	ENST00000216277.8	+	18	1981	c.1761A>G	c.(1759-1761)tcA>tcG	p.S587S	PAPOLA_ENST00000392990.2_Silent_p.S587S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	587	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTGAAAGCTCAGGGGGTAAGG	0.403																																					p.S587S	NSCLC(19;254 734 11908 35501 39234)	Atlas-SNP	.											.	PAPOLA	58	.	0			c.A1761G						.						78.0	79.0	79.0					14																	97022280		2203	4300	6503	SO:0001819	synonymous_variant	10914	exon18			AAGCTCAGGGGGT	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1761A>G	chr14.hg19:g.97022280A>G		177.0	0.0		113.0	5.0	NM_032632	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	hg19	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.332840	0.24167	.	.	ENSG00000090060	ENST00000556459	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.73305	0.3570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72221	-0.4356	4	.	.	.	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	.	.	.	R	88	.	.	Q	+	2	0	PAPOLA	96092033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.361000	0.73070	2.343000	0.79666	0.533000	0.62120	CAG	.	.		0.403	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
CCNK	8812	hgsc.bcm.edu	37	14	99968554	99968554	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:99968554A>G	ENST00000389879.5	+	7	709	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	CCNK_ENST00000555049.1_Missense_Mutation_p.T196A|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	196					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TCTCTGCACCACCTTGTCACT	0.383																																					p.T196A		Atlas-SNP	.											.	CCNK	32	.	0			c.A586G						.						77.0	69.0	72.0					14																	99968554		1905	4111	6016	SO:0001583	missense	8812	exon7			TGCACCACCTTGT	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.586A>G	chr14.hg19:g.99968554A>G	ENSP00000374529:p.Thr196Ala	119.0	0.0		82.0	4.0	NM_001099402	Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	hg19	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748000	0.89663	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.44881	0.91;0.91;0.91	5.8	5.8	0.92144	Cyclin-like (2);	0.046992	0.85682	D	0.000000	T	0.65923	0.2738	M	0.80847	2.515	0.80722	D	1	D;D	0.71674	0.998;0.986	D;P	0.65987	0.94;0.852	T	0.70517	-0.4850	10	0.66056	D	0.02	-21.3293	16.1596	0.81693	1.0:0.0:0.0:0.0	.	196;196	O75909;O75909-2	CCNK_HUMAN;.	A	196;198;198;196;196;196	ENSP00000374529:T196A;ENSP00000450792:T196A;ENSP00000452307:T196A	ENSP00000216279:T198A	T	+	1	0	CCNK	99038307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.307000	0.96226	2.216000	0.71823	0.533000	0.62120	ACC	.	.		0.383	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1		
WARS	7453	hgsc.bcm.edu	37	14	100808883	100808883	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:100808883T>C	ENST00000355338.2	-	9	1583	c.965A>G	c.(964-966)gAc>gGc	p.D322G	RP11-638I2.9_ENST00000556212.1_RNA|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Missense_Mutation_p.D281G|WARS_ENST00000557135.1_Missense_Mutation_p.D322G|WARS_ENST00000392882.2_Missense_Mutation_p.D322G|WARS_ENST00000358655.4_Missense_Mutation_p.D281G|WARS_ENST00000556645.1_Missense_Mutation_p.D281G	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	322					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGGGCGACGTCCCTTGTCAT	0.587																																					p.D322G		Atlas-SNP	.											.	WARS	37	.	0			c.A965G						.						66.0	66.0	66.0					14																	100808883		2203	4300	6503	SO:0001583	missense	7453	exon9			GCGACGTCCCTTG	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.965A>G	chr14.hg19:g.100808883T>C	ENSP00000347495:p.Asp322Gly	180.0	0.0		121.0	5.0	NM_004184	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	hg19	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.5|28.5	4.926682|4.926682	0.92319|0.92319	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645|ENST00000554601	T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89188|0.89188	0.6644|0.6644	H|H	0.98507|0.98507	4.25|4.25	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	D|D	0.93312|0.93312	0.6685|0.6685	10|5	0.87932|.	D|.	0|.	-2.3281|-2.3281	16.2303|16.2303	0.82332|0.82332	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	322|.	P23381|.	SYWC_HUMAN|.	G|A	322;281;322;281;322;281|75	ENSP00000376620:D322G;ENSP00000351481:D281G;ENSP00000347495:D322G;ENSP00000339485:D281G;ENSP00000451460:D322G;ENSP00000451887:D281G|.	ENSP00000339485:D281G|.	D|T	-|-	2|1	0|0	WARS|WARS	99878636|99878636	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.889000|0.889000	0.51656|0.51656	8.013000|8.013000	0.88655|0.88655	2.233000|2.233000	0.73108|0.73108	0.533000|0.533000	0.62120|0.62120	GAC|ACG	.	.		0.587	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184	
RCOR1	23186	hgsc.bcm.edu	37	14	103148307	103148307	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:103148307A>G	ENST00000570597.1	+	3	428	c.428A>G	c.(427-429)gAa>gGa	p.E143G	RCOR1_ENST00000262241.6_Missense_Mutation_p.E146G			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	143	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AATCTGTCAGAAGCAAAGTGT	0.373																																					p.E146G		Atlas-SNP	.											.	RCOR1	39	.	0			c.A437G						.						105.0	94.0	98.0					14																	103148307		2203	4300	6503	SO:0001583	missense	23186	exon3			TGTCAGAAGCAAA	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.428A>G	chr14.hg19:g.103148307A>G	ENSP00000459789:p.Glu143Gly	109.0	0.0		72.0	4.0	NM_015156	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.261680	0.80358	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.25	5.25	0.73442	ELM2 domain (2);	0.058965	0.64402	D	0.000004	T	0.70465	0.3227	L	0.50333	1.59	0.58432	D	0.999991	D	0.62365	0.991	D	0.76575	0.988	T	0.73594	-0.3933	9	0.87932	D	0	-23.7068	14.1505	0.65381	1.0:0.0:0.0:0.0	.	143	Q9UKL0	RCOR1_HUMAN	G	143	.	ENSP00000262241:E143G	E	+	2	0	RCOR1	102218060	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.041000	0.70988	1.985000	0.57927	0.533000	0.62120	GAA	.	.		0.373	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	
TDRD9	122402	hgsc.bcm.edu	37	14	104431724	104431724	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:104431724A>G	ENST00000409874.4	+	4	523	c.475A>G	c.(475-477)Agc>Ggc	p.S159G	TDRD9_ENST00000554571.1_3'UTR|TDRD9_ENST00000339063.5_Missense_Mutation_p.S159G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	159	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCCACGGGAAGCGGTAAAAG	0.478																																					p.S159G		Atlas-SNP	.											.	TDRD9	175	.	0			c.A475G						.						76.0	72.0	73.0					14																	104431724		692	1591	2283	SO:0001583	missense	122402	exon4			ACGGGAAGCGGTA	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.475A>G	chr14.hg19:g.104431724A>G	ENSP00000387303:p.Ser159Gly	126.0	0.0		90.0	4.0	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	hg19	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	12.26	1.886119	0.33348	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.05319	3.46;3.46	4.54	4.54	0.55810	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.	.	.	.	T	0.35068	0.0919	H	0.95151	3.63	0.50632	D	0.999889	D	0.63046	0.992	D	0.70016	0.967	T	0.52808	-0.8526	9	0.66056	D	0.02	.	14.186	0.65605	1.0:0.0:0.0:0.0	.	159	Q8NDG6	TDRD9_HUMAN	G	159	ENSP00000387303:S159G;ENSP00000343545:S159G	ENSP00000343545:S159G	S	+	1	0	TDRD9	103501477	1.000000	0.71417	0.120000	0.21714	0.311000	0.27955	9.232000	0.95325	1.807000	0.52817	0.377000	0.23210	AGC	.	.		0.478	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
CEP170B	283638	hgsc.bcm.edu	37	14	105350781	105350781	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:105350781A>G	ENST00000414716.3	+	9	1893	c.1665A>G	c.(1663-1665)gcA>gcG	p.A555A	CEP170B_ENST00000453495.1_Silent_p.A556A|CEP170B_ENST00000556508.1_Silent_p.A485A|CEP170B_ENST00000418279.1_Silent_p.A485A	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	555						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TGACCAAGGCACGGAAACAGG	0.697																																					p.A555A		Atlas-SNP	.											.	.	.	.	0			c.A1665G						.						4.0	4.0	4.0					14																	105350781		1912	3898	5810	SO:0001819	synonymous_variant	283638	exon9			CAAGGCACGGAAA	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1665A>G	chr14.hg19:g.105350781A>G		78.0	0.0		50.0	4.0	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	hg19	CCDS45175.1																																																																																			.	.		0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
TUBGCP5	114791	hgsc.bcm.edu	37	15	22869927	22869927	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:22869927A>G	ENST00000283645.4	+	21	2981	c.2851A>G	c.(2851-2853)Aaa>Gaa	p.K951E	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.K951E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	951					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGCTTTGTGAAAGAAGCTAT	0.443																																					p.K951E		Atlas-SNP	.											.	TUBGCP5	82	.	0			c.A2851G						.						215.0	156.0	176.0					15																	22869927		2203	4300	6503	SO:0001583	missense	114791	exon21			TTTGTGAAAGAAG	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2851A>G	chr15.hg19:g.22869927A>G	ENSP00000283645:p.Lys951Glu	153.0	0.0		121.0	5.0	NM_052903	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	hg19	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248217	0.80024	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.23552	1.9;1.9	5.16	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	P;P	0.57425	0.82;0.82	T	0.01776	-1.1276	10	0.30854	T	0.27	-19.8559	11.3117	0.49368	0.9285:0.0:0.0715:0.0	.	951;951	Q96RT8;E9PB12	GCP5_HUMAN;.	E	951	ENSP00000283645:K951E;ENSP00000409217:K951E	ENSP00000283645:K951E	K	+	1	0	TUBGCP5	20421368	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.386000	0.90166	1.079000	0.41038	0.533000	0.62120	AAA	.	.		0.443	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
NDN	4692	hgsc.bcm.edu	37	15	23931977	23931977	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:23931977C>T	ENST00000331837.4	-	1	473	c.388G>A	c.(388-390)Ggc>Agc	p.G130S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	130	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G130S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTGTAGCTGCCGATGACATCT	0.582									Prader-Willi syndrome																												p.G130S		Atlas-SNP	.											NDN,NS,carcinoma,0,1	NDN	79	.	1	Substitution - Missense(1)	endometrium(1)	c.G388A						.						86.0	80.0	82.0					15																	23931977		2203	4300	6503	SO:0001583	missense	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	AGCTGCCGATGAC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.388G>A	chr15.hg19:g.23931977C>T	ENSP00000332643:p.Gly130Ser	100.0	0.0		47.0	3.0	NM_002487	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	hg19	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508486	0.64410	.	.	ENSG00000182636	ENST00000331837	T	0.04706	3.57	3.87	1.9	0.25705	.	0.203113	0.40064	N	0.001196	T	0.07503	0.0189	N	0.24115	0.695	0.27578	N	0.949674	D	0.76494	0.999	D	0.68039	0.955	T	0.12863	-1.0531	10	0.49607	T	0.09	.	4.5274	0.11988	0.0:0.6402:0.2343:0.1255	.	130	Q99608	NECD_HUMAN	S	130	ENSP00000332643:G130S	ENSP00000332643:G130S	G	-	1	0	NDN	21483070	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	1.271000	0.33098	0.891000	0.36235	0.561000	0.74099	GGC	.	.		0.582	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
RYR3	6263	hgsc.bcm.edu	37	15	33922201	33922201	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:33922201A>G	ENST00000389232.4	+	22	2810	c.2740A>G	c.(2740-2742)Act>Gct	p.T914A	RYR3_ENST00000415757.3_Missense_Mutation_p.T914A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	914	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCCCAGAAACTGAGAAGAA	0.338																																					p.T914A		Atlas-SNP	.											.	RYR3	760	.	0			c.A2740G						.						91.0	83.0	85.0					15																	33922201		1838	4094	5932	SO:0001583	missense	6263	exon22			CCAGAAACTGAGA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2740A>G	chr15.hg19:g.33922201A>G	ENSP00000373884:p.Thr914Ala	125.0	0.0		81.0	4.0	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801897	0.31869	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91068	-2.78;-2.78	5.35	5.35	0.76521	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	N	0.16602	0.42	0.58432	D	0.999999	D;D	0.61697	0.99;0.977	D;P	0.72982	0.979;0.76	D	0.86331	0.1698	10	0.10902	T	0.67	.	15.503	0.75716	1.0:0.0:0.0:0.0	.	914;914	Q15413-2;Q15413	.;RYR3_HUMAN	A	914	ENSP00000373884:T914A;ENSP00000399610:T914A	ENSP00000354735:T914A	T	+	1	0	RYR3	31709493	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.858000	0.75461	2.236000	0.73375	0.528000	0.53228	ACT	.	.		0.338	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
AQR	9716	hgsc.bcm.edu	37	15	35166047	35166047	+	Silent	SNP	A	A	G	rs368882712		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:35166047A>G	ENST00000156471.5	-	30	3804	c.3579T>C	c.(3577-3579)ccT>ccC	p.P1193P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1193					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGTAAGGATTAGGTTCAGATT	0.373																																					p.P1193P		Atlas-SNP	.											.	AQR	139	.	0			c.T3579C						.	A		0,3674		0,0,1837	85.0	85.0	85.0		3579	-3.1	1.0	15		85	1,8161		0,1,4080	no	coding-synonymous	AQR	NM_014691.2		0,1,5917	GG,GA,AA		0.0123,0.0,0.0084		1193/1486	35166047	1,11835	1837	4081	5918	SO:0001819	synonymous_variant	9716	exon30			AGGATTAGGTTCA	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3579T>C	chr15.hg19:g.35166047A>G		122.0	0.0		83.0	4.0	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	hg19	CCDS42013.1																																																																																			.	.		0.373	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	hgsc.bcm.edu	37	15	35167042	35167042	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:35167042T>C	ENST00000156471.5	-	29	3486	c.3261A>G	c.(3259-3261)cgA>cgG	p.R1087R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1087					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATCGTTTTAGTCGGCTAAATC	0.388																																					p.R1087R		Atlas-SNP	.											.	AQR	139	.	0			c.A3261G						.						117.0	109.0	111.0					15																	35167042		1862	4104	5966	SO:0001819	synonymous_variant	9716	exon29			TTTTAGTCGGCTA	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3261A>G	chr15.hg19:g.35167042T>C		117.0	0.0		73.0	4.0	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	hg19	CCDS42013.1																																																																																			.	.		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
C15orf41	84529	hgsc.bcm.edu	37	15	36989565	36989565	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:36989565T>C	ENST00000566621.1	+	8	768	c.518T>C	c.(517-519)cTt>cCt	p.L173P	C15orf41_ENST00000569302.1_Missense_Mutation_p.L173P|C15orf41_ENST00000562877.1_Missense_Mutation_p.L75P|C15orf41_ENST00000437989.2_Missense_Mutation_p.L173P|C15orf41_ENST00000567389.1_Missense_Mutation_p.L75P|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000338183.4_Missense_Mutation_p.L75P	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	173										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AGAGACTTGCTTCTAGAGAAA	0.413																																					p.L173P		Atlas-SNP	.											.	C15orf41	24	.	0			c.T518C						.						188.0	189.0	188.0					15																	36989565		1914	4139	6053	SO:0001583	missense	84529	exon8			ACTTGCTTCTAGA	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.518T>C	chr15.hg19:g.36989565T>C	ENSP00000455397:p.Leu173Pro	210.0	0.0		150.0	6.0	NM_001130010	B2RD87	Missense_Mutation	SNP	ENST00000566621.1	hg19	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561220	0.65538	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.62498	0.02	5.6	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80037	-0.1550	10	0.87932	D	0	-11.632	11.6014	0.51006	0.0:0.07:0.0:0.93	.	173	Q9Y2V0	CO041_HUMAN	P	173;75	ENSP00000401362:L173P	ENSP00000342433:L75P	L	+	2	0	C15orf41	34776857	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.535000	0.82014	0.952000	0.37798	0.528000	0.53228	CTT	.	.		0.413	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499	
CHST14	113189	hgsc.bcm.edu	37	15	40764276	40764276	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:40764276T>C	ENST00000306243.5	+	1	1117	c.864T>C	c.(862-864)ccT>ccC	p.P288P	CHST14_ENST00000559991.1_Silent_p.P263P	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	288					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		TGTGCCAGCCTTGTGCCGTGC	0.572																																					p.P288P		Atlas-SNP	.											.	CHST14	19	.	0			c.T864C						.						122.0	122.0	122.0					15																	40764276		2203	4300	6503	SO:0001819	synonymous_variant	113189	exon1			CCAGCCTTGTGCC	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.864T>C	chr15.hg19:g.40764276T>C		155.0	0.0		77.0	4.0	NM_130468	Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	ENST00000306243.5	hg19	CCDS10059.1																																																																																			.	.		0.572	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468	
LTK	4058	hgsc.bcm.edu	37	15	41799394	41799394	+	Silent	SNP	G	G	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:41799394G>C	ENST00000263800.6	-	11	1536	c.1440C>G	c.(1438-1440)gcC>gcG	p.A480A	LTK_ENST00000355166.5_Silent_p.A419A|LTK_ENST00000561619.1_Silent_p.A178A|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	480					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGGGATTGGGGGCTGTCCTGA	0.612										TSP Lung(18;0.14)																											p.A480A		Atlas-SNP	.											.	LTK	117	.	0			c.C1440G						.						55.0	57.0	56.0					15																	41799394		2203	4300	6503	SO:0001819	synonymous_variant	4058	exon11			ATTGGGGGCTGTC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1440C>G	chr15.hg19:g.41799394G>C		117.0	0.0		77.0	35.0	NM_002344	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	hg19	CCDS10077.1																																																																																			.	.		0.612	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
DUOX2	50506	hgsc.bcm.edu	37	15	45401796	45401796	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:45401796A>G	ENST00000603300.1	-	11	1362	c.1160T>C	c.(1159-1161)gTg>gCg	p.V387A	DUOX2_ENST00000389039.6_Missense_Mutation_p.V387A	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	387	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCTCATTCACCTCCTGGGT	0.522																																					p.V387A		Atlas-SNP	.											.	DUOX2	137	.	0			c.T1160C						.						103.0	95.0	98.0					15																	45401796		2198	4298	6496	SO:0001583	missense	50506	exon11			TCATTCACCTCCT	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1160T>C	chr15.hg19:g.45401796A>G	ENSP00000475084:p.Val387Ala	142.0	0.0		77.0	4.0	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	hg19	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563590	0.86335	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	5.36	0.76844	.	0.264153	0.37012	N	0.002281	T	0.76285	0.3966	M	0.88377	2.95	0.58432	D	0.999999	P	0.40875	0.731	P	0.48738	0.588	T	0.81265	-0.1011	9	0.87932	D	0	-21.8641	14.5299	0.67917	1.0:0.0:0.0:0.0	.	387	Q9NRD8	DUOX2_HUMAN	A	387	.	ENSP00000373691:V387A	V	-	2	0	DUOX2	43189088	1.000000	0.71417	0.627000	0.29227	0.826000	0.46750	9.020000	0.93667	2.036000	0.60181	0.402000	0.26972	GTG	.	.		0.522	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
CEP152	22995	hgsc.bcm.edu	37	15	49090248	49090248	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:49090248A>G	ENST00000380950.2	-	3	275	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L	CEP152_ENST00000399334.3_Splice_Site_p.L30L|CEP152_ENST00000325747.5_Splice_Site_p.L30L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	30					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AACTGCTGCAACTGAGTCAAA	0.493																																					p.L30L		Atlas-SNP	.											.	CEP152	145	.	0			c.T88C						.						67.0	69.0	68.0					15																	49090248		2046	4203	6249	SO:0001630	splice_region_variant	22995	exon3			GCTGCAACTGAGT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.88-1T>C	chr15.hg19:g.49090248A>G		97.0	0.0		55.0	4.0	NM_014985	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	hg19	CCDS58361.1																																																																																			.	.		0.493	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Silent
SHC4	399694	hgsc.bcm.edu	37	15	49176517	49176517	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:49176517C>A	ENST00000332408.4	-	4	1196	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	256	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTCCTGAAAACTGAAGATTAC	0.323																																					p.Q256H		Atlas-SNP	.											.	SHC4	70	.	0			c.G768T						.						111.0	109.0	110.0					15																	49176517		2196	4295	6491	SO:0001583	missense	399694	exon4			TGAAAACTGAAGA	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.768G>T	chr15.hg19:g.49176517C>A	ENSP00000329668:p.Gln256His	117.0	0.0		67.0	6.0	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583076	0.65992	.	.	ENSG00000185634	ENST00000332408	T	0.20200	2.09	5.14	3.22	0.36961	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000002	T	0.29850	0.0746	M	0.68317	2.08	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.12967	-1.0527	10	0.59425	D	0.04	-19.8923	11.744	0.51809	0.0:0.8525:0.0:0.1475	.	256	Q6S5L8	SHC4_HUMAN	H	256	ENSP00000329668:Q256H	ENSP00000329668:Q256H	Q	-	3	2	SHC4	46963809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.202000	0.51067	1.394000	0.46624	0.655000	0.94253	CAG	.	.		0.323	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
AP4E1	23431	hgsc.bcm.edu	37	15	51289911	51289911	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:51289911A>G	ENST00000261842.5	+	18	2841	c.2735A>G	c.(2734-2736)gAa>gGa	p.E912G	AP4E1_ENST00000560508.1_Missense_Mutation_p.E837G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	912					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAAACTACTGAATACATACAC	0.348																																					p.E912G		Atlas-SNP	.											.	AP4E1	78	.	0			c.A2735G						.						66.0	68.0	67.0					15																	51289911		2196	4294	6490	SO:0001583	missense	23431	exon18			CTACTGAATACAT	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2735A>G	chr15.hg19:g.51289911A>G	ENSP00000261842:p.Glu912Gly	85.0	0.0		44.0	4.0	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789433	0.31685	.	.	ENSG00000081014	ENST00000261842	T	0.19532	2.14	5.2	5.2	0.72013	Coatomer, beta subunit, C-terminal (1);	0.109704	0.64402	D	0.000008	T	0.20536	0.0494	L	0.43152	1.355	0.41394	D	0.987639	B	0.12013	0.005	B	0.10450	0.005	T	0.02444	-1.1158	10	0.41790	T	0.15	-16.8814	14.2599	0.66078	1.0:0.0:0.0:0.0	.	912	Q9UPM8	AP4E1_HUMAN	G	912	ENSP00000261842:E912G	ENSP00000261842:E912G	E	+	2	0	AP4E1	49077203	0.967000	0.33354	0.905000	0.35620	0.662000	0.39071	2.870000	0.48451	1.966000	0.57179	0.383000	0.25322	GAA	.	.		0.348	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
UNC13C	440279	hgsc.bcm.edu	37	15	54825124	54825124	+	Silent	SNP	T	T	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:54825124T>A	ENST00000260323.11	+	25	5556	c.5556T>A	c.(5554-5556)gtT>gtA	p.V1852V	UNC13C_ENST00000545554.1_Silent_p.V1852V|UNC13C_ENST00000537900.1_Silent_p.V1850V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1852					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTTCCAGGTTATAATTGAAG	0.323																																					p.V1852V		Atlas-SNP	.											.	UNC13C	674	.	0			c.T5556A						.						36.0	34.0	35.0					15																	54825124		1783	4049	5832	SO:0001819	synonymous_variant	440279	exon24			CCAGGTTATAATT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5556T>A	chr15.hg19:g.54825124T>A		96.0	0.0		55.0	18.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	hg19	CCDS45264.1																																																																																			.	.		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
ALDH1A2	8854	hgsc.bcm.edu	37	15	58306387	58306387	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:58306387T>C	ENST00000249750.4	-	2	977	c.210A>G	c.(208-210)caA>caG	p.Q70Q	ALDH1A2_ENST00000558231.1_Silent_p.Q41Q|ALDH1A2_ENST00000559517.1_5'Flank|ALDH1A2_ENST00000347587.3_Silent_p.Q70Q|ALDH1A2_ENST00000537372.1_Silent_p.Q49Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	70					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TGTCTGCTTCTTGAACTTCAC	0.423																																					p.Q70Q		Atlas-SNP	.											.	ALDH1A2	69	.	0			c.A210G						.						111.0	106.0	108.0					15																	58306387		2192	4292	6484	SO:0001819	synonymous_variant	8854	exon2			TGCTTCTTGAACT	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.210A>G	chr15.hg19:g.58306387T>C		191.0	0.0		102.0	5.0	NM_003888	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	hg19	CCDS10163.1																																																																																			.	.		0.423	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
ADAM10	102	hgsc.bcm.edu	37	15	58919930	58919930	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:58919930A>G	ENST00000260408.3	-	10	1772	c.1329T>C	c.(1327-1329)gtT>gtC	p.V443V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V142V|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	443	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTTCTCAAGAACTTGGCTTA	0.308																																					p.V443V		Atlas-SNP	.											.	ADAM10	59	.	0			c.T1329C						.						141.0	138.0	139.0					15																	58919930		2191	4292	6483	SO:0001819	synonymous_variant	102	exon10			CTCAAGAACTTGG	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1329T>C	chr15.hg19:g.58919930A>G		118.0	0.0		90.0	4.0	NM_001110	B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	hg19	CCDS10167.1																																																																																			.	.		0.308	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
VPS13C	54832	hgsc.bcm.edu	37	15	62214150	62214150	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:62214150A>G	ENST00000261517.5	-	55	7131	c.7058T>C	c.(7057-7059)cTt>cCt	p.L2353P	VPS13C_ENST00000395896.4_Missense_Mutation_p.L2353P|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2310P|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2310P	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTTACATCAAGCCTTAAATT	0.373																																					p.L2353P		Atlas-SNP	.											.	VPS13C	506	.	0			c.T7058C						.						134.0	117.0	123.0					15																	62214150		2203	4300	6503	SO:0001583	missense	54832	exon55			ACATCAAGCCTTA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7058T>C	chr15.hg19:g.62214150A>G	ENSP00000261517:p.Leu2353Pro	141.0	0.0		96.0	4.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005213	0.54254	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.52983	2.41;2.41;2.41;0.64	5.67	5.67	0.87782	.	0.203719	0.43416	D	0.000565	T	0.65790	0.2725	M	0.76574	2.34	0.80722	D	1	D;D;B;D	0.58970	0.984;0.984;0.056;0.972	P;P;B;P	0.58873	0.847;0.847;0.097;0.707	T	0.70475	-0.4861	10	0.87932	D	0	.	15.9024	0.79392	1.0:0.0:0.0:0.0	.	2310;2353;2310;2353	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	P	2310;2353;2353;2353	ENSP00000249837:L2310P;ENSP00000261517:L2353P;ENSP00000379233:L2353P;ENSP00000379235:L2353P	ENSP00000249837:L2310P	L	-	2	0	VPS13C	60001442	1.000000	0.71417	0.447000	0.26932	0.209000	0.24338	8.543000	0.90651	2.146000	0.66826	0.533000	0.62120	CTT	.	.		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
HERC1	8925	hgsc.bcm.edu	37	15	63966643	63966643	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:63966643T>C	ENST00000443617.2	-	38	7831	c.7744A>G	c.(7744-7746)Aga>Gga	p.R2582G	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2582					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCAATGCTCTCTTTATGGGT	0.483																																					p.R2582G		Atlas-SNP	.											.	HERC1	624	.	0			c.A7744G						.						65.0	63.0	64.0					15																	63966643		1978	4176	6154	SO:0001583	missense	8925	exon38			ATGCTCTCTTTAT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7744A>G	chr15.hg19:g.63966643T>C	ENSP00000390158:p.Arg2582Gly	200.0	0.0		84.0	4.0	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664951	0.47572	.	.	ENSG00000103657	ENST00000443617	T	0.33216	1.42	5.87	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.29908	0.895	0.53688	D	0.999971	P	0.47762	0.9	B	0.42214	0.38	T	0.02294	-1.1181	10	0.87932	D	0	.	13.0115	0.58733	0.0:0.0:0.3996:0.6004	.	2582	Q15751	HERC1_HUMAN	G	2582	ENSP00000390158:R2582G	ENSP00000390158:R2582G	R	-	1	2	HERC1	61753696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.705000	0.37867	0.426000	0.26116	0.528000	0.53228	AGA	.	.		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	hgsc.bcm.edu	37	15	64039146	64039146	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:64039146C>T	ENST00000443617.2	-	12	2578	c.2491G>A	c.(2491-2493)Gac>Aac	p.D831N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	831					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAGTTGAGTCCATCAGTCTG	0.448																																					p.D831N		Atlas-SNP	.											.	HERC1	624	.	0			c.G2491A						.						49.0	45.0	46.0					15																	64039146		1895	4064	5959	SO:0001583	missense	8925	exon12			TTGAGTCCATCAG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2491G>A	chr15.hg19:g.64039146C>T	ENSP00000390158:p.Asp831Asn	141.0	0.0		98.0	4.0	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565715	0.96540	.	.	ENSG00000103657	ENST00000443617	T	0.27557	1.66	5.35	5.35	0.76521	.	0.000000	0.85682	U	0.000000	T	0.53706	0.1813	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.55108	-0.8192	10	0.72032	D	0.01	.	19.0574	0.93070	0.0:1.0:0.0:0.0	.	831	Q15751	HERC1_HUMAN	N	831	ENSP00000390158:D831N	ENSP00000390158:D831N	D	-	1	0	HERC1	61826199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.629000	0.83207	2.499000	0.84300	0.585000	0.79938	GAC	.	.		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
DENND4A	10260	hgsc.bcm.edu	37	15	65968921	65968921	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:65968921C>G	ENST00000431932.2	-	23	4307	c.4099G>C	c.(4099-4101)Gaa>Caa	p.E1367Q	DENND4A_ENST00000443035.3_Missense_Mutation_p.E1410Q	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1367					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAGGTAGATTCAGAATCCTGG	0.393																																					p.E1410Q		Atlas-SNP	.											.	DENND4A	217	.	0			c.G4228C						.						80.0	75.0	77.0					15																	65968921		1851	4089	5940	SO:0001583	missense	10260	exon24			TAGATTCAGAATC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4099G>C	chr15.hg19:g.65968921C>G	ENSP00000396830:p.Glu1367Gln	181.0	0.0		120.0	5.0	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	hg19	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440411	0.43326	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05258	3.47;3.47	5.66	4.75	0.60458	.	1.745490	0.02428	N	0.083288	T	0.10035	0.0246	L	0.47716	1.5	0.47737	D	0.999507	B;B	0.32245	0.361;0.361	B;B	0.26864	0.074;0.074	T	0.33548	-0.9864	10	0.25751	T	0.34	.	14.6074	0.68489	0.0:0.93:0.0:0.07	.	1410;1367	E7EPL3;Q7Z401	.;MYCPP_HUMAN	Q	1410;1367	ENSP00000391167:E1410Q;ENSP00000396830:E1367Q	ENSP00000396830:E1367Q	E	-	1	0	DENND4A	63755975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.997000	0.70646	1.412000	0.46977	0.655000	0.94253	GAA	.	.		0.393	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
NOX5	79400	hgsc.bcm.edu	37	15	69341315	69341315	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:69341315T>C	ENST00000388866.3	+	14	1957	c.1916T>C	c.(1915-1917)aTc>aCc	p.I639T	NOX5_ENST00000448182.3_Missense_Mutation_p.I593T|NOX5_ENST00000455873.3_Missense_Mutation_p.I604T|NOX5_ENST00000530406.2_Missense_Mutation_p.I611T|NOX5_ENST00000260364.5_Missense_Mutation_p.I621T|NOX5_ENST00000525163.1_3'UTR	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	639					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTTATCTGGATCAACAGAGAC	0.552																																					p.I639T		Atlas-SNP	.											.	NOX5	60	.	0			c.T1916C						.						65.0	57.0	60.0					15																	69341315		2200	4298	6498	SO:0001583	missense	79400	exon14			TCTGGATCAACAG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1916T>C	chr15.hg19:g.69341315T>C	ENSP00000373518:p.Ile639Thr	94.0	0.0		72.0	4.0	NM_024505	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	hg19	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893095	0.52121	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.95588	-3.75;-3.75;-3.75	3.42	3.42	0.39159	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	M	0.76727	2.345	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.992	D	0.96683	0.9505	10	0.66056	D	0.02	-17.143	10.6958	0.45899	0.0:0.0:0.0:1.0	.	604;639;611	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	604;621;639;611	ENSP00000416828:I604T;ENSP00000373518:I639T;ENSP00000432440:I611T	ENSP00000373518:I639T	I	+	2	0	NOX5	67128369	1.000000	0.71417	0.995000	0.50966	0.554000	0.35429	5.155000	0.64900	1.209000	0.43321	0.164000	0.16699	ATC	.	.		0.552	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
PEAK1	79834	hgsc.bcm.edu	37	15	77473310	77473310	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:77473310T>C	ENST00000560626.2	-	4	1434	c.959A>G	c.(958-960)tAt>tGt	p.Y320C	PEAK1_ENST00000312493.4_Missense_Mutation_p.Y320C|PEAK1_ENST00000558305.1_Missense_Mutation_p.Y320C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	320					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATTTTCCTCATAACCATTCAG	0.428																																					p.Y320C		Atlas-SNP	.											.	.	.	.	0			c.A959G						.						87.0	79.0	81.0					15																	77473310		1922	4130	6052	SO:0001583	missense	0	exon5			TCCTCATAACCAT		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.959A>G	chr15.hg19:g.77473310T>C	ENSP00000452796:p.Tyr320Cys	155.0	0.0		89.0	4.0	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	hg19	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187400	0.38609	.	.	ENSG00000173517	ENST00000312493	T	0.73789	-0.78	5.3	4.18	0.49190	.	0.000000	0.33382	U	0.004973	T	0.72985	0.3529	N	0.17082	0.46	0.43593	D	0.995949	D	0.89917	1.0	D	0.87578	0.998	T	0.71928	-0.4444	10	0.45353	T	0.12	-5.5403	8.1587	0.31185	0.0:0.1543:0.0:0.8457	.	320	Q9H792	PEAK1_HUMAN	C	320	ENSP00000309230:Y320C	ENSP00000309230:Y320C	Y	-	2	0	AC087465.1	75260365	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	5.028000	0.64115	0.861000	0.35504	0.455000	0.32223	TAT	.	.		0.428	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
PEAK1	79834	hgsc.bcm.edu	37	15	77473962	77473962	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:77473962C>G	ENST00000560626.2	-	4	782	c.307G>C	c.(307-309)Ggg>Cgg	p.G103R	PEAK1_ENST00000312493.4_Missense_Mutation_p.G103R|PEAK1_ENST00000558305.1_Missense_Mutation_p.G103R			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	103					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGGTTCCACCCTATGATGACA	0.423																																					p.G103R		Atlas-SNP	.											.	.	.	.	0			c.G307C						.						203.0	195.0	197.0					15																	77473962		1947	4138	6085	SO:0001583	missense	0	exon5			TCCACCCTATGAT		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.307G>C	chr15.hg19:g.77473962C>G	ENSP00000452796:p.Gly103Arg	197.0	0.0		124.0	44.0	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	hg19	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959287	0.34565	.	.	ENSG00000173517	ENST00000312493	T	0.68903	-0.36	5.76	4.66	0.58398	.	0.238594	0.17033	U	0.189628	T	0.49474	0.1559	N	0.19112	0.55	0.27427	N	0.954138	P	0.34780	0.468	B	0.27500	0.08	T	0.51718	-0.8670	10	0.49607	T	0.09	-8.351	13.9485	0.64101	0.0:0.9176:0.0:0.0824	.	103	Q9H792	PEAK1_HUMAN	R	103	ENSP00000309230:G103R	ENSP00000309230:G103R	G	-	1	0	AC087465.1	75261017	0.959000	0.32827	0.986000	0.45419	0.995000	0.86356	4.507000	0.60434	2.724000	0.93272	0.650000	0.86243	GGG	.	.		0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
SH2D7	646892	hgsc.bcm.edu	37	15	78393469	78393469	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:78393469C>T	ENST00000328828.5	+	5	874	c.874C>T	c.(874-876)Cct>Tct	p.P292S	SH2D7_ENST00000409568.2_Missense_Mutation_p.P156S	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	292										endometrium(2)|kidney(2)|lung(3)	7						ACAGAACAGGCCTGATGGCCT	0.637																																					p.P292S		Atlas-SNP	.											.	SH2D7	26	.	0			c.C874T						.						22.0	25.0	24.0					15																	78393469		1891	4117	6008	SO:0001583	missense	646892	exon5			AACAGGCCTGATG		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.874C>T	chr15.hg19:g.78393469C>T	ENSP00000327846:p.Pro292Ser	115.0	0.0		67.0	43.0	NM_001101404		Missense_Mutation	SNP	ENST00000328828.5	hg19	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	C	8.777	0.927343	0.18056	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.61742	0.08;0.24	3.75	-0.448	0.12230	.	0.716340	0.12608	N	0.454087	T	0.34861	0.0912	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17198	-1.0377	10	0.46703	T	0.11	-1.4708	3.3582	0.07177	0.0:0.4337:0.2047:0.3615	.	292	A6NKC9	SH2D7_HUMAN	S	156;292	ENSP00000386676:P156S;ENSP00000327846:P292S	ENSP00000327846:P292S	P	+	1	0	SH2D7	76180524	0.011000	0.17503	0.006000	0.13384	0.014000	0.08584	0.724000	0.25954	0.028000	0.15324	-0.254000	0.11334	CCT	.	.		0.637	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404	
HDGFRP3	50810	hgsc.bcm.edu	37	15	83832756	83832756	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:83832756A>G	ENST00000299633.4	-	2	759	c.156T>C	c.(154-156)caT>caC	p.H52H		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		52	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTTACGTTTCATGGGTGCCAA	0.388																																					p.H52H		Atlas-SNP	.											.	HDGFRP3	17	.	0			c.T156C						.						136.0	128.0	131.0					15																	83832756		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			CGTTTCATGGGTG																												ENST00000299633.4:c.156T>C	chr15.hg19:g.83832756A>G		101.0	0.0		85.0	4.0	NM_016073		Silent	SNP	ENST00000299633.4	hg19	CCDS32314.1																																																																																			.	.		0.388	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1		
POLG	5428	hgsc.bcm.edu	37	15	89864157	89864157	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:89864157T>C	ENST00000268124.5	-	18	3154	c.2821A>G	c.(2821-2823)Atc>Gtc	p.I941V	POLG_ENST00000442287.2_Missense_Mutation_p.I941V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	941					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCACGGCTGATGCCCACAGTA	0.552								DNA polymerases (catalytic subunits)																													p.I941V	Colon(73;648 1203 11348 18386 27782)	Atlas-SNP	.											.	POLG	75	.	0			c.A2821G						.						115.0	92.0	100.0					15																	89864157		2200	4299	6499	SO:0001583	missense	5428	exon18			GGCTGATGCCCAC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2821A>G	chr15.hg19:g.89864157T>C	ENSP00000268124:p.Ile941Val	136.0	0.0		50.0	4.0	NM_002693	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	hg19	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359111	0.82353	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96587	-4.06;-4.06	5.15	5.15	0.70609	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.79475	2.455	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	D	0.98708	1.0703	10	0.72032	D	0.01	-21.6569	14.9635	0.71174	0.0:0.0:0.0:1.0	.	941	P54098	DPOG1_HUMAN	V	941	ENSP00000268124:I941V;ENSP00000399851:I941V	ENSP00000268124:I941V	I	-	1	0	POLG	87665161	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.698000	0.84413	1.944000	0.56390	0.482000	0.46254	ATC	.	.		0.552	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
MCTP2	55784	hgsc.bcm.edu	37	15	94882652	94882652	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr15:94882652A>G	ENST00000357742.4	+	4	771	c.771A>G	c.(769-771)ctA>ctG	p.L257L	MCTP2_ENST00000543482.1_Silent_p.L257L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.L257L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	257	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCAAAAGCTACGTGTGAAGG	0.373																																					p.L257L		Atlas-SNP	.											MCTP2,NS,carcinoma,0,1	MCTP2	122	.	0			c.A771G						.						99.0	100.0	100.0					15																	94882652		2197	4298	6495	SO:0001819	synonymous_variant	55784	exon4			AAAGCTACGTGTG	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.771A>G	chr15.hg19:g.94882652A>G		96.0	0.0		48.0	2.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	hg19	CCDS32338.1																																																																																			.	.		0.373	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
DECR2	26063	hgsc.bcm.edu	37	16	457501	457501	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:457501T>C	ENST00000219481.5	+	4	416	c.278T>C	c.(277-279)gTc>gCc	p.V93A	DECR2_ENST00000424398.2_Missense_Mutation_p.V81A|DECR2_ENST00000397710.1_Missense_Mutation_p.V144A|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	93					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CCCCCAGCTGTCATGGCCGCC	0.612																																					p.V93A		Atlas-SNP	.											DECR2_ENST00000397710,NS,carcinoma,0,2	DECR2	47	.	0			c.T278C						.						79.0	79.0	79.0					16																	457501		2202	4300	6502	SO:0001583	missense	26063	exon4			CAGCTGTCATGGC	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.278T>C	chr16.hg19:g.457501T>C	ENSP00000219481:p.Val93Ala	164.0	1.0		49.0	2.0	NM_020664	Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	hg19	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863054	0.51482	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.53206	0.63;0.63	4.89	4.89	0.63831	NAD(P)-binding domain (1);	0.244793	0.47093	D	0.000243	T	0.45458	0.1343	L	0.52905	1.665	0.26923	N	0.966631	P	0.38020	0.615	B	0.39706	0.307	T	0.44421	-0.9329	10	0.40728	T	0.16	.	12.2476	0.54578	0.0:0.0:0.0:1.0	.	93	Q9NUI1	DECR2_HUMAN	A	93;144;81	ENSP00000219481:V93A;ENSP00000400374:V81A	ENSP00000219481:V93A	V	+	2	0	DECR2	397502	1.000000	0.71417	0.005000	0.12908	0.006000	0.05464	7.499000	0.81566	1.831000	0.53308	0.459000	0.35465	GTC	.	.		0.612	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	
TSC2	7249	hgsc.bcm.edu	37	16	2107122	2107122	+	Missense_Mutation	SNP	T	T	G	rs45517131|rs397515102		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:2107122T>G	ENST00000219476.3	+	9	1421	c.791T>G	c.(790-792)cTt>cGt	p.L264R	TSC2_ENST00000439673.2_Missense_Mutation_p.L227R|TSC2_ENST00000568454.1_Missense_Mutation_p.L275R|TSC2_ENST00000353929.4_Missense_Mutation_p.L264R|TSC2_ENST00000350773.4_Missense_Mutation_p.L264R|TSC2_ENST00000382538.6_Missense_Mutation_p.L215R|TSC2_ENST00000401874.2_Missense_Mutation_p.L264R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	264	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGAACCTCCTTGGCACCCAC	0.672			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.L264R		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	TSC2	364	.	0			c.T791G	GRCh37	CM090985	TSC2	M	rs45517131	.						40.0	28.0	32.0					16																	2107122		2080	4005	6085	SO:0001583	missense	7249	exon9	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ACCTCCTTGGCAC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.791T>G	chr16.hg19:g.2107122T>G	ENSP00000219476:p.Leu264Arg	251.0	0.0		92.0	5.0	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.243093	0.79912	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.65	4.65	0.58169	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.64402	D	0.000002	D	0.92090	0.7493	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;0.996;0.999;0.999;1.0;0.998	D	0.93167	0.6563	10	0.72032	D	0.01	-13.3355	14.3569	0.66742	0.0:0.0:0.0:1.0	.	215;227;264;264;264;264	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	R	264;264;264;227;215;264	ENSP00000219476:L264R;ENSP00000384468:L264R;ENSP00000248099:L264R;ENSP00000399232:L227R;ENSP00000371978:L215R;ENSP00000344383:L264R	ENSP00000219476:L264R	L	+	2	0	TSC2	2047123	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.730000	0.84881	1.857000	0.53885	0.459000	0.35465	CTT	.	.		0.672	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
METTL22	79091	hgsc.bcm.edu	37	16	8735035	8735035	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:8735035T>C	ENST00000381920.3	+	7	1078	c.820T>C	c.(820-822)Tgc>Cgc	p.C274R	METTL22_ENST00000561758.1_Missense_Mutation_p.C218R|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	274						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						GGACGACCTCTGCACAGGTGT	0.453																																					p.C274R		Atlas-SNP	.											.	METTL22	23	.	0			c.T820C						.						162.0	162.0	162.0					16																	8735035		1950	4142	6092	SO:0001583	missense	79091	exon7			GACCTCTGCACAG	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.820T>C	chr16.hg19:g.8735035T>C	ENSP00000371345:p.Cys274Arg	238.0	0.0		60.0	4.0	NM_024109	B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	hg19	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641694	0.29157	.	.	ENSG00000067365	ENST00000381920	T	0.39592	1.07	4.98	4.98	0.66077	.	0.122272	0.56097	D	0.000025	T	0.36413	0.0966	L	0.56124	1.755	0.80722	D	1	B;P	0.39551	0.267;0.678	B;B	0.38500	0.062;0.275	T	0.12656	-1.0539	10	0.13108	T	0.6	-16.8399	12.0339	0.53415	0.0:0.0:0.0:1.0	.	49;274	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	R	274	ENSP00000371345:C274R	ENSP00000371345:C274R	C	+	1	0	METTL22	8642536	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.670000	0.54569	1.880000	0.54463	0.459000	0.35465	TGC	.	.		0.453	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109	
ACSM1	116285	hgsc.bcm.edu	37	16	20638583	20638583	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:20638583T>C	ENST00000307493.4	-	10	1422	c.1355A>G	c.(1354-1356)gAc>gGc	p.D452G	ACSM1_ENST00000520010.1_Missense_Mutation_p.D452G|ACSM1_ENST00000219151.4_Missense_Mutation_p.D103G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	452					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTACCTCTGTCCCCAGTGTT	0.493																																					p.D452G		Atlas-SNP	.											.	ACSM1	118	.	0			c.A1355G						.						370.0	363.0	365.0					16																	20638583		2201	4300	6501	SO:0001583	missense	116285	exon10			CCTCTGTCCCCAG	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1355A>G	chr16.hg19:g.20638583T>C	ENSP00000301956:p.Asp452Gly	204.0	0.0		63.0	4.0	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	hg19	CCDS10587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.95|13.95	2.390732|2.390732	0.42410|0.42410	.|.	.|.	ENSG00000166743|ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010|ENST00000524149	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	4.22|4.22	4.22|4.22	0.49857|0.49857	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.56097|.	D|.	0.000038|.	D|D	0.84229|0.84229	0.5426|0.5426	M|M	0.93854|0.93854	3.465|3.465	0.48632|0.48632	D|D	0.99968|0.99968	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88282|0.88282	0.2937|0.2937	10|5	0.87932|.	D|.	0|.	.|.	12.7057|12.7057	0.57060|0.57060	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	452|.	Q08AH1|.	ACSM1_HUMAN|.	G|A	452;103;452|124	ENSP00000301956:D452G;ENSP00000219151:D103G;ENSP00000428047:D452G|.	ENSP00000219151:D103G|.	D|T	-|-	2|1	0|0	ACSM1|ACSM1	20546084|20546084	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.005000|0.005000	0.04900|0.04900	5.759000|5.759000	0.68785|0.68785	1.898000|1.898000	0.54952|0.54952	0.533000|0.533000	0.62120|0.62120	GAC|ACA	.	.		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
USP31	57478	hgsc.bcm.edu	37	16	23093795	23093795	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:23093795A>G	ENST00000219689.7	-	12	1913	c.1914T>C	c.(1912-1914)ccT>ccC	p.P638P		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	289	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TAAGCACATCAGGCAGAGTCC	0.478																																					p.P638P		Atlas-SNP	.											.	USP31	122	.	0			c.T1914C						.						104.0	92.0	96.0					16																	23093795		2197	4300	6497	SO:0001819	synonymous_variant	57478	exon12			CACATCAGGCAGA	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1914T>C	chr16.hg19:g.23093795A>G		186.0	0.0		69.0	4.0	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	hg19	CCDS10607.1																																																																																			.	.		0.478	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
TNRC6A	27327	hgsc.bcm.edu	37	16	24834278	24834278	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:24834278T>C	ENST00000395799.3	+	24	5586	c.5457T>C	c.(5455-5457)gcT>gcC	p.A1819A	TNRC6A_ENST00000315183.7_Silent_p.A1770A|TNRC6A_ENST00000432286.2_Silent_p.A297A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1819	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACGGAAATGCTCTGGTCCGCT	0.527																																					p.A1819A		Atlas-SNP	.											.	TNRC6A	171	.	0			c.T5457C						.						138.0	116.0	123.0					16																	24834278		2197	4300	6497	SO:0001819	synonymous_variant	27327	exon24			AAATGCTCTGGTC	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5457T>C	chr16.hg19:g.24834278T>C		181.0	0.0		67.0	4.0	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	t	11.23	1.577466	0.28180	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.0	-3.21	0.05140	.	.	.	.	.	T	0.39682	0.1087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34153	-0.9840	4	.	.	.	-6.313	2.6145	0.04900	0.2298:0.068:0.2108:0.4914	.	.	.	.	P	710	.	.	S	+	1	0	TNRC6A	24741779	0.558000	0.26554	0.955000	0.39395	0.996000	0.88848	0.181000	0.16880	-0.358000	0.08162	0.529000	0.55759	TCT	.	.		0.527	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
CORO1A	11151	hgsc.bcm.edu	37	16	30199817	30199817	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:30199817A>G	ENST00000219150.5	+	10	1506	c.1201A>G	c.(1201-1203)Agc>Ggc	p.S401G	CORO1A_ENST00000570045.1_Missense_Mutation_p.S401G|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	401					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCCCCAAAGAGCCGGGAGCT	0.701																																					p.S401G		Atlas-SNP	.											.	CORO1A	36	.	0			c.A1201G						.						21.0	25.0	23.0					16																	30199817		2196	4300	6496	SO:0001583	missense	11151	exon10			CCAAAGAGCCGGG	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1201A>G	chr16.hg19:g.30199817A>G	ENSP00000219150:p.Ser401Gly	224.0	0.0		89.0	4.0	NM_007074	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	hg19	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	14.37	2.516387	0.44763	.	.	ENSG00000102879	ENST00000219150	T	0.61627	0.09	4.96	4.96	0.65561	.	0.405411	0.25497	N	0.030262	T	0.54191	0.1843	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51301	-0.8723	10	0.29301	T	0.29	-3.8771	13.7669	0.63002	1.0:0.0:0.0:0.0	.	401	P31146	COR1A_HUMAN	G	401	ENSP00000219150:S401G	ENSP00000219150:S401G	S	+	1	0	CORO1A	30107318	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.084000	0.64462	2.082000	0.62665	0.459000	0.35465	AGC	.	.		0.701	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074	
SIAH1	6477	hgsc.bcm.edu	37	16	48395979	48395979	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:48395979A>G	ENST00000380006.2	-	1	1814	c.361T>C	c.(361-363)Tgt>Cgt	p.C121R	SIAH1_ENST00000356721.3_Missense_Mutation_p.C152R|SIAH1_ENST00000394725.2_Missense_Mutation_p.C121R|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	121	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAAACTCACAGAGCTCTTCA	0.468																																					p.C152R		Atlas-SNP	.											SIAH1_ENST00000356721,NS,malignant_melanoma,0,2	SIAH1	33	.	0			c.T454C						.						83.0	61.0	69.0					16																	48395979		2200	4300	6500	SO:0001583	missense	6477	exon2			ACTCACAGAGCTC	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.361T>C	chr16.hg19:g.48395979A>G	ENSP00000369343:p.Cys121Arg	141.0	0.0		47.0	2.0	NM_001006610	A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	hg19	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453642	0.63290	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.69926	-0.44;-0.44	5.2	5.2	0.72013	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	U	0.000000	D	0.87341	0.6153	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91347	0.5101	10	0.72032	D	0.01	-7.0567	15.3506	0.74380	1.0:0.0:0.0:0.0	.	121;152	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	R	152;121;137	ENSP00000349156:C152R;ENSP00000378214:C121R	ENSP00000349156:C152R	C	-	1	0	SIAH1	46953480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.094000	0.63399	0.533000	0.62120	TGT	.	.		0.468	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12		
BRD7	29117	hgsc.bcm.edu	37	16	50367608	50367609	+	Splice_Site	DNP	CC	CC	AT			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:50367608_50367609CC>AT	ENST00000394688.3	-	8	1047	c.888_888GG>AT	c.(886-888)aaGG>aaATg	p.K296K	BRD7_ENST00000394689.2_Splice_Site_p.K296K			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	296					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTTTGTCTTTCCTGAAAATATA	0.312																																					p.K296N|.		Atlas-SNP	.											.	BRD7	61	.	0			c.G888T|c.888-1G>A						.																																			SO:0001630	splice_region_variant	29117	exon8|exon9			GTCTTTCCTGAAA|TCTTTCCTGAAAA	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.888_888delinsAT	chr16.hg19:g.50367608_50367609delinsAT		131.0|129.0	0.0		50.0|49.0	35.0	NM_013263|NM_001173984	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation|Splice_Site	SNP	ENST00000394688.3	hg19	CCDS10742.1																																																																																			.	.		0.312	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	Silent
RBL2	5934	hgsc.bcm.edu	37	16	53496562	53496562	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:53496562T>C	ENST00000262133.6	+	11	1692	c.1555T>C	c.(1555-1557)Tta>Cta	p.L519L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.L303L	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	519	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGACATGGATTTATCTGTGAG	0.333																																					p.L519L		Atlas-SNP	.											.	RBL2	115	.	0			c.T1555C						.						57.0	60.0	59.0					16																	53496562		2198	4297	6495	SO:0001819	synonymous_variant	5934	exon11			ATGGATTTATCTG	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1555T>C	chr16.hg19:g.53496562T>C		181.0	0.0		65.0	4.0	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	hg19	CCDS10748.1																																																																																			.	.		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
IRX5	10265	hgsc.bcm.edu	37	16	54966777	54966777	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:54966777A>G	ENST00000394636.4	+	2	954	c.617A>G	c.(616-618)aAg>aGg	p.K206R	IRX5_ENST00000558597.1_Missense_Mutation_p.K140R|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Missense_Mutation_p.K206R|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	206					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GAGCCCCAGAAGCCCGAGGAC	0.597																																					p.K206R		Atlas-SNP	.											.	IRX5	41	.	0			c.A617G						.						70.0	87.0	81.0					16																	54966777		2198	4300	6498	SO:0001583	missense	10265	exon2			CCCAGAAGCCCGA	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.617A>G	chr16.hg19:g.54966777A>G	ENSP00000378132:p.Lys206Arg	251.0	0.0		91.0	4.0	NM_001252197	H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	hg19	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733876	0.69189	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.60424	0.29;0.19	4.14	4.14	0.48551	.	0.546743	0.18273	N	0.146243	T	0.63628	0.2527	L	0.56199	1.76	0.80722	D	1	D	0.61697	0.99	P	0.57101	0.813	T	0.59075	-0.7522	10	0.23302	T	0.38	-12.0352	12.2645	0.54670	1.0:0.0:0.0:0.0	.	206	P78411	IRX5_HUMAN	R	206	ENSP00000378132:K206R;ENSP00000316250:K206R	ENSP00000316250:K206R	K	+	2	0	IRX5	53524278	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.204000	0.77872	1.724000	0.51502	0.533000	0.62120	AAG	.	.		0.597	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2		
TMED6	146456	hgsc.bcm.edu	37	16	69381728	69381728	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:69381728T>C	ENST00000288025.3	-	3	507	c.452A>G	c.(451-453)gAa>gGa	p.E151G	RP11-343C2.7_ENST00000564737.1_Silent_p.G143G|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	151					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTGTTTTCTTTCCTTCTGTTT	0.408																																					p.E151G		Atlas-SNP	.											.	TMED6	19	.	0			c.A452G						.						285.0	270.0	275.0					16																	69381728		2198	4300	6498	SO:0001583	missense	146456	exon3			TTTCTTTCCTTCT	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.452A>G	chr16.hg19:g.69381728T>C	ENSP00000288025:p.Glu151Gly	381.0	0.0		123.0	6.0	NM_144676	Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	hg19	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308662	0.81247	.	.	ENSG00000157315	ENST00000288025	T	0.18810	2.19	5.2	5.2	0.72013	GOLD (1);	0.623514	0.17351	N	0.177413	T	0.26882	0.0658	M	0.68952	2.095	0.46416	D	0.999031	B	0.11235	0.004	B	0.15052	0.012	T	0.02966	-1.1088	10	0.37606	T	0.19	-4.0412	15.354	0.74412	0.0:0.0:0.0:1.0	.	151	Q8WW62	TMED6_HUMAN	G	151	ENSP00000288025:E151G	ENSP00000288025:E151G	E	-	2	0	TMED6	67939229	1.000000	0.71417	0.952000	0.39060	0.942000	0.58702	4.156000	0.58138	2.090000	0.63153	0.533000	0.62120	GAA	.	.		0.408	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676	
AP1G1	164	hgsc.bcm.edu	37	16	71779499	71779499	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:71779499T>C	ENST00000299980.4	-	18	2190	c.1749A>G	c.(1747-1749)agA>agG	p.R583R	AP1G1_ENST00000569748.1_Silent_p.R583R|AP1G1_ENST00000393512.3_Silent_p.R586R|AP1G1_ENST00000423132.2_Silent_p.R586R|AP1G1_ENST00000564155.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R606R	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	583					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGACAGGCATTCTCTCAAGTA	0.448																																					p.R586R		Atlas-SNP	.											.	AP1G1	83	.	0			c.A1758G						.						163.0	157.0	159.0					16																	71779499		2198	4300	6498	SO:0001819	synonymous_variant	164	exon19			AGGCATTCTCTCA	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1749A>G	chr16.hg19:g.71779499T>C		195.0	0.0		79.0	4.0	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	hg19	CCDS32480.1																																																																																			.	.		0.448	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
AP1G1	164	hgsc.bcm.edu	37	16	71798318	71798318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:71798318C>A	ENST00000299980.4	-	9	1294	c.853G>T	c.(853-855)Gga>Tga	p.G285*	AP1G1_ENST00000569748.1_Nonsense_Mutation_p.G285*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.G288*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.G288*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.G308*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATAGCATTTCCTACATTTTTA	0.363																																					p.G288X		Atlas-SNP	.											.	AP1G1	83	.	0			c.G862T						.						84.0	75.0	78.0					16																	71798318		2197	4300	6497	SO:0001587	stop_gained	164	exon10			CATTTCCTACATT	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.853G>T	chr16.hg19:g.71798318C>A	ENSP00000299980:p.Gly285*	255.0	0.0		85.0	65.0	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Nonsense_Mutation	SNP	ENST00000299980.4	hg19	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	46	12.949327	0.99708	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.4855	19.7714	0.96367	0.0:1.0:0.0:0.0	.	.	.	.	X	285;288;288;308;156;370	.	ENSP00000299980:G285X	G	-	1	0	AP1G1	70355819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GGA	.	.		0.363	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
ZNF469	84627	hgsc.bcm.edu	37	16	88505541	88505541	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:88505541A>G	ENST00000437464.1	+	2	11579	c.11579A>G	c.(11578-11580)aAg>aGg	p.K3860R	ZNF469_ENST00000565624.1_Missense_Mutation_p.K3888R	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3860					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						ACACAGAGGAAGGACAGACTG	0.672																																					p.K3860R		Atlas-SNP	.											.	ZNF469	121	.	0			c.A11579G						.						70.0	90.0	84.0					16																	88505541		692	1591	2283	SO:0001583	missense	84627	exon2			AGAGGAAGGACAG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.11579A>G	chr16.hg19:g.88505541A>G	ENSP00000402343:p.Lys3860Arg	192.0	0.0		57.0	4.0	NM_001127464		Missense_Mutation	SNP	ENST00000437464.1	hg19	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	A	8.504	0.864876	0.17250	.	.	ENSG00000225614	ENST00000437464	T	0.08370	3.1	4.99	-3.67	0.04476	.	.	.	.	.	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B	0.32467	0.372	B	0.25614	0.062	T	0.34354	-0.9832	9	0.87932	D	0	-4.3508	6.741	0.23435	0.3992:0.1452:0.4556:0.0	.	3860	Q96JG9	ZN469_HUMAN	R	3860	ENSP00000402343:K3860R	ENSP00000402343:K3860R	K	+	2	0	ZNF469	87033042	0.958000	0.32768	0.000000	0.03702	0.022000	0.10575	0.968000	0.29357	-1.070000	0.03149	-0.379000	0.06801	AAG	.	.		0.672	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ARRB2	409	hgsc.bcm.edu	37	17	4624255	4624255	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:4624255A>G	ENST00000269260.2	+	15	1384	c.1151A>G	c.(1150-1152)gAt>gGt	p.D384G	ARRB2_ENST00000571206.1_Missense_Mutation_p.D192G|ARRB2_ENST00000574954.1_Missense_Mutation_p.D192G|ARRB2_ENST00000412477.3_Missense_Mutation_p.D405G|ARRB2_ENST00000346341.2_Missense_Mutation_p.D381G|ARRB2_ENST00000572457.1_Missense_Mutation_p.D192G|ARRB2_ENST00000381488.6_Missense_Mutation_p.D369G|ARRB2_ENST00000575877.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	384	Interaction with AP2B1.|Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GCCACAGATGATGACATTGTG	0.567																																					p.D405G		Atlas-SNP	.											.	ARRB2	30	.	0			c.A1214G						.						192.0	149.0	164.0					17																	4624255		2203	4300	6503	SO:0001583	missense	409	exon15			CAGATGATGACAT		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1151A>G	chr17.hg19:g.4624255A>G	ENSP00000269260:p.Asp384Gly	197.0	0.0		97.0	4.0	NM_001257328	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	hg19	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036839	0.35893	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T	0.20738	2.05	4.16	4.16	0.48862	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.52126	1.63	0.80722	D	1	B;P;P;B;B	0.39131	0.044;0.661;0.661;0.016;0.185	B;B;B;B;B	0.42798	0.048;0.398;0.398;0.024;0.109	T	0.03739	-1.1008	10	0.66056	D	0.02	-12.6481	11.4482	0.50136	1.0:0.0:0.0:0.0	.	405;381;396;369;384	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	G	396;384;369;385	ENSP00000269260:D384G	ENSP00000269260:D384G	D	+	2	0	ARRB2	4571004	1.000000	0.71417	0.504000	0.27639	0.438000	0.31896	6.685000	0.74543	1.885000	0.54596	0.450000	0.29827	GAT	.	.		0.567	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313	
PITPNM3	83394	hgsc.bcm.edu	37	17	6377793	6377793	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:6377793A>C	ENST00000262483.8	-	10	1304	c.1217T>G	c.(1216-1218)cTg>cGg	p.L406R	PITPNM3_ENST00000576664.1_5'Flank|PITPNM3_ENST00000421306.3_Missense_Mutation_p.L370R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	406	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCCAGGACCAGGCCCAGTGG	0.687																																					p.L406R		Atlas-SNP	.											.	PITPNM3	91	.	0			c.T1217G						.						40.0	35.0	37.0					17																	6377793		2203	4299	6502	SO:0001583	missense	83394	exon10			AGGACCAGGCCCA	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1217T>G	chr17.hg19:g.6377793A>C	ENSP00000262483:p.Leu406Arg	201.0	0.0		115.0	5.0	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	hg19	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567773	0.86439	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.53857	0.61;0.6	5.13	5.13	0.70059	DDHD (2);	0.000000	0.64402	D	0.000001	T	0.74245	0.3691	M	0.84683	2.71	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.79077	-0.1951	10	0.87932	D	0	-18.6258	12.8851	0.58038	1.0:0.0:0.0:0.0	.	370;406	F8WEW5;Q9BZ71	.;PITM3_HUMAN	R	406;370	ENSP00000262483:L406R;ENSP00000407882:L370R	ENSP00000262483:L406R	L	-	2	0	PITPNM3	6318517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.693000	0.91288	1.926000	0.55796	0.460000	0.39030	CTG	.	.		0.687	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
ASGR2	433	hgsc.bcm.edu	37	17	7011175	7011175	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:7011175T>C	ENST00000380952.2	-	5	668	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	ASGR2_ENST00000254850.7_Missense_Mutation_p.Q111R|ASGR2_ENST00000446679.2_Missense_Mutation_p.Q116R|ASGR2_ENST00000355035.5_Missense_Mutation_p.Q135R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	135					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GTCCTGCTGCTGTTTCTCCAG	0.602																																					p.Q135R		Atlas-SNP	.											.	ASGR2	38	.	0			c.A404G						.						277.0	169.0	206.0					17																	7011175		2203	4300	6503	SO:0001583	missense	433	exon5			TGCTGCTGTTTCT	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.404A>G	chr17.hg19:g.7011175T>C	ENSP00000370339:p.Gln135Arg	195.0	0.0		120.0	6.0	NM_080912	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	hg19	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748814	0.30955	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	3.46	1.01	0.19927	Hepatic lectin, N-terminal (1);	0.700616	0.11929	N	0.515868	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	P;P;B;P;P;P	0.43352	0.704;0.617;0.203;0.589;0.766;0.804	B;B;B;B;B;P	0.47346	0.388;0.121;0.221;0.405;0.283;0.544	T	0.22103	-1.0226	10	0.15499	T	0.54	.	5.7864	0.18336	0.4399:0.0:0.0:0.5601	.	111;111;135;130;116;135	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;.;ASGR2_HUMAN;.;.;.	R	135;111;135;116;111	ENSP00000347140:Q135R;ENSP00000254850:Q111R;ENSP00000370339:Q135R;ENSP00000405844:Q116R	ENSP00000254850:Q111R	Q	-	2	0	ASGR2	6951899	0.006000	0.16342	0.266000	0.24541	0.420000	0.31355	0.716000	0.25836	0.152000	0.19188	0.496000	0.49642	CAG	.	.		0.602	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914	
TMEM95	339168	hgsc.bcm.edu	37	17	7258602	7258602	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:7258602T>C	ENST00000576060.1	+	1	106	c.79T>C	c.(79-81)Ttg>Ctg	p.L27L	TMEM95_ENST00000389982.4_Silent_p.L27L|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Silent_p.L27L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	27						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				AGCCCACGACTTGTCAGGCCG	0.652																																					p.L27L		Atlas-SNP	.											.	TMEM95	11	.	0			c.T79C						.						30.0	32.0	32.0					17																	7258602		2203	4300	6503	SO:0001819	synonymous_variant	339168	exon1			CACGACTTGTCAG		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.79T>C	chr17.hg19:g.7258602T>C		123.0	0.0		68.0	5.0	NM_198154	B7WPI7|Q6UXT3|Q8IW68	Silent	SNP	ENST00000576060.1	hg19																																																																																				.	.		0.652	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319654	21319654	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:21319654G>A	ENST00000583088.1	+	3	1895	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E334K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	334				Missing (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCTCTTCGAGGAGAAGAACCA	0.577										Prostate(3;0.18)																											p.E334K		Atlas-SNP	.											.	.	.	.	0			c.G1000A						.						153.0	154.0	154.0					17																	21319654		2203	4300	6503	SO:0001583	missense	100134444	exon3			TTCGAGGAGAAGA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1000G>A	chr17.hg19:g.21319654G>A	ENSP00000463778:p.Glu334Lys	294.0	0.0		169.0	8.0	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866216	0.71949	.	.	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	L	0.41632	1.29	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	D	0.85181	0.1004	10	0.66056	D	0.02	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	334	Q14500	IRK12_HUMAN	K	334	ENSP00000328150:E334K	ENSP00000328150:E334K	E	+	1	0	KCNJ12	21260247	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.698000	0.98700	2.732000	0.93576	0.655000	0.94253	GAG	.	.		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
NF1	4763	hgsc.bcm.edu	37	17	29559883	29559883	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:29559883T>C	ENST00000358273.4	+	26	3863	c.3480T>C	c.(3478-3480)ggT>ggC	p.G1160G	NF1_ENST00000356175.3_Silent_p.G1160G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1160					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGACAGTGGTCTCATGCACT	0.453			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.G1160G		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	c.T3480C						.						91.0	73.0	79.0					17																	29559883		2203	4300	6503	SO:0001819	synonymous_variant	4763	exon26	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CAGTGGTCTCATG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3480T>C	chr17.hg19:g.29559883T>C		120.0	0.0		71.0	4.0	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	hg19	CCDS42292.1																																																																																			.	.		0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
UNC45B	146862	hgsc.bcm.edu	37	17	33495162	33495162	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:33495162C>G	ENST00000268876.5	+	10	1331	c.1234C>G	c.(1234-1236)Ctg>Gtg	p.L412V	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.L412V|UNC45B_ENST00000591048.1_Missense_Mutation_p.L412V|UNC45B_ENST00000378449.1_Missense_Mutation_p.L412V|UNC45B_ENST00000394570.2_Missense_Mutation_p.L412V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	412					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCCCTTTGACCTGGGCAACCA	0.577																																					p.L412V		Atlas-SNP	.											.	UNC45B	133	.	0			c.C1234G						.						99.0	81.0	87.0					17																	33495162		2203	4300	6503	SO:0001583	missense	146862	exon10			TTTGACCTGGGCA	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1234C>G	chr17.hg19:g.33495162C>G	ENSP00000268876:p.Leu412Val	241.0	0.0		121.0	53.0	NM_001267052	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	hg19	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	1.551	-0.539168	0.04053	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.02	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.068819	0.64402	D	0.000019	T	0.18045	0.0433	N	0.05078	-0.115	0.27112	N	0.962358	B;B;B	0.23128	0.08;0.002;0.001	B;B;B	0.25140	0.058;0.01;0.012	T	0.25467	-1.0131	10	0.02654	T	1	-15.046	9.4724	0.38851	0.0:0.8216:0.0:0.1784	.	412;412;412	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	412	ENSP00000378071:L412V;ENSP00000268876:L412V;ENSP00000412840:L412V;ENSP00000367710:L412V	ENSP00000268876:L412V	L	+	1	2	UNC45B	30519275	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	0.642000	0.24735	1.484000	0.48361	-0.137000	0.14449	CTG	.	.		0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
KRTAP4-6	81871	hgsc.bcm.edu	37	17	39296198	39296198	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:39296198T>A	ENST00000345847.4	-	1	541	c.542A>T	c.(541-543)cAc>cTc	p.H181L		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	181						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAAGTGGTGTGGCAGGAGAC	0.632																																					p.H181L		Atlas-SNP	.											.	KRTAP4-6	46	.	0			c.A542T						.																																			SO:0001583	missense	81871	exon1			GTGGTGTGGCAGG	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.542A>T	chr17.hg19:g.39296198T>A	ENSP00000328270:p.His181Leu	316.0	0.0		181.0	65.0	NM_030976	Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	hg19	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	5.877	0.345916	0.11126	.	.	ENSG00000198090	ENST00000345847	T	0.00584	6.4	3.66	2.58	0.30949	.	0.749098	0.10888	U	0.623037	T	0.01254	0.0041	M	0.79123	2.44	0.23459	N	0.997632	.	.	.	.	.	.	T	0.43925	-0.9361	8	0.59425	D	0.04	.	3.1069	0.06345	0.2092:0.1136:0.0:0.6772	.	.	.	.	L	181	ENSP00000328270:H181L	ENSP00000328270:H181L	H	-	2	0	KRTAP4-6	36549724	0.001000	0.12720	0.831000	0.32960	0.033000	0.12548	-0.235000	0.09016	0.783000	0.33636	0.456000	0.33151	CAC	.	.		0.632	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1		
DNAJC7	7266	hgsc.bcm.edu	37	17	40128753	40128753	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:40128753A>G	ENST00000457167.4	-	14	1719	c.1483T>C	c.(1483-1485)Taa>Caa	p.*495Q	CNP_ENST00000393892.3_3'UTR|DNAJC7_ENST00000316603.7_Nonstop_Mutation_p.*439Q|DNAJC7_ENST00000426588.3_Nonstop_Mutation_p.*439Q	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	0					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GCCCTTCATTAGCCAAATTGA	0.433																																					p.X495Q	Colon(63;618 1117 8600 10857 19751)	Atlas-SNP	.											.	DNAJC7	51	.	0			c.T1483C						.						156.0	147.0	150.0					17																	40128753		1848	4093	5941	SO:0001578	stop_lost	7266	exon14			TTCATTAGCCAAA	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1483T>C	chr17.hg19:g.40128753A>G	ENSP00000406463:p.*495Gluext*1	140.0	0.0		72.0	4.0	NM_003315	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	hg19	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673359	0.88445	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.22858	N	0.998641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	Q	495;439;439	.	.	X	-	1	0	DNAJC7	37382279	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.935000	0.92923	2.274000	0.75844	0.533000	0.62120	TAA	.	.		0.433	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2		
EZH1	2145	hgsc.bcm.edu	37	17	40857131	40857131	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:40857131T>C	ENST00000428826.2	-	17	2031	c.1910A>G	c.(1909-1911)gAa>gGa	p.E637G	EZH1_ENST00000585893.1_Missense_Mutation_p.E597G|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000415827.2_Missense_Mutation_p.E628G|EZH1_ENST00000590078.1_Missense_Mutation_p.E567G|EZH1_ENST00000592743.1_Missense_Mutation_p.E637G|EZH1_ENST00000435174.1_Missense_Mutation_p.E498G			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	637	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AGAAATGAATTCGTTCTTCTG	0.527																																					p.E637G		Atlas-SNP	.											.	EZH1	62	.	0			c.A1910G						.						98.0	91.0	93.0					17																	40857131		2203	4300	6503	SO:0001583	missense	2145	exon17			ATGAATTCGTTCT		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1910A>G	chr17.hg19:g.40857131T>C	ENSP00000404658:p.Glu637Gly	135.0	0.0		97.0	5.0	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936096	0.92458	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.85702	-2.02;-2.02	5.41	5.41	0.78517	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.996;0.989;0.989;0.997	D;D;D;D;D	0.73708	0.948;0.967;0.948;0.913;0.981	D	0.93869	0.7160	10	0.87932	D	0	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	498;597;643;567;637	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	G	640;637;597;498	ENSP00000404658:E637G;ENSP00000404071:E498G	ENSP00000264646:E640G	E	-	2	0	EZH1	38110657	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.864000	0.87037	2.261000	0.74972	0.460000	0.39030	GAA	.	.		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
FMNL1	752	hgsc.bcm.edu	37	17	43317843	43317843	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:43317843A>G	ENST00000331495.3	+	12	1417	c.1081A>G	c.(1081-1083)Agg>Ggg	p.R361G	FMNL1_ENST00000587489.1_5'Flank|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Splice_Site_p.R361G|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	361	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGGGACAGAGGCTTCGGCT	0.602																																					p.R361G	GBM(164;1247 1997 8702 11086 51972)	Atlas-SNP	.											.	FMNL1	78	.	0			c.A1081G						.						65.0	63.0	64.0					17																	43317843		2203	4300	6503	SO:0001630	splice_region_variant	752	exon12			GGACAGAGGCTTC	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1081-1A>G	chr17.hg19:g.43317843A>G		151.0	0.0		81.0	4.0	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	hg19	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640585	0.29157	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	D;D	0.83673	-1.75;-1.75	3.87	2.75	0.32379	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.775970	0.12561	N	0.458141	T	0.76891	0.4051	L	0.52011	1.625	0.45962	D	0.998781	B	0.14012	0.009	B	0.22152	0.038	T	0.65936	-0.6047	9	.	.	.	.	8.3816	0.32474	0.8016:0.1984:0.0:0.0	.	361	O95466	FMNL_HUMAN	G	361;361;79	ENSP00000327442:R361G;ENSP00000329219:R361G	.	R	+	1	2	FMNL1	40673626	1.000000	0.71417	0.998000	0.56505	0.330000	0.28571	5.529000	0.67135	0.623000	0.30267	0.172000	0.16884	AGG	.	.		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	Missense_Mutation
CDC27	996	hgsc.bcm.edu	37	17	45247316	45247316	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:45247316C>T	ENST00000066544.3	-	4	437	c.344G>A	c.(343-345)tGc>tAc	p.C115Y	CDC27_ENST00000446365.2_Missense_Mutation_p.C54Y|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.C115Y|CDC27_ENST00000527547.1_Missense_Mutation_p.C115Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAGAGTAAAGCAAGCTGAATC	0.328																																					p.C115Y		Atlas-SNP	.											.	CDC27	337	.	0			c.G344A						.						85.0	87.0	86.0					17																	45247316		2203	4299	6502	SO:0001583	missense	996	exon4			GTAAAGCAAGCTG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.344G>A	chr17.hg19:g.45247316C>T	ENSP00000066544:p.Cys115Tyr	84.0	0.0		60.0	4.0	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	hg19	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827908|3.827908	0.71143|0.71143	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000533415|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.|T;T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77;-0.77	5.35|5.35	4.36|4.36	0.52297|0.52297	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.286342	.|0.39834	.|N	.|0.001241	T|T	0.80204|0.80204	0.4580|0.4580	L|L	0.49778|0.49778	1.585|1.585	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D	.|0.65815	.|0.989;0.989;0.995;0.991	.|P;P;P;P	.|0.60345	.|0.832;0.814;0.861;0.873	T|T	0.82180|0.82180	-0.0585|-0.0585	6|10	0.66056|0.72032	D|D	0.02|0.01	-23.7538|-23.7538	13.94|13.94	0.64048|0.64048	0.0:0.8464:0.1536:0.0|0.0:0.8464:0.1536:0.0	.|.	.|54;115;115;115	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	T|Y	66|115;115;54;115;115	.|ENSP00000066544:C115Y;ENSP00000434614:C115Y;ENSP00000392802:C54Y;ENSP00000437339:C115Y;ENSP00000432105:C115Y	ENSP00000432211:A66T|ENSP00000066544:C115Y	A|C	-|-	1|2	0|0	CDC27|CDC27	42602315|42602315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.960000|4.960000	0.63673|0.63673	1.350000|1.350000	0.45770|0.45770	0.655000|0.655000	0.94253|0.94253	GCT|TGC	.	.		0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
COL1A1	1277	hgsc.bcm.edu	37	17	48271982	48271982	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:48271982T>C	ENST00000225964.5	-	22	1585	c.1467A>G	c.(1465-1467)ggA>ggG	p.G489G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	489	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGCTACCAGGTCCACCCTGCA	0.662			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.G489G		Atlas-SNP	.		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	COL1A1	158	.	0			c.A1467G						.						34.0	35.0	34.0					17																	48271982		2177	4266	6443	SO:0001819	synonymous_variant	1277	exon22			ACCAGGTCCACCC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1467A>G	chr17.hg19:g.48271982T>C		108.0	0.0		47.0	4.0	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	hg19	CCDS11561.1																																																																																			.	.		0.662	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
KIF2B	84643	hgsc.bcm.edu	37	17	51901304	51901304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:51901304C>T	ENST00000268919.4	+	1	1066	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	304	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCCTATGGGCAGACGGGAAG	0.552																																					p.Q304X		Atlas-SNP	.											KIF2B,colon,carcinoma,0,1	KIF2B	254	.	0			c.C910T						.						93.0	84.0	87.0					17																	51901304		2203	4300	6503	SO:0001587	stop_gained	84643	exon1			TATGGGCAGACGG	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.910C>T	chr17.hg19:g.51901304C>T	ENSP00000268919:p.Gln304*	121.0	0.0		61.0	3.0	NM_032559	Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	38	6.660945	0.97743	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.52	5.52	0.82312	.	0.000000	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	.	.	.	X	304;192	.	ENSP00000268919:Q304X	Q	+	1	0	KIF2B	49256303	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.776000	0.85560	2.739000	0.93911	0.655000	0.94253	CAG	.	.		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
PRR11	55771	hgsc.bcm.edu	37	17	57262914	57262914	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:57262914A>G	ENST00000262293.4	+	4	705	c.393A>G	c.(391-393)gaA>gaG	p.E131E		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	131						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCTCCAGGAAGCACTGAAGG	0.368																																					p.E131E		Atlas-SNP	.											.	PRR11	36	.	0			c.A393G						.						64.0	64.0	64.0					17																	57262914		2203	4300	6503	SO:0001819	synonymous_variant	55771	exon4			CCAGGAAGCACTG		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.393A>G	chr17.hg19:g.57262914A>G		177.0	0.0		99.0	4.0	NM_018304	Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	hg19	CCDS11614.1																																																																																			.	.		0.368	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304	
ABCA6	23460	hgsc.bcm.edu	37	17	67119418	67119418	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:67119418T>C	ENST00000284425.2	-	10	1572	c.1398A>G	c.(1396-1398)gaA>gaG	p.E466E		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	466					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGCTACTGGTTCAAAATAAT	0.348																																					p.E466E		Atlas-SNP	.											.	ABCA6	210	.	0			c.A1398G						.						104.0	100.0	102.0					17																	67119418		2203	4300	6503	SO:0001819	synonymous_variant	23460	exon10			TACTGGTTCAAAA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1398A>G	chr17.hg19:g.67119418T>C		77.0	0.0		59.0	4.0	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	hg19	CCDS11683.1																																																																																			.	.		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	hgsc.bcm.edu	37	17	67189275	67189275	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:67189275T>C	ENST00000269081.4	-	16	2665	c.1756A>G	c.(1756-1758)Atg>Gtg	p.M586V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	586	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCCTCATCCATGAATTGGGTA	0.418																																					p.M586V		Atlas-SNP	.											ABCA10,NS,carcinoma,0,1	ABCA10	209	.	0			c.A1756G						.						113.0	105.0	108.0					17																	67189275		2203	4300	6503	SO:0001583	missense	10349	exon16			CATCCATGAATTG	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1756A>G	chr17.hg19:g.67189275T>C	ENSP00000269081:p.Met586Val	72.0	0.0		48.0	2.0	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702727	0.30232	.	.	ENSG00000154263	ENST00000269081	T	0.39056	1.1	3.45	2.36	0.29203	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	T	0.33059	0.0850	L	0.41356	1.27	0.80722	D	1	P;P	0.36837	0.571;0.497	B;B	0.38378	0.272;0.188	T	0.08452	-1.0721	9	0.59425	D	0.04	.	7.7391	0.28831	0.0:0.1874:0.0:0.8126	.	586;586	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	V	586	ENSP00000269081:M586V	ENSP00000269081:M586V	M	-	1	0	ABCA10	64700870	1.000000	0.71417	0.686000	0.30086	0.796000	0.44982	3.675000	0.54605	0.413000	0.25759	0.460000	0.39030	ATG	.	.		0.418	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
SDK2	54549	hgsc.bcm.edu	37	17	71346476	71346476	+	Missense_Mutation	SNP	T	T	C	rs372386732		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:71346476T>C	ENST00000392650.3	-	43	5938	c.5938A>G	c.(5938-5940)Atg>Gtg	p.M1980V	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.M1961V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1980					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AAGCTCATCATCTCGCTGTGG	0.567																																					p.M1980V		Atlas-SNP	.											.	SDK2	219	.	0			c.A5938G						.						102.0	80.0	88.0					17																	71346476		2203	4300	6503	SO:0001583	missense	54549	exon43			TCATCATCTCGCT	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5938A>G	chr17.hg19:g.71346476T>C	ENSP00000376421:p.Met1980Val	154.0	0.0		90.0	4.0	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	hg19	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533253	0.27387	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58506	0.33;0.34;1.56	5.53	5.53	0.82687	.	0.043708	0.85682	D	0.000000	T	0.50820	0.1638	L	0.44542	1.39	0.48901	D	0.999727	B;B	0.17465	0.004;0.022	B;B	0.16289	0.003;0.015	T	0.44034	-0.9354	10	0.33141	T	0.24	.	15.3336	0.74234	0.0:0.0:0.0:1.0	.	1980;1961	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	V	1604;1980;1961;1137;1980;321	ENSP00000376421:M1980V;ENSP00000373378:M1961V;ENSP00000407098:M1137V	ENSP00000324967:M1980V	M	-	1	0	SDK2	68858071	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.748000	0.62148	2.103000	0.63969	0.528000	0.53228	ATG	.	.		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
RAB37	326624	hgsc.bcm.edu	37	17	72741169	72741169	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr17:72741169A>G	ENST00000392613.5	+	8	568	c.512A>G	c.(511-513)gAg>gGg	p.E171G	RAB37_ENST00000392615.5_Missense_Mutation_p.E139G|RAB37_ENST00000392610.1_Missense_Mutation_p.E171G|RAB37_ENST00000528438.1_Missense_Mutation_p.E144G|RAB37_ENST00000340415.3_Missense_Mutation_p.E164G|RAB37_ENST00000392612.3_Missense_Mutation_p.E134G|RAB37_ENST00000392614.4_Missense_Mutation_p.E176G|RAB37_ENST00000402449.4_Missense_Mutation_p.E164G|MIR3615_ENST00000585285.1_RNA	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	171					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCCTTCCTGGAGACCAGCGCC	0.622											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E176G		Atlas-SNP	.											.	RAB37	69	.	0			c.A527G						.						85.0	75.0	78.0					17																	72741169		2203	4300	6503	SO:0001583	missense	326624	exon8			TCCTGGAGACCAG	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.512A>G	chr17.hg19:g.72741169A>G	ENSP00000376389:p.Glu171Gly	171.0	0.0	1139	87.0	4.0	NM_001163989	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	hg19	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.987495	0.93106	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94598	0.8259	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.991;0.996;0.998;0.997;0.998;0.998	D	0.96486	0.9360	10	0.87932	D	0	.	14.3728	0.66852	1.0:0.0:0.0:0.0	.	134;139;176;164;171;164	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	G	164;164;164;144;139;176;171;134;171	ENSP00000341354:E164G;ENSP00000383934:E164G;ENSP00000432086:E144G;ENSP00000376391:E139G;ENSP00000376390:E176G;ENSP00000376389:E171G;ENSP00000376388:E134G;ENSP00000376387:E171G	ENSP00000341354:E164G	E	+	2	0	RAB37	70252764	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.818000	0.75257	2.100000	0.63781	0.448000	0.29417	GAG	.	.		0.622	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738	
EMILIN2	84034	hgsc.bcm.edu	37	18	2890914	2890914	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:2890914G>T	ENST00000254528.3	+	4	948	c.789G>T	c.(787-789)aaG>aaT	p.K263N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	263					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGACATCAAGTCTGAATTGG	0.498																																					p.K263N		Atlas-SNP	.											.	EMILIN2	97	.	0			c.G789T						.						47.0	50.0	49.0					18																	2890914		2203	4300	6503	SO:0001583	missense	84034	exon4			CATCAAGTCTGAA	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.789G>T	chr18.hg19:g.2890914G>T	ENSP00000254528:p.Lys263Asn	52.0	0.0		38.0	19.0	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	hg19	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481739	0.44147	.	.	ENSG00000132205	ENST00000254528	T	0.36520	1.25	5.41	2.68	0.31781	.	0.372434	0.27715	N	0.018149	T	0.33118	0.0852	M	0.67953	2.075	0.32429	N	0.548359	P	0.40376	0.715	B	0.41723	0.365	T	0.36553	-0.9743	10	0.25106	T	0.35	-22.8633	5.1566	0.15038	0.348:0.0:0.5202:0.1318	.	263	Q9BXX0	EMIL2_HUMAN	N	263	ENSP00000254528:K263N	ENSP00000254528:K263N	K	+	3	2	EMILIN2	2880914	1.000000	0.71417	0.978000	0.43139	0.918000	0.54935	3.208000	0.51114	0.267000	0.21916	0.557000	0.71058	AAG	.	.		0.498	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
LAMA1	284217	hgsc.bcm.edu	37	18	7034666	7034666	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:7034666T>C	ENST00000389658.3	-	14	1956	c.1863A>G	c.(1861-1863)acA>acG	p.T621T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	621	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCTCAGCCTGTGTGCTTAAAG	0.333																																					p.T621T		Atlas-SNP	.											.	LAMA1	458	.	0			c.A1863G						.						111.0	101.0	104.0					18																	7034666		2203	4300	6503	SO:0001819	synonymous_variant	284217	exon14			AGCCTGTGTGCTT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1863A>G	chr18.hg19:g.7034666T>C		110.0	0.0		86.0	5.0	NM_005559		Silent	SNP	ENST00000389658.3	hg19	CCDS32787.1																																																																																			.	.		0.333	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
SPIRE1	56907	hgsc.bcm.edu	37	18	12453068	12453068	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:12453068T>C	ENST00000409402.4	-	14	2113	c.1846A>G	c.(1846-1848)Agg>Ggg	p.R616G	SPIRE1_ENST00000453447.2_Splice_Site_p.R482G|SPIRE1_ENST00000410092.3_Splice_Site_p.R602G|SPIRE1_ENST00000309836.5_Splice_Site_p.R405G|SPIRE1_ENST00000383356.2_Splice_Site_p.S443G|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						ATACCTTACCTCTTACAGAAC	0.313																																					p.R616G		Atlas-SNP	.											.	SPIRE1	120	.	0			c.A1846G						.						51.0	54.0	53.0					18																	12453068		2203	4300	6503	SO:0001630	splice_region_variant	56907	exon14			CTTACCTCTTACA	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1847+1A>G	chr18.hg19:g.12453068T>C		126.0	0.0		91.0	4.0	NM_001128626		Missense_Mutation	SNP	ENST00000409402.4	hg19	CCDS45829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.301853|5.301853	0.95601|0.95601	.|.	.|.	ENSG00000134278|ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836|ENST00000383356	T;T;T;T|T	0.77489|0.76448	-1.1;-1.1;-1.1;-1.1|-1.02	5.95|5.95	5.95|5.95	0.96441|0.96441	Zinc finger, FYVE/PHD-type (1);|.	0.085644|.	0.85682|.	D|.	0.000000|.	D|D	0.86611|0.86611	0.5974|0.5974	M|M	0.80332|0.80332	2.49|2.49	0.35873|0.35873	D|D	0.828374|0.828374	D;D;D|.	0.69078|.	0.969;0.992;0.997|.	P;P;D|.	0.76575|.	0.856;0.888;0.988|.	D|D	0.90193|0.90193	0.4251|0.4251	10|6	0.87932|.	D|.	0|.	-10.5008|-10.5008	16.4177|16.4177	0.83748|0.83748	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	602;405;616|.	Q08AE8-2;B4DWX0;Q08AE8|.	.;.;SPIR1_HUMAN|.	G|G	482;616;602;405|443	ENSP00000407050:R482G;ENSP00000387266:R616G;ENSP00000387226:R602G;ENSP00000309661:R405G|ENSP00000372847:S443G	ENSP00000309661:R405G|.	R|S	-|-	1|1	2|0	SPIRE1|SPIRE1	12443068|12443068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.654000|5.654000	0.67974|0.67974	2.267000|2.267000	0.75376|0.75376	0.528000|0.528000	0.53228|0.53228	AGG|AGT	.	.		0.313	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	Missense_Mutation
ANKRD30B	374860	hgsc.bcm.edu	37	18	14748609	14748609	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:14748609T>C	ENST00000358984.4	+	1	371	c.191T>C	c.(190-192)gTc>gCc	p.V64A	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.V64A|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	64										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAAGCCCGTCAACCTGAAC	0.582																																					p.V64A		Atlas-SNP	.											.	ANKRD30B	237	.	0			c.T191C						.						47.0	44.0	45.0					18																	14748609		692	1591	2283	SO:0001583	missense	374860	exon1			AGCCCGTCAACCT	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.191T>C	chr18.hg19:g.14748609T>C	ENSP00000351875:p.Val64Ala	135.0	0.0		77.0	4.0	NM_001145029	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	hg19	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.711	-0.787089	0.02907	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.69175	-0.38;-0.38	0.14	0.14	0.14804	.	.	.	.	.	T	0.38904	0.1058	N	0.11313	0.125	0.09310	N	1	B	0.26445	0.149	B	0.19391	0.025	T	0.20042	-1.0287	8	0.15066	T	0.55	.	.	.	.	.	64	F8WAG3	.	A	64	ENSP00000351875:V64A;ENSP00000399031:V64A	ENSP00000351875:V64A	V	+	2	0	ANKRD30B	14738609	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.177000	0.16801	0.157000	0.19338	0.155000	0.16302	GTC	.	.		0.582	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
GREB1L	80000	hgsc.bcm.edu	37	18	19100763	19100763	+	Missense_Mutation	SNP	A	A	C	rs201565664		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:19100763A>C	ENST00000580732.2	+	32	5968	c.5587A>C	c.(5587-5589)Aag>Cag	p.K1863Q	GREB1L_ENST00000424526.1_Missense_Mutation_p.K1863Q|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Missense_Mutation_p.K1754Q			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1863						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TGCTGATCTTAAGAAATTTAA	0.363																																					p.K1863Q		Atlas-SNP	.											.	GREB1L	69	.	0			c.A5587C						.						72.0	60.0	64.0					18																	19100763		692	1591	2283	SO:0001583	missense	80000	exon32			GATCTTAAGAAAT	AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.5587A>C	chr18.hg19:g.19100763A>C	ENSP00000464162:p.Lys1863Gln	106.0	0.0		87.0	9.0	NM_001142966	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	hg19	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634565	0.87660	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.09817	2.94;2.96	5.56	5.56	0.83823	.	.	.	.	.	T	0.34164	0.0888	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04976	-1.0914	9	0.54805	T	0.06	-10.3868	15.7196	0.77697	1.0:0.0:0.0:0.0	.	1863	Q9C091	GRB1L_HUMAN	Q	1863;1754	ENSP00000412060:K1863Q;ENSP00000269218:K1754Q	ENSP00000269218:K1754Q	K	+	1	0	GREB1L	17354761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.947000	0.93000	2.113000	0.64589	0.528000	0.53228	AAG	.	.		0.363	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
SYT4	6860	hgsc.bcm.edu	37	18	40853607	40853607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:40853607C>A	ENST00000255224.3	-	2	1155	c.787G>T	c.(787-789)Gga>Tga	p.G263*	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Nonsense_Mutation_p.G245*	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	263	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCAATTCCCGAGAGAGGA	0.328																																					p.G263X	NSCLC(85;81 1419 2855 22820 35912)	Atlas-SNP	.											.	SYT4	162	.	0			c.G787T						.						42.0	45.0	44.0					18																	40853607		2195	4293	6488	SO:0001587	stop_gained	6860	exon2			CAATTCCCGAGAG	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.787G>T	chr18.hg19:g.40853607C>A	ENSP00000255224:p.Gly263*	217.0	0.0		131.0	57.0	NM_020783	B4DEU3|Q9P2K4	Nonsense_Mutation	SNP	ENST00000255224.3	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128881	0.98667	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	.	.	.	5.72	5.72	0.89469	.	0.049066	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	263;68	.	ENSP00000255224:G263X	G	-	1	0	SYT4	39107605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.729000	0.84864	2.865000	0.98341	0.655000	0.94253	GGA	.	.		0.328	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
DYM	54808	hgsc.bcm.edu	37	18	46906097	46906097	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr18:46906097A>G	ENST00000269445.6	-	4	682	c.225T>C	c.(223-225)ggT>ggC	p.G75G	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'Flank	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	75					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TAATTAGTGCACCAAGATTTC	0.313																																					p.G75G		Atlas-SNP	.											.	DYM	52	.	0			c.T225C						.						126.0	128.0	128.0					18																	46906097		2203	4299	6502	SO:0001819	synonymous_variant	54808	exon4			TAGTGCACCAAGA	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.225T>C	chr18.hg19:g.46906097A>G		116.0	0.0		96.0	4.0	NM_017653	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	hg19	CCDS11937.1																																																																																			.	.		0.313	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653	
ATP8B3	148229	hgsc.bcm.edu	37	19	1785272	1785272	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:1785272T>C	ENST00000310127.6	-	27	3656	c.3418A>G	c.(3418-3420)Acc>Gcc	p.T1140A	ATP8B3_ENST00000539485.1_Missense_Mutation_p.T1150A|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T1103A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1140					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CACAGGGCGGTCCAGTACTTG	0.602																																					p.T1140A		Atlas-SNP	.											.	ATP8B3	108	.	0			c.A3418G						.						41.0	50.0	47.0					19																	1785272		2192	4289	6481	SO:0001583	missense	148229	exon27			GGGCGGTCCAGTA	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3418A>G	chr19.hg19:g.1785272T>C	ENSP00000311336:p.Thr1140Ala	130.0	0.0		63.0	5.0	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094821	0.56075	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.62364	0.03;0.03;0.03	4.49	4.49	0.54785	.	0.055995	0.64402	D	0.000001	D	0.84844	0.5562	H	0.97540	4.025	0.40442	D	0.980054	D;D	0.76494	0.996;0.999	D;D	0.66847	0.928;0.947	D	0.90200	0.4256	10	0.87932	D	0	.	12.9712	0.58513	0.0:0.0:0.0:1.0	.	1140;1103	O60423;Q7Z485	AT8B3_HUMAN;.	A	1140;1150;1103	ENSP00000311336:T1140A;ENSP00000443574:T1150A;ENSP00000437115:T1103A	ENSP00000311336:T1140A	T	-	1	0	ATP8B3	1736272	1.000000	0.71417	0.979000	0.43373	0.103000	0.19146	6.508000	0.73721	1.660000	0.50760	0.533000	0.62120	ACC	.	.		0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	
REXO1	57455	hgsc.bcm.edu	37	19	1827477	1827477	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:1827477T>C	ENST00000170168.4	-	2	1405	c.1311A>G	c.(1309-1311)ccA>ccG	p.P437P	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	437						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCGAAGATGGCTTCTTCT	0.731																																					p.P437P		Atlas-SNP	.											.	REXO1	55	.	0			c.A1311G						.						15.0	16.0	16.0					19																	1827477		2150	4202	6352	SO:0001819	synonymous_variant	57455	exon2			CGAAGATGGCTTC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1311A>G	chr19.hg19:g.1827477T>C		60.0	0.0		34.0	4.0	NM_020695	Q9ULT2	Silent	SNP	ENST00000170168.4	hg19	CCDS32866.1																																																																																			.	.		0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
MUC16	94025	hgsc.bcm.edu	37	19	9087298	9087298	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:9087298G>A	ENST00000397910.4	-	1	4720	c.4517C>T	c.(4516-4518)aCc>aTc	p.T1506I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1506	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGGCACTGGTATCTGCCTC	0.433																																					p.T1506I		Atlas-SNP	.											.	MUC16	4315	.	0			c.C4517T						.						247.0	231.0	236.0					19																	9087298		1947	4130	6077	SO:0001583	missense	94025	exon1			GCACTGGTATCTG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4517C>T	chr19.hg19:g.9087298G>A	ENSP00000381008:p.Thr1506Ile	153.0	0.0		66.0	28.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.063	0.768474	0.15983	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.01	1.01	0.19927	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.68483	0.958	T	0.43605	-0.9381	8	0.87932	D	0	.	5.3673	0.16121	0.0:0.0:1.0:0.0	.	1506	B5ME49	.	I	1506	ENSP00000381008:T1506I	ENSP00000381008:T1506I	T	-	2	0	MUC16	8948298	0.003000	0.15002	0.036000	0.18154	0.792000	0.44763	-0.342000	0.07801	0.850000	0.35239	0.313000	0.20887	ACC	.	.		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ICAM3	3385	hgsc.bcm.edu	37	19	10449552	10449552	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:10449552A>G	ENST00000160262.5	-	2	357	c.149T>C	c.(148-150)tTt>tCt	p.F50S	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	50	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCAGTTCACAAACAGGGACCC	0.572																																					p.F50S		Atlas-SNP	.											.	ICAM3	29	.	0			c.T149C						.						76.0	74.0	75.0					19																	10449552		2203	4300	6503	SO:0001583	missense	3385	exon2			TTCACAAACAGGG		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.149T>C	chr19.hg19:g.10449552A>G	ENSP00000160262:p.Phe50Ser	101.0	0.0		69.0	6.0	NM_002162	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	hg19	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	A	8.188	0.795300	0.16327	.	.	ENSG00000076662	ENST00000160262	T	0.21191	2.02	5.66	2.47	0.30058	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	1.072550	0.07277	N	0.870167	T	0.09949	0.0244	N	0.04959	-0.14	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	10	0.15499	T	0.54	-0.1736	6.7699	0.23589	0.7189:0.0:0.2811:0.0	.	50	P32942	ICAM3_HUMAN	S	50	ENSP00000160262:F50S	ENSP00000160262:F50S	F	-	2	0	ICAM3	10310552	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	0.508000	0.22692	0.121000	0.18284	0.482000	0.46254	TTT	.	.		0.572	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1		
ZNF439	90594	hgsc.bcm.edu	37	19	11978999	11978999	+	Missense_Mutation	SNP	A	A	G	rs147858709		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:11978999A>G	ENST00000304030.2	+	3	1315	c.1115A>G	c.(1114-1116)cAt>cGt	p.H372R	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.H236R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TTTCAAAGACATGAAAAAACT	0.393																																					p.H372R		Atlas-SNP	.											ZNF439,upper_leg,malignant_melanoma,0,1	ZNF439	67	.	1	Substitution - Missense(1)	skin(1)	c.A1115G						.						59.0	60.0	60.0					19																	11978999		2203	4300	6503	SO:0001583	missense	90594	exon3			AAAGACATGAAAA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1115A>G	chr19.hg19:g.11978999A>G	ENSP00000305077:p.His372Arg	65.0	0.0		46.0	3.0	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	hg19	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	a	13.75	2.330223	0.41297	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	D;D	0.86865	-2.18;-2.18	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94105	0.8110	H	0.96489	3.83	0.26735	N	0.970518	D	0.69078	0.997	D	0.68353	0.957	D	0.85113	0.0964	9	0.87932	D	0	.	6.7827	0.23654	1.0:0.0:0.0:0.0	.	372	Q8NDP4	ZN439_HUMAN	R	236;372	ENSP00000395632:H236R;ENSP00000305077:H372R	ENSP00000305077:H372R	H	+	2	0	ZNF439	11839999	0.409000	0.25368	0.009000	0.14445	0.049000	0.14656	4.046000	0.57376	0.485000	0.27652	0.163000	0.16589	CAT	.	.		0.393	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF100	163227	hgsc.bcm.edu	37	19	21909685	21909685	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:21909685T>C	ENST00000358296.6	-	5	1627	c.1429A>G	c.(1429-1431)Atg>Gtg	p.M477V	ZNF100_ENST00000305570.6_Missense_Mutation_p.M413V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTATGAATCATCTTATGTGCA	0.408																																					p.M477V		Atlas-SNP	.											ZNF100,NS,carcinoma,0,1	ZNF100	62	.	0			c.A1429G						.						63.0	68.0	66.0					19																	21909685		2200	4297	6497	SO:0001583	missense	163227	exon5			GAATCATCTTATG	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1429A>G	chr19.hg19:g.21909685T>C	ENSP00000351042:p.Met477Val	44.0	1.0		20.0	2.0	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	hg19	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.267526	0.01433	.	.	ENSG00000197020	ENST00000358296	T	0.17528	2.27	0.867	0.867	0.19085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.04090	-0.28	0.21445	N	0.99969	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.32771	-0.9894	9	0.51188	T	0.08	.	6.7014	0.23227	0.0:0.0:0.0:1.0	.	477;531	Q8IYN0;Q4G131	ZN100_HUMAN;.	V	477	ENSP00000351042:M477V	ENSP00000351042:M477V	M	-	1	0	ZNF100	21701525	0.000000	0.05858	0.308000	0.25141	0.309000	0.27889	-2.990000	0.00658	0.244000	0.21351	0.241000	0.17934	ATG	.	.		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531	
ZNF681	148213	hgsc.bcm.edu	37	19	23927409	23927409	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:23927409A>G	ENST00000402377.3	-	4	1084	c.943T>C	c.(943-945)Tgt>Cgt	p.C315R	ZNF681_ENST00000395385.3_Missense_Mutation_p.C246R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	315					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GCTTTGCCACATTCCTTATAT	0.373																																					p.C315R		Atlas-SNP	.											.	ZNF681	76	.	0			c.T943C						.						128.0	124.0	125.0					19																	23927409		2203	4300	6503	SO:0001583	missense	148213	exon4			TGCCACATTCCTT	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.943T>C	chr19.hg19:g.23927409A>G	ENSP00000384000:p.Cys315Arg	121.0	0.0		82.0	4.0	NM_138286	B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	9.732	1.162483	0.21538	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.29655	1.56;1.56	1.64	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.91612	3.225	0.52099	D	0.999949	D	0.54964	0.969	P	0.44811	0.461	T	0.50939	-0.8768	9	0.87932	D	0	.	6.9185	0.24374	1.0:0.0:0.0:0.0	.	315	Q96N22	ZN681_HUMAN	R	315;246	ENSP00000384000:C315R;ENSP00000378783:C246R	ENSP00000378783:C246R	C	-	1	0	ZNF681	23719249	0.999000	0.42202	0.034000	0.17996	0.007000	0.05969	6.197000	0.72100	0.731000	0.32448	0.383000	0.25322	TGT	.	.		0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
RYR1	6261	hgsc.bcm.edu	37	19	38979854	38979854	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:38979854T>C	ENST00000359596.3	+	35	5585	c.5585T>C	c.(5584-5586)aTc>aCc	p.I1862T	RYR1_ENST00000355481.4_Missense_Mutation_p.I1862T|RYR1_ENST00000360985.3_Missense_Mutation_p.I1862T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1862	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGAAACAGATCTTGAAGATG	0.532																																					p.I1862T		Atlas-SNP	.											.	RYR1	708	.	0			c.T5585C						.						129.0	108.0	115.0					19																	38979854		2203	4300	6503	SO:0001583	missense	6261	exon35			AACAGATCTTGAA	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5585T>C	chr19.hg19:g.38979854T>C	ENSP00000352608:p.Ile1862Thr	134.0	0.0		75.0	4.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	t	14.52	2.560002	0.45590	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74315	-0.83;-0.83;-0.83	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000004	D	0.82811	0.5118	M	0.71036	2.16	0.45554	D	0.998508	D;D	0.67145	0.996;0.983	D;D	0.63381	0.914;0.913	D	0.85204	0.1017	10	0.87932	D	0	.	12.8479	0.57839	0.0:0.0:0.0:1.0	.	1862;1862	P21817-2;P21817	.;RYR1_HUMAN	T	1862	ENSP00000352608:I1862T;ENSP00000347667:I1862T;ENSP00000354254:I1862T	ENSP00000347667:I1862T	I	+	2	0	RYR1	43671694	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	4.849000	0.62882	1.685000	0.51034	0.451000	0.29950	ATC	.	.		0.532	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
TMEM145	284339	hgsc.bcm.edu	37	19	42820704	42820704	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:42820704A>G	ENST00000301204.3	+	9	759	c.718A>G	c.(718-720)Aag>Gag	p.K240E	TMEM145_ENST00000598766.1_Missense_Mutation_p.K264E	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	240					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGAGAGTGTGAAGATCTTGGG	0.582																																					p.K240E		Atlas-SNP	.											.	TMEM145	55	.	0			c.A718G						.						137.0	122.0	127.0					19																	42820704		2203	4300	6503	SO:0001583	missense	284339	exon9			AGTGTGAAGATCT	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.718A>G	chr19.hg19:g.42820704A>G	ENSP00000301204:p.Lys240Glu	254.0	0.0		100.0	4.0	NM_173633		Missense_Mutation	SNP	ENST00000301204.3	hg19	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397848	0.62177	.	.	ENSG00000167619	ENST00000301204	T	0.44083	0.93	3.93	3.93	0.45458	Rhodopsin-like GPCR transmembrane domain (1);	0.133513	0.47093	D	0.000242	T	0.40473	0.1118	L	0.59436	1.845	0.52099	D	0.999945	P	0.51449	0.945	P	0.48488	0.579	T	0.39781	-0.9597	10	0.06099	T	0.92	-18.5071	11.0586	0.47933	1.0:0.0:0.0:0.0	.	240	Q8NBT3	TM145_HUMAN	E	240	ENSP00000301204:K240E	ENSP00000301204:K240E	K	+	1	0	TMEM145	47512544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.525000	0.67110	1.568000	0.49683	0.374000	0.22700	AAG	.	.		0.582	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633	
MEGF8	1954	hgsc.bcm.edu	37	19	42866592	42866592	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:42866592A>G	ENST00000251268.6	+	34	5901	c.5901A>G	c.(5899-5901)ggA>ggG	p.G1967G	MEGF8_ENST00000334370.4_Silent_p.G1900G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1967	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTTGCATTGGACGCAATGGGT	0.622																																					p.G1967G		Atlas-SNP	.											.	MEGF8	358	.	0			c.A5901G						.						131.0	110.0	118.0					19																	42866592		2203	4300	6503	SO:0001819	synonymous_variant	1954	exon34			CATTGGACGCAAT	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5901A>G	chr19.hg19:g.42866592A>G		91.0	0.0		72.0	4.0	NM_001271938	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	hg19																																																																																				.	.		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
PSG7	5676	hgsc.bcm.edu	37	19	43430131	43430131	+	RNA	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:43430131G>T	ENST00000406070.2	-	0	1133				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTTTGTCCTGAATGGTAATA	0.463																																					p.S224X		Atlas-SNP	.											.	.	.	.	0			c.C671A						.						147.0	157.0	154.0					19																	43430131		2201	4299	6500			5676	exon4			TGTCCTGAATGGT			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		chr19.hg19:g.43430131G>T		171.0	0.0		90.0	43.0	NM_001206650	Q15232	Nonsense_Mutation	SNP	ENST00000406070.2	hg19																																																																																				.	.		0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
ZNF285	26974	hgsc.bcm.edu	37	19	44891202	44891202	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:44891202C>G	ENST00000330997.4	-	4	1269	c.1205G>C	c.(1204-1206)tGc>tCc	p.C402S	ZNF285_ENST00000544719.2_Missense_Mutation_p.C402S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.C409S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C402S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACACTCACTGCATTTGTAGGG	0.478																																					p.C402S		Atlas-SNP	.											ZNF285,NS,carcinoma,0,2	ZNF285	86	.	2	Substitution - Missense(2)	prostate(2)	c.G1205C						.						54.0	52.0	52.0					19																	44891202		2203	4300	6503	SO:0001583	missense	26974	exon4			TCACTGCATTTGT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1205G>C	chr19.hg19:g.44891202C>G	ENSP00000333595:p.Cys402Ser	66.0	0.0		37.0	3.0	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	hg19	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689844	0.68271	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	D	0.85171	-1.95	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93262	0.7853	M	0.91612	3.225	0.39148	D	0.962161	D;B	0.89917	1.0;0.007	D;B	0.97110	1.0;0.151	D	0.95026	0.8165	9	0.62326	D	0.03	.	13.918	0.63914	0.0:1.0:0.0:0.0	.	426;402	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	S	425;402	ENSP00000333595:C402S	ENSP00000333595:C402S	C	-	2	0	ZNF285	49583042	1.000000	0.71417	0.664000	0.29753	0.967000	0.64934	4.406000	0.59748	1.598000	0.50083	0.298000	0.19748	TGC	.	.		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
ZNF285	26974	hgsc.bcm.edu	37	19	44891217	44891217	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:44891217T>C	ENST00000330997.4	-	4	1254	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G	ZNF285_ENST00000544719.2_Missense_Mutation_p.E397G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.E404G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E397G(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTAGGGCTTCTCTCCAGTGTG	0.483																																					p.E397G		Atlas-SNP	.											ZNF285,NS,carcinoma,0,2	ZNF285	86	.	2	Substitution - Missense(2)	prostate(2)	c.A1190G						.						57.0	56.0	57.0					19																	44891217		2203	4300	6503	SO:0001583	missense	26974	exon4			GGCTTCTCTCCAG	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1190A>G	chr19.hg19:g.44891217T>C	ENSP00000333595:p.Glu397Gly	67.0	0.0		35.0	3.0	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	hg19	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812415	0.70912	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.27557	1.66	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53012	0.1770	M	0.75150	2.29	0.34602	D	0.716652	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.933	T	0.67393	-0.5682	9	0.87932	D	0	.	11.1099	0.48226	0.0:0.0:0.0:1.0	.	421;397	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	420;397	ENSP00000333595:E397G	ENSP00000333595:E397G	E	-	2	0	ZNF285	49583057	1.000000	0.71417	0.745000	0.31077	0.941000	0.58515	7.429000	0.80309	1.308000	0.44962	0.248000	0.18094	GAG	.	.		0.483	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
PVRL2	5819	hgsc.bcm.edu	37	19	45389426	45389426	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:45389426A>G	ENST00000252483.5	+	8	1297	c.1297A>G	c.(1297-1299)Agc>Ggc	p.S433G	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	433					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTCGGAGCACAGCCCACTCAA	0.637																																					p.S433G		Atlas-SNP	.											.	PVRL2	58	.	0			c.A1297G						.						40.0	42.0	42.0					19																	45389426		1888	4105	5993	SO:0001583	missense	5819	exon8			GAGCACAGCCCAC	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1297A>G	chr19.hg19:g.45389426A>G	ENSP00000252483:p.Ser433Gly	143.0	0.0		82.0	4.0	NM_001042724	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	hg19	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310333	0.40895	.	.	ENSG00000130202	ENST00000252483	D	0.83914	-1.78	5.23	4.15	0.48705	.	0.000000	0.64402	D	0.000009	T	0.68375	0.2994	L	0.27053	0.805	0.32084	N	0.592741	B	0.23377	0.084	B	0.21360	0.034	T	0.64015	-0.6506	10	0.14656	T	0.56	.	7.918	0.29829	0.8169:0.0:0.0:0.1831	.	433	Q92692	PVRL2_HUMAN	G	433	ENSP00000252483:S433G	ENSP00000252483:S433G	S	+	1	0	PVRL2	50081266	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.924000	0.40065	2.110000	0.64415	0.402000	0.26972	AGC	.	.		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
GRIN2D	2906	hgsc.bcm.edu	37	19	48908506	48908506	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:48908506G>A	ENST00000263269.3	+	3	1069	c.981G>A	c.(979-981)gtG>gtA	p.V327V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	327					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGCCGTAGTGGCCAGAGGTG	0.701																																					p.V327V		Atlas-SNP	.											.	GRIN2D	76	.	0			c.G981A						.						15.0	18.0	17.0					19																	48908506		2184	4252	6436	SO:0001819	synonymous_variant	2906	exon3			CGTAGTGGCCAGA	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.981G>A	chr19.hg19:g.48908506G>A		35.0	0.0		14.0	5.0	NM_000836		Silent	SNP	ENST00000263269.3	hg19	CCDS12719.1																																																																																			.	.		0.701	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
DKKL1	27120	hgsc.bcm.edu	37	19	49868005	49868005	+	Silent	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:49868005C>T	ENST00000221498.2	+	2	582	c.177C>T	c.(175-177)ttC>ttT	p.F59F	DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	59					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GCCGACTTTTCCTGAAAGTAA	0.592																																					p.F59F		Atlas-SNP	.											.	DKKL1	23	.	0			c.C177T						.						49.0	49.0	49.0					19																	49868005		2202	4300	6502	SO:0001819	synonymous_variant	27120	exon2			ACTTTTCCTGAAA	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.177C>T	chr19.hg19:g.49868005C>T		160.0	0.0		91.0	4.0	NM_014419		Silent	SNP	ENST00000221498.2	hg19	CCDS12762.1																																																																																			.	.		0.592	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	
NUP62	23636	hgsc.bcm.edu	37	19	50412103	50412103	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:50412103C>T	ENST00000596217.1	-	2	2849	c.962G>A	c.(961-963)gGg>gAg	p.G321E	NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.G321E|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.G321E|NUP62_ENST00000413454.1_Missense_Mutation_p.G321E|NUP62_ENST00000422090.2_Missense_Mutation_p.G321E|NUP62_ENST00000597723.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	321	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGCAGCCGCCCCTGCAGCTGC	0.637																																					p.G321E		Atlas-SNP	.											.	NUP62	50	.	0			c.G962A						.						32.0	38.0	36.0					19																	50412103		2181	4270	6451	SO:0001583	missense	23636	exon3			GCCGCCCCTGCAG	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.962G>A	chr19.hg19:g.50412103C>T	ENSP00000471191:p.Gly321Glu	95.0	0.0		39.0	13.0	NM_153719	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	hg19	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278653	0.40294	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37752	1.18;1.18;1.18	5.73	2.24	0.28232	Nucleoporin, NSP1-like, C-terminal (1);	0.373725	0.23930	U	0.043150	T	0.22003	0.0530	L	0.36672	1.1	0.09310	N	1	P	0.34934	0.476	B	0.33121	0.158	T	0.07790	-1.0754	9	.	.	.	-14.9936	4.2073	0.10495	0.1637:0.5934:0.1581:0.0848	.	321	P37198	NUP62_HUMAN	E	321	ENSP00000305503:G321E;ENSP00000407331:G321E;ENSP00000387991:G321E	.	G	-	2	0	NUP62	55103915	0.004000	0.15560	0.009000	0.14445	0.011000	0.07611	0.091000	0.15046	0.887000	0.36136	0.655000	0.94253	GGG	.	.		0.637	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719	
MYH14	79784	hgsc.bcm.edu	37	19	50775221	50775221	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:50775221A>G	ENST00000596571.1	+	23	3164	c.3164A>G	c.(3163-3165)gAc>gGc	p.D1055G	MYH14_ENST00000440075.2_Missense_Mutation_p.D1096G|MYH14_ENST00000425460.1_Missense_Mutation_p.D1063G|MYH14_ENST00000262269.8_Missense_Mutation_p.D1096G|MYH14_ENST00000601313.1_Missense_Mutation_p.D1096G|MYH14_ENST00000376970.2_Missense_Mutation_p.D1088G|MYH14_ENST00000598205.1_Missense_Mutation_p.D1063G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1055					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACAATCGCAGACATGGAGGGT	0.582																																					p.D1096G		Atlas-SNP	.											.	MYH14	261	.	0			c.A3287G						.						32.0	35.0	34.0					19																	50775221		2047	4183	6230	SO:0001583	missense	79784	exon26			TCGCAGACATGGA	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3164A>G	chr19.hg19:g.50775221A>G	ENSP00000472819:p.Asp1055Gly	163.0	0.0		68.0	4.0	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	hg19	CCDS59411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.19|17.19	3.326243|3.326243	0.60743|0.60743	.|.	.|.	ENSG00000105357|ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269|ENST00000301415;ENST00000376965	D;D;D;D|.	0.86297|.	-2.1;-2.1;-2.1;-2.1|.	3.17|3.17	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.82056|0.82056	2.57|2.57	0.49582|0.49582	D|D	0.999808|0.999808	D;D;D|.	0.60575|.	0.976;0.98;0.988|.	P;P;P|.	0.59595|.	0.76;0.728;0.86|.	T|T	0.77109|0.77109	-0.2709|-0.2709	9|6	0.87932|0.87932	D|D	0|0	.|.	10.0621|10.0621	0.42282|0.42282	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1096;1055;1063|.	Q7Z406-2;Q7Z406;Q7Z406-6|.	.;MYH14_HUMAN;.|.	G|A	1096;1088;1063;1096|1055	ENSP00000406273:D1096G;ENSP00000366169:D1088G;ENSP00000407879:D1063G;ENSP00000262269:D1096G|.	ENSP00000262269:D1096G|ENSP00000301415:T1055A	D|T	+|+	2|1	0|0	MYH14|MYH14	55467033|55467033	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.640000|0.640000	0.38277|0.38277	8.595000|8.595000	0.90840|0.90840	1.684000|1.684000	0.51022|0.51022	0.533000|0.533000	0.62120|0.62120	GAC|ACA	.	.		0.582	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
ETFB	2109	hgsc.bcm.edu	37	19	51857546	51857546	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:51857546T>C	ENST00000309244.4	-	2	165	c.74A>G	c.(73-75)gAc>gGc	p.D25G	CTD-2616J11.11_ENST00000600067.1_Nonstop_Mutation_p.*44W|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.D116G	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	25					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACCGGTCCTGTCAGGCTTCAC	0.627																																					p.D116G		Atlas-SNP	.											ETFB_ENST00000309244,NS,carcinoma,0,2	ETFB	46	.	0			c.A347G						.						90.0	72.0	78.0					19																	51857546		2203	4300	6503	SO:0001583	missense	2109	exon1			GTCCTGTCAGGCT	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.74A>G	chr19.hg19:g.51857546T>C	ENSP00000311930:p.Asp25Gly	114.0	0.0		59.0	3.0	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	hg19	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.925813	0.52759	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.82893	-1.66;-1.66	5.22	5.22	0.72569	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	L	0.45581	1.43	0.80722	D	1	D;D	0.71674	0.965;0.998	P;D	0.79108	0.817;0.992	D	0.88588	0.3141	10	0.72032	D	0.01	.	13.0526	0.58962	0.0:0.0:0.0:1.0	.	25;116	P38117;P38117-2	ETFB_HUMAN;.	G	25;116	ENSP00000311930:D25G;ENSP00000346173:D116G	ENSP00000311930:D25G	D	-	2	0	ETFB	56549358	1.000000	0.71417	0.349000	0.25694	0.036000	0.12997	3.957000	0.56730	1.988000	0.58038	0.529000	0.55759	GAC	.	.		0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1		
NCR1	9437	hgsc.bcm.edu	37	19	55421416	55421416	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:55421416A>G	ENST00000291890.4	+	5	711	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	NCR1_ENST00000594765.1_Missense_Mutation_p.T225A|NCR1_ENST00000338835.5_Missense_Mutation_p.T225A|NCR1_ENST00000350790.5_Missense_Mutation_p.T130A|NCR1_ENST00000357397.5_Missense_Mutation_p.T118A|NCR1_ENST00000447255.1_Missense_Mutation_p.T225A|NCR1_ENST00000598576.1_Missense_Mutation_p.T213A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	225					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TGAAGACCCCACCTTTCCTGG	0.463																																					p.T225A		Atlas-SNP	.											.	NCR1	60	.	0			c.A673G						.						188.0	190.0	189.0					19																	55421416		2203	4300	6503	SO:0001583	missense	9437	exon5			GACCCCACCTTTC	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.673A>G	chr19.hg19:g.55421416A>G	ENSP00000291890:p.Thr225Ala	158.0	0.0		80.0	4.0	NM_001145458	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	hg19	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	A	6.689	0.495827	0.12762	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00543	6.98;7.02;7.07;6.93;6.68	3.19	0.932	0.19466	.	2.364040	0.01849	N	0.035808	T	0.00666	0.0022	L	0.52011	1.625	0.09310	N	1	B;B;B;B;B;B	0.15473	0.012;0.006;0.001;0.013;0.003;0.002	B;B;B;B;B;B	0.16289	0.015;0.002;0.003;0.01;0.009;0.004	T	0.50039	-0.8874	10	0.46703	T	0.11	.	3.6905	0.08344	0.6068:0.2642:0.129:0.0	.	118;130;225;130;225;225	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	A	225;225;225;130;118	ENSP00000291890:T225A;ENSP00000404434:T225A;ENSP00000339515:T225A;ENSP00000344358:T130A;ENSP00000349972:T118A	ENSP00000291890:T225A	T	+	1	0	NCR1	60113228	0.002000	0.14202	0.004000	0.12327	0.384000	0.30261	0.650000	0.24858	0.118000	0.18165	0.472000	0.43445	ACC	.	.		0.463	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		
ZNF835	90485	hgsc.bcm.edu	37	19	57175497	57175497	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:57175497G>T	ENST00000537055.2	-	2	1301	c.1070C>A	c.(1069-1071)aCc>aAc	p.T357N		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGCTCTCCGGTGTGCGTGCG	0.697																																					p.T357N		Atlas-SNP	.											.	ZNF835	106	.	0			c.C1070A						.						21.0	21.0	21.0					19																	57175497		2202	4293	6495	SO:0001583	missense	90485	exon2			TCTCCGGTGTGCG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1070C>A	chr19.hg19:g.57175497G>T	ENSP00000444747:p.Thr357Asn	138.0	0.0		74.0	44.0	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	hg19	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158278	0.78114	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26067	1.76	2.15	1.04	0.20106	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29423	0.0733	L	0.49126	1.545	0.22001	N	0.999428	B	0.32188	0.359	B	0.41236	0.351	T	0.35475	-0.9787	9	0.62326	D	0.03	.	9.8689	0.41162	0.0:0.2131:0.7869:0.0	.	379	Q9Y2P0	ZN835_HUMAN	N	379;357	ENSP00000444747:T357N	ENSP00000341756:T379N	T	-	2	0	ZNF835	61867309	0.902000	0.30710	0.011000	0.14972	0.924000	0.55760	1.556000	0.36288	0.430000	0.26230	0.561000	0.74099	ACC	.	.		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
PEG3	5178	hgsc.bcm.edu	37	19	57326944	57326944	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:57326944G>T	ENST00000326441.9	-	10	3229	c.2866C>A	c.(2866-2868)Cct>Act	p.P956T	PEG3_ENST00000423103.2_Missense_Mutation_p.P956T|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P830T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P832T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	956					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)		TCACCAAAAGGCAGAGAGTGA	0.473																																					p.P956T		Atlas-SNP	.											.	PEG3	414	.	0			c.C2866A						.						142.0	135.0	137.0					19																	57326944		2203	4300	6503	SO:0001583	missense	5178	exon9			CAAAAGGCAGAGA	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.2866C>A	chr19.hg19:g.57326944G>T	ENSP00000326581:p.Pro956Thr	283.0	0.0		119.0	43.0	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	0.175	-1.067845	0.01934	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	3.83	1.66	0.24008	.	1.031830	0.07707	N	0.941361	T	0.03783	0.0107	L	0.59436	1.845	.	.	.	B;B;B	0.31910	0.063;0.179;0.346	B;B;B	0.30943	0.026;0.052;0.122	T	0.40232	-0.9574	9	0.19147	T	0.46	-1.1974	6.4047	0.21658	0.1015:0.0:0.7156:0.1828	.	832;956;891	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	956	ENSP00000326581:P956T;ENSP00000403051:P956T	ENSP00000326581:P956T	P	-	1	0	ZIM2	62018756	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.044000	0.13992	0.591000	0.29711	0.655000	0.94253	CCT	.	.		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZSCAN22	342945	hgsc.bcm.edu	37	19	58846297	58846297	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr19:58846297T>C	ENST00000329665.4	+	2	276	c.129T>C	c.(127-129)gcT>gcC	p.A43A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	43					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACCACATTGCTCACTCTGAGG	0.622																																					p.A43A		Atlas-SNP	.											.	ZSCAN22	47	.	0			c.T129C						.						87.0	77.0	80.0					19																	58846297		2203	4300	6503	SO:0001819	synonymous_variant	342945	exon2			CATTGCTCACTCT	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.129T>C	chr19.hg19:g.58846297T>C		131.0	0.0		93.0	4.0	NM_181846	Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	hg19	CCDS12975.1																																																																																			.	.		0.622	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	
ZNF343	79175	hgsc.bcm.edu	37	20	2465247	2465247	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:2465247A>G	ENST00000278772.4	-	6	847	c.360T>C	c.(358-360)tgT>tgC	p.C120C	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	120	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGAACTGCTGACAGGAGAAGG	0.468																																					p.C120C		Atlas-SNP	.											.	ZNF343	47	.	0			c.T360C						.						90.0	93.0	92.0					20																	2465247		2203	4300	6503	SO:0001819	synonymous_variant	79175	exon6			CTGCTGACAGGAG	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.360T>C	chr20.hg19:g.2465247A>G		101.0	0.0		81.0	4.0	NM_024325	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	hg19	CCDS13028.1																																																																																			.	.		0.468	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325	
TMC2	117532	hgsc.bcm.edu	37	20	2539363	2539363	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:2539363A>G	ENST00000358864.1	+	3	359	c.344A>G	c.(343-345)aAg>aGg	p.K115R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	115	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCAGCCCCAAAGAGGGAAAAG	0.647																																					p.K115R		Atlas-SNP	.											.	TMC2	121	.	0			c.A344G						.						23.0	23.0	23.0					20																	2539363		2196	4298	6494	SO:0001583	missense	117532	exon3			CCCCAAAGAGGGA	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.344A>G	chr20.hg19:g.2539363A>G	ENSP00000351732:p.Lys115Arg	148.0	0.0		94.0	4.0	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	A	6.549	0.469630	0.12461	.	.	ENSG00000149488	ENST00000358864	T	0.51071	0.72	4.59	2.21	0.28008	.	0.584607	0.18463	N	0.140477	T	0.38904	0.1058	M	0.62723	1.935	0.25129	N	0.990581	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.28554	-1.0040	10	0.18710	T	0.47	-2.4822	7.0528	0.25083	0.805:0.0:0.195:0.0	.	115;115	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	R	115	ENSP00000351732:K115R	ENSP00000351732:K115R	K	+	2	0	TMC2	2487363	0.935000	0.31712	0.502000	0.27614	0.039000	0.13416	1.787000	0.38704	0.297000	0.22615	0.454000	0.30748	AAG	.	.		0.647	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
PTPRA	5786	hgsc.bcm.edu	37	20	3017865	3017865	+	Missense_Mutation	SNP	A	A	G	rs35448106		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:3017865A>G	ENST00000216877.6	+	22	2637	c.2237A>G	c.(2236-2238)gAg>gGg	p.E746G	PTPRA_ENST00000318266.5_Missense_Mutation_p.E746G|PTPRA_ENST00000358719.4_Missense_Mutation_p.E611G|PTPRA_ENST00000356147.3_Missense_Mutation_p.E746G|PTPRA_ENST00000380393.3_Missense_Mutation_p.E755G|PTPRA_ENST00000425918.2_Missense_Mutation_p.E766G|PTPRA_ENST00000399903.2_Missense_Mutation_p.E755G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	755	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGAAAGCAGAGGGGATTTTG	0.577																																					p.E755G		Atlas-SNP	.											.	PTPRA	75	.	0			c.A2264G						.						126.0	104.0	111.0					20																	3017865		2203	4300	6503	SO:0001583	missense	5786	exon27			AAGCAGAGGGGAT		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2237A>G	chr20.hg19:g.3017865A>G	ENSP00000216877:p.Glu746Gly	171.0	0.0		87.0	5.0	NM_002836	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	hg19	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	33	5.282359	0.95489	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	D	0.92001	0.7466	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.99	D	0.92917	0.6352	10	0.87932	D	0	.	15.8745	0.79151	1.0:0.0:0.0:0.0	.	766;755;746	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	G	755;746;755;611;365;766;746;746	ENSP00000369756:E755G;ENSP00000216877:E746G;ENSP00000382787:E755G;ENSP00000351559:E611G;ENSP00000393553:E766G;ENSP00000314568:E746G;ENSP00000348468:E746G	ENSP00000216877:E746G	E	+	2	0	PTPRA	2965865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.271000	0.95698	2.153000	0.67306	0.528000	0.53228	GAG	.	.		0.577	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
ASXL1	171023	hgsc.bcm.edu	37	20	31024706	31024706	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:31024706T>C	ENST00000375687.4	+	13	4615	c.4191T>C	c.(4189-4191)ggT>ggC	p.G1397G	ASXL1_ENST00000306058.5_Silent_p.G1392G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1397					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AACTGGTGGGTCACTTGGAAG	0.547			"""F, N, Mis"""		"""MDS, CMML"""																																p.G1397G		Atlas-SNP	.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114	.	0			c.T4191C						.						99.0	104.0	102.0					20																	31024706		2203	4300	6503	SO:0001819	synonymous_variant	171023	exon12			GGTGGGTCACTTG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4191T>C	chr20.hg19:g.31024706T>C		138.0	0.0		58.0	5.0	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	hg19	CCDS13201.1																																																																																			.	.		0.547	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
E2F1	1869	hgsc.bcm.edu	37	20	32265257	32265257	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:32265257T>A	ENST00000343380.5	-	5	954	c.815A>T	c.(814-816)cAg>cTg	p.Q272L	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	272	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCTTGGAGCTGGGTCTCAGG	0.612																																					p.Q272L		Atlas-SNP	.											.	E2F1	41	.	0			c.A815T						.						92.0	84.0	87.0					20																	32265257		2203	4300	6503	SO:0001583	missense	1869	exon5			TGGAGCTGGGTCT		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.815A>T	chr20.hg19:g.32265257T>A	ENSP00000345571:p.Gln272Leu	182.0	0.0		111.0	47.0	NM_005225	Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	hg19	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556112	0.45487	.	.	ENSG00000101412	ENST00000343380	D	0.85088	-1.94	5.02	3.92	0.45320	.	0.199142	0.45606	D	0.000347	T	0.77287	0.4108	L	0.50333	1.59	0.40587	D	0.981456	P	0.41345	0.746	B	0.30943	0.122	T	0.77885	-0.2421	10	0.72032	D	0.01	-9.7838	10.331	0.43823	0.0:0.0778:0.0:0.9222	.	272	Q01094	E2F1_HUMAN	L	272	ENSP00000345571:Q272L	ENSP00000345571:Q272L	Q	-	2	0	E2F1	31728918	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	3.976000	0.56867	0.946000	0.37632	0.379000	0.24179	CAG	.	.		0.612	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2		
LBP	3929	hgsc.bcm.edu	37	20	36974925	36974925	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:36974925G>A	ENST00000217407.2	+	1	167	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	2					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTAGGATGGGGGCCTTGGCCA	0.642																																					p.G2G		Atlas-SNP	.											.	LBP	60	.	0			c.G6A						.						71.0	70.0	70.0					20																	36974925		2203	4300	6503	SO:0001819	synonymous_variant	3929	exon1			GATGGGGGCCTTG		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.6G>A	chr20.hg19:g.36974925G>A		80.0	0.0		56.0	25.0	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	hg19	CCDS13304.1																																																																																			.	.		0.642	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
NCOA3	8202	hgsc.bcm.edu	37	20	46275954	46275954	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:46275954A>G	ENST00000371998.3	+	18	3581	c.3390A>G	c.(3388-3390)ggA>ggG	p.G1130G	NCOA3_ENST00000341724.6_Silent_p.G1060G|NCOA3_ENST00000372004.3_Silent_p.G1130G|NCOA3_ENST00000371997.3_Silent_p.G1125G			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1130	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATCTTCAGGGACAATCACCAT	0.483																																					p.G1130G		Atlas-SNP	.											.	NCOA3	156	.	0			c.A3390G						.						109.0	95.0	100.0					20																	46275954		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon18			TCAGGGACAATCA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3390A>G	chr20.hg19:g.46275954A>G		178.0	0.0		90.0	52.0	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	hg19	CCDS13407.1																																																																																			.	.		0.483	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
STAU1	6780	hgsc.bcm.edu	37	20	47740949	47740949	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:47740949T>C	ENST00000371856.2	-	7	1195	c.785A>G	c.(784-786)aAg>aGg	p.K262R	STAU1_ENST00000371792.1_Missense_Mutation_p.K181R|STAU1_ENST00000371802.1_Missense_Mutation_p.K187R|STAU1_ENST00000360426.4_Missense_Mutation_p.K181R|STAU1_ENST00000347458.5_Missense_Mutation_p.K181R|STAU1_ENST00000371828.3_Missense_Mutation_p.K187R|STAU1_ENST00000340954.7_Missense_Mutation_p.K181R	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	262					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GATTCTAGGCTTTACTCGTTC	0.423																																					p.K262R		Atlas-SNP	.											.	STAU1	54	.	0			c.A785G						.						211.0	235.0	227.0					20																	47740949		2203	4300	6503	SO:0001583	missense	6780	exon7			CTAGGCTTTACTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.785A>G	chr20.hg19:g.47740949T>C	ENSP00000360922:p.Lys262Arg	112.0	0.0		65.0	4.0	NM_017453	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	hg19	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639398	0.29157	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.47528	1.37;1.38;1.38;1.38;1.38;1.37;1.4;0.84	5.33	4.22	0.49857	.	0.332870	0.35555	N	0.003134	T	0.38772	0.1053	L	0.49350	1.555	0.40451	D	0.980147	B;B	0.14012	0.009;0.0	B;B	0.15052	0.012;0.001	T	0.17471	-1.0368	10	0.18710	T	0.47	-8.297	9.9143	0.41425	0.0:0.0847:0.0:0.9153	.	262;187	O95793;Q5JW29	STAU1_HUMAN;.	R	187;181;262;181;181;181;187;181;187	ENSP00000360893:K187R;ENSP00000345425:K181R;ENSP00000360922:K262R;ENSP00000353604:K181R;ENSP00000323443:K181R;ENSP00000360867:K187R;ENSP00000360857:K181R;ENSP00000416779:K187R	ENSP00000345425:K181R	K	-	2	0	STAU1	47174356	1.000000	0.71417	0.994000	0.49952	0.814000	0.46013	2.733000	0.47360	0.854000	0.35336	0.528000	0.53228	AAG	.	.		0.423	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
DPM1	8813	hgsc.bcm.edu	37	20	49571794	49571794	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr20:49571794C>A	ENST00000371588.5	-	2	216	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	DPM1_ENST00000371583.5_Missense_Mutation_p.D64Y|DPM1_ENST00000371582.4_Missense_Mutation_p.D64Y|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	64					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CTTCCATCATCTATGATTATA	0.294																																					p.D64Y		Atlas-SNP	.											DPM1,right_upper_lobe,carcinoma,0,1	DPM1	24	.	0			c.G190T						.						106.0	95.0	99.0					20																	49571794		2203	4299	6502	SO:0001583	missense	8813	exon2			CATCATCTATGAT	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.190G>T	chr20.hg19:g.49571794C>A	ENSP00000360644:p.Asp64Tyr	94.0	0.0		44.0	2.0	NM_003859	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	hg19	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.707620|4.707620	0.89018|0.89018	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.75704|.	-0.96;-0.96;-0.96;-0.96|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.94434|0.94434	0.8209|0.8209	H|H	0.99989|0.99989	5.305|5.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.97292|0.97292	0.9925|0.9925	9|5	.|.	.|.	.|.	-17.3906|-17.3906	19.876|19.876	0.96870|0.96870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	64|.	O60762|.	DPM1_HUMAN|.	Y|I	64|63	ENSP00000360644:D64Y;ENSP00000360638:D64Y;ENSP00000360639:D64Y;ENSP00000394921:D64Y|.	.|.	D|R	-|-	1|2	0|0	DPM1|DPM1	49005201|49005201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.352000|7.352000	0.79404|0.79404	2.709000|2.709000	0.92574|0.92574	0.591000|0.591000	0.81541|0.81541	GAT|AGA	.	.		0.294	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
CHODL	140578	hgsc.bcm.edu	37	21	19632556	19632556	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:19632556C>T	ENST00000299295.2	+	4	978	c.587C>T	c.(586-588)aCa>aTa	p.T196I	CHODL_ENST00000543733.1_Missense_Mutation_p.T177I|CHODL_ENST00000338326.3_Missense_Mutation_p.T155I|CHODL_ENST00000400128.1_Missense_Mutation_p.T155I|CHODL_ENST00000400131.1_Missense_Mutation_p.T155I|CHODL_ENST00000400127.1_Missense_Mutation_p.T155I|CHODL_ENST00000400135.1_Missense_Mutation_p.T155I	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	196					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCTTATCTTACAAATCAACCA	0.328																																					p.T196I		Atlas-SNP	.											.	CHODL	54	.	0			c.C587T						.						102.0	102.0	102.0					21																	19632556		2203	4300	6503	SO:0001583	missense	140578	exon4			ATCTTACAAATCA	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.587C>T	chr21.hg19:g.19632556C>T	ENSP00000299295:p.Thr196Ile	92.0	0.0		59.0	4.0	NM_024944	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	hg19	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855727	0.51376	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19806	2.19;2.12;2.12;2.19;2.17;2.12;2.17	5.41	5.41	0.78517	.	0.578427	0.19439	N	0.114234	T	0.26774	0.0655	L	0.51422	1.61	0.40735	D	0.98278	B;P;P	0.45126	0.294;0.845;0.851	B;B;B	0.43478	0.057;0.421;0.244	T	0.01720	-1.1288	9	.	.	.	-16.9145	18.1415	0.89641	0.0:1.0:0.0:0.0	.	196;177;155	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	I	155;155;155;155;196;155;177	ENSP00000382993:T155I;ENSP00000382996:T155I;ENSP00000383001:T155I;ENSP00000382992:T155I;ENSP00000299295:T196I;ENSP00000339975:T155I;ENSP00000443566:T177I	.	T	+	2	0	CHODL	18554427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.679000	0.46909	2.700000	0.92200	0.650000	0.86243	ACA	.	.		0.328	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944	
MORC3	23515	hgsc.bcm.edu	37	21	37747486	37747486	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:37747486T>C	ENST00000400485.1	+	17	2788	c.2712T>C	c.(2710-2712)gcT>gcC	p.A904A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	904					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AACTGCTGGCTATGATTGTGC	0.363																																					p.A904A		Atlas-SNP	.											.	MORC3	78	.	0			c.T2712C						.						168.0	154.0	158.0					21																	37747486		1942	4143	6085	SO:0001819	synonymous_variant	23515	exon17			GCTGGCTATGATT	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2712T>C	chr21.hg19:g.37747486T>C		83.0	0.0		71.0	4.0	NM_015358	A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	hg19	CCDS42924.1																																																																																			.	.		0.363	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
DSCAM	1826	hgsc.bcm.edu	37	21	41455834	41455835	+	Splice_Site	DNP	CC	CC	GA			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:41455834_41455835CC>GA	ENST00000400454.1	-	24	4708_4709	c.4231_4232GG>TC	c.(4231-4233)GGa>TCa	p.G1411S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1411	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				TATCTTATTACCTCTGATAGAG	0.45																																					.|p.G1411X	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											.	DSCAM	347	.	0			c.4231+1G>C|c.G4231T						.																																			SO:0001630	splice_region_variant	1826	exon25|exon24			TTATTACCTCTGA|TATTACCTCTGAT	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.4231_4232delinsGA	chr21.hg19:g.41455834_41455835delinsGA		131.0|134.0	0.0		87.0|86.0	34.0|35.0	NM_001271534	O60468	Splice_Site|Nonsense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1																																																																																			.	.		0.450	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	Missense_Mutation
PKNOX1	5316	hgsc.bcm.edu	37	21	44424541	44424541	+	Splice_Site	SNP	A	A	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:44424541A>C	ENST00000291547.5	+	2	261	c.50A>C	c.(49-51)cAg>cCg	p.Q17P	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	17					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GATGGGCAACAGGTGAGCTTG	0.383																																					p.Q17P		Atlas-SNP	.											.	PKNOX1	40	.	0			c.A50C						.						136.0	117.0	124.0					21																	44424541		2203	4300	6503	SO:0001630	splice_region_variant	5316	exon2			GGCAACAGGTGAG		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.51+1A>C	chr21.hg19:g.44424541A>C		117.0	0.0		85.0	4.0	NM_004571	O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	hg19	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570455	0.28003	.	.	ENSG00000160199	ENST00000291547	D	0.86230	-2.09	4.71	4.71	0.59529	.	0.151623	0.43416	D	0.000571	D	0.84032	0.5383	M	0.64997	1.995	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.80913	-0.1170	10	0.48119	T	0.1	10.0149	10.2713	0.43485	0.8351:0.1649:0.0:0.0	.	17;17;17	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	P	17	ENSP00000291547:Q17P	ENSP00000291547:Q17P	Q	+	2	0	PKNOX1	43297610	1.000000	0.71417	0.999000	0.59377	0.508000	0.34012	4.581000	0.60949	1.752000	0.51891	0.402000	0.26972	CAG	.	.		0.383	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3		Missense_Mutation
C21orf58	54058	hgsc.bcm.edu	37	21	47731472	47731472	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:47731472G>A	ENST00000291691.7	-	6	1755	c.619C>T	c.(619-621)Cct>Tct	p.P207S	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_Missense_Mutation_p.P101S|C21orf58_ENST00000397680.1_Missense_Mutation_p.P101S|C21orf58_ENST00000397682.3_Missense_Mutation_p.P101S|C21orf58_ENST00000397683.1_Missense_Mutation_p.P101S	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	207										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GTGGCAGGAGGCTGGGGGACC	0.532																																					p.P207S		Atlas-SNP	.											.	C21orf58	25	.	0			c.C619T						.						113.0	91.0	99.0					21																	47731472		2202	4299	6501	SO:0001583	missense	54058	exon6			CAGGAGGCTGGGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.619C>T	chr21.hg19:g.47731472G>A	ENSP00000291691:p.Pro207Ser	147.0	0.0		86.0	4.0	NM_058180	B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	hg19	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778264	0.16120	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.42131	0.98;1.97;0.98;1.97;0.98;0.98	5.3	-2.89	0.05665	.	0.552015	0.16725	N	0.202113	T	0.15652	0.0377	N	0.17082	0.46	0.80722	D	1	P;B;B	0.37101	0.582;0.376;0.123	B;B;B	0.31686	0.134;0.084;0.057	T	0.20638	-1.0269	10	0.20519	T	0.43	-3.8222	2.0293	0.03526	0.152:0.3625:0.2385:0.247	.	207;101;207	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	S	101;169;101;207;101;101	ENSP00000380799:P101S;ENSP00000402356:P169S;ENSP00000380798:P101S;ENSP00000291691:P207S;ENSP00000380796:P101S;ENSP00000380797:P101S	ENSP00000291691:P207S	P	-	1	0	C21orf58	46555900	1.000000	0.71417	0.813000	0.32504	0.346000	0.29079	1.581000	0.36558	-1.028000	0.03321	-0.268000	0.10319	CCT	.	.		0.532	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180	
DIP2A	23181	hgsc.bcm.edu	37	21	47910539	47910539	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr21:47910539A>G	ENST00000417564.2	+	3	211	c.190A>G	c.(190-192)Aat>Gat	p.N64D	DIP2A_ENST00000400274.1_Missense_Mutation_p.N64D|DIP2A_ENST00000466639.1_Missense_Mutation_p.N64D|DIP2A_ENST00000457905.3_Missense_Mutation_p.N64D|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000435722.3_Missense_Mutation_p.N64D|DIP2A_ENST00000318711.7_Missense_Mutation_p.N64D			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	64	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCAAGCAGAGAATAGAATTCC	0.488																																					p.N64D		Atlas-SNP	.											.	DIP2A	332	.	0			c.A190G						.						34.0	37.0	36.0					21																	47910539		1905	4096	6001	SO:0001583	missense	23181	exon3			GCAGAGAATAGAA	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.190A>G	chr21.hg19:g.47910539A>G	ENSP00000392066:p.Asn64Asp	214.0	0.0		117.0	5.0	NM_206891	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	hg19	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	A	4.490	0.090818	0.08632	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.14	2.73	0.32206	DMAP1-binding (1);	0.570024	0.16987	N	0.191452	T	0.38401	0.1039	L	0.43152	1.355	0.51233	D	0.99991	B;B;B;B;B	0.24317	0.0;0.066;0.002;0.101;0.057	B;B;B;B;B	0.25614	0.003;0.036;0.04;0.062;0.06	T	0.07731	-1.0757	10	0.22706	T	0.39	-0.002	11.2874	0.49230	0.6774:0.3226:0.0:0.0	.	64;64;64;64;64	E9PER1;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	D	64	ENSP00000383133:N64D;ENSP00000323633:N64D;ENSP00000393434:N64D;ENSP00000430249:N64D;ENSP00000415089:N64D;ENSP00000392066:N64D	ENSP00000323633:N64D	N	+	1	0	DIP2A	46734967	0.905000	0.30787	0.030000	0.17652	0.138000	0.21146	1.450000	0.35134	0.269000	0.21961	-0.429000	0.05907	AAT	.	.		0.488	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
CLTCL1	8218	hgsc.bcm.edu	37	22	19263298	19263298	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:19263298T>C	ENST00000263200.10	-	2	170	c.98A>G	c.(97-99)gAa>gGa	p.E33G	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E33G|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E33G	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	33	Globular terminal domain.|WD40-like repeat 1.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTTGTCAGATTCCATGGTCAG	0.418			T	?	ALCL																																p.E33G		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	CLTCL1	115	.	0			c.A98G						.						68.0	64.0	65.0					22																	19263298		1952	4142	6094	SO:0001583	missense	8218	exon2			TCAGATTCCATGG		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.98A>G	chr22.hg19:g.19263298T>C	ENSP00000445677:p.Glu33Gly	157.0	0.0		85.0	4.0	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	hg19	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016323	0.75161	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.2	2.04	0.26737	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.92317	3.295	0.58432	D	0.999997	P;B	0.51933	0.949;0.373	P;P	0.61201	0.885;0.475	T	0.78404	-0.2217	10	0.59425	D	0.04	-13.1117	6.7597	0.23534	0.0:0.0814:0.153:0.7657	.	33;33	P53675-2;P53675	.;CLH2_HUMAN	G	33	ENSP00000439662:E33G;ENSP00000445677:E33G;ENSP00000441158:E33G;ENSP00000443264:E33G	ENSP00000445677:E33G	E	-	2	0	CLTCL1	17643298	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	4.284000	0.58983	0.183000	0.20059	0.528000	0.53228	GAA	.	.		0.418	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
CHEK2	11200	hgsc.bcm.edu	37	22	29130547	29130547	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:29130547A>G	ENST00000405598.1	-	3	354	c.163T>C	c.(163-165)Tcc>Ccc	p.S55P	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.S55P|CHEK2_ENST00000382565.1_Missense_Mutation_p.S55P|CHEK2_ENST00000382566.1_Missense_Mutation_p.S55P|CHEK2_ENST00000328354.6_Missense_Mutation_p.S55P|CHEK2_ENST00000348295.3_Missense_Mutation_p.S55P|CHEK2_ENST00000403642.1_Missense_Mutation_p.S55P|CHEK2_ENST00000382580.2_Missense_Mutation_p.S55P|CHEK2_ENST00000404276.1_Missense_Mutation_p.S55P|CHEK2_ENST00000382578.1_Missense_Mutation_p.S55P			O96017	CHK2_HUMAN	checkpoint kinase 2	55					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAGAGCTGGAGTGAGAGGAC	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.S55P		Atlas-SNP	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2	438	.	0			c.T163C						.						131.0	122.0	125.0					22																	29130547		2203	4300	6503	SO:0001583	missense	11200	exon2			AGCTGGAGTGAGA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.163T>C	chr22.hg19:g.29130547A>G	ENSP00000386087:p.Ser55Pro	204.0	0.0		90.0	4.0	NM_145862	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	hg19	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618529	0.87359	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.94931	0.51;-0.34;-0.67;-3.56;-0.47;-0.47;-0.47;2.21;-0.34;0.51;-0.09;2.21;-2.73	5.42	5.42	0.78866	.	0.093533	0.85682	D	0.000000	D	0.96204	0.8762	M	0.63843	1.955	0.44880	D	0.997895	D;D;D;D;D;D	0.76494	0.999;0.998;0.996;0.999;0.996;0.998	D;P;P;D;P;P	0.67548	0.952;0.905;0.806;0.952;0.806;0.905	D	0.95881	0.8899	10	0.45353	T	0.12	-7.3497	14.9384	0.70975	1.0:0.0:0.0:0.0	.	55;55;55;55;55;55	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	P	55;55;55;55;55;55;55;55;55;55;55;55;55;65	ENSP00000329012:S55P;ENSP00000372021:S55P;ENSP00000372006:S55P;ENSP00000372007:S55P;ENSP00000329178:S55P;ENSP00000385747:S55P;ENSP00000386087:S55P;ENSP00000372023:S55P;ENSP00000384919:S55P;ENSP00000384835:S55P;ENSP00000397478:S55P;ENSP00000408065:S55P;ENSP00000381099:S65P	ENSP00000329178:S55P	S	-	1	0	CHEK2	27460547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.012000	0.70767	2.184000	0.69523	0.533000	0.62120	TCC	.	.		0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
RHBDD3	25807	hgsc.bcm.edu	37	22	29656351	29656351	+	Missense_Mutation	SNP	G	G	T	rs375477818		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:29656351G>T	ENST00000216085.7	-	6	1371	c.947C>A	c.(946-948)gCa>gAa	p.A316E	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	316					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CAGCCATGGTGCGCTCTGGGG	0.667																																					p.A316E		Atlas-SNP	.											.	RHBDD3	17	.	0			c.C947A						.						24.0	23.0	23.0					22																	29656351		2200	4299	6499	SO:0001583	missense	25807	exon6			CATGGTGCGCTCT	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.947C>A	chr22.hg19:g.29656351G>T	ENSP00000216085:p.Ala316Glu	171.0	0.0		84.0	4.0	NM_012265	Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	hg19	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727020	0.00694	.	.	ENSG00000100263	ENST00000216085	T	0.21031	2.03	5.18	4.06	0.47325	UBA-like (1);	0.634631	0.14675	N	0.305127	T	0.07369	0.0186	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37478	-0.9704	10	0.10636	T	0.68	-1.3315	5.475	0.16690	0.0993:0.0:0.6482:0.2525	.	316	Q9Y3P4	RHBD3_HUMAN	E	316	ENSP00000216085:A316E	ENSP00000216085:A316E	A	-	2	0	RHBDD3	27986351	0.000000	0.05858	0.016000	0.15963	0.185000	0.23345	0.740000	0.26188	2.591000	0.87537	0.643000	0.83706	GCA	.	.		0.667	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265	
SEC14L4	284904	hgsc.bcm.edu	37	22	30890136	30890136	+	Splice_Site	SNP	C	C	T			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:30890136C>T	ENST00000255858.7	-	7	664		c.e7+1		RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site|SEC14L4_ENST00000381982.3_Splice_Site	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CATGGGCTTACCTCGAATAAC	0.478																																					.		Atlas-SNP	.											.	SEC14L4	43	.	0			c.580+1G>A						.						91.0	91.0	91.0					22																	30890136		2203	4300	6503	SO:0001630	splice_region_variant	284904	exon8			GGCTTACCTCGAA	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.580+1G>A	chr22.hg19:g.30890136C>T		185.0	0.0		91.0	4.0	NM_174977	A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	hg19	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055302	0.55325	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC14L4	29220136	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	6.007000	0.70731	2.593000	0.87608	0.591000	0.81541	.	.	.		0.478	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Intron
ELFN2	114794	hgsc.bcm.edu	37	22	37771035	37771035	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:37771035A>G	ENST00000402918.2	-	3	1325	c.540T>C	c.(538-540)tgT>tgC	p.C180C	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	180					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGCCAGCTCACACACCATCA	0.632																																					p.C180C		Atlas-SNP	.											.	ELFN2	89	.	0			c.T540C						.						42.0	45.0	44.0					22																	37771035		2203	4298	6501	SO:0001819	synonymous_variant	114794	exon3			CAGCTCACACACC	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.540T>C	chr22.hg19:g.37771035A>G		160.0	0.0		94.0	4.0	NM_052906	Q96PY3	Silent	SNP	ENST00000402918.2	hg19	CCDS33642.1																																																																																			.	.		0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
TAB1	10454	hgsc.bcm.edu	37	22	39824030	39824030	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:39824030A>G	ENST00000216160.6	+	10	1211	c.1149A>G	c.(1147-1149)gcA>gcG	p.A383A	TAB1_ENST00000331454.3_Silent_p.A383A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	383					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCAAAGCTGCAGGAGGACGAG	0.632																																					p.A383A		Atlas-SNP	.											.	TAB1	36	.	0			c.A1149G						.						97.0	81.0	86.0					22																	39824030		2203	4300	6503	SO:0001819	synonymous_variant	10454	exon10			AGCTGCAGGAGGA	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1149A>G	chr22.hg19:g.39824030A>G		91.0	0.0		63.0	4.0	NM_153497	Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	hg19	CCDS13993.1																																																																																			.	.		0.632	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50656199	50656199	+	Missense_Mutation	SNP	C	C	T	rs540957245		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:50656199C>T	ENST00000248846.5	-	25	5530	c.5426G>A	c.(5425-5427)cGc>cAc	p.R1809H	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1809					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAAGTTGATGCGCAGCAGAAA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		15018	0.0		0.0	False		,,,				2504	0.001				p.R1809H		Atlas-SNP	.											.	TUBGCP6	132	.	0			c.G5426A						.						75.0	72.0	73.0					22																	50656199		2203	4300	6503	SO:0001583	missense	85378	exon25			TTGATGCGCAGCA	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5426G>A	chr22.hg19:g.50656199C>T	ENSP00000248846:p.Arg1809His	176.0	0.0		61.0	4.0	NM_020461	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417971	0.83449	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.29917	2.41;1.55	5.02	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.978;1.0;1.0	B;D;D	0.91635	0.299;0.964;0.999	T	0.52689	-0.8542	10	0.66056	D	0.02	.	13.5312	0.61623	0.0:0.9235:0.0:0.0765	.	1801;1809;1792	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	H	1809;478	ENSP00000248846:R1809H;ENSP00000405979:R478H	ENSP00000248846:R1809H	R	-	2	0	TUBGCP6	48998326	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.831000	0.69330	1.094000	0.41399	0.555000	0.69702	CGC	.	.		0.597	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
SCO2	9997	hgsc.bcm.edu	37	22	50962276	50962276	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr22:50962276A>G	ENST00000543927.1	-	2	771	c.565T>C	c.(565-567)Ttg>Ctg	p.L189L	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Silent_p.L189L|SCO2_ENST00000252785.3_Silent_p.L189L|SCO2_ENST00000395693.3_Silent_p.L189L	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	189	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCAGACCCAACAGTCTTGGG	0.587																																					p.L189L		Atlas-SNP	.											.	SCO2	38	.	0			c.T565C						.						105.0	93.0	97.0					22																	50962276		2203	4300	6503	SO:0001819	synonymous_variant	9997	exon2			GACCCAACAGTCT	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.565T>C	chr22.hg19:g.50962276A>G		180.0	0.0		93.0	4.0	NM_001169111	Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	hg19	CCDS14095.1																																																																																			.	.		0.587	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138	
ARSE	415	hgsc.bcm.edu	37	X	2876322	2876322	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:2876322T>C	ENST00000381134.3	-	3	244	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000545496.1_Missense_Mutation_p.T85A|ARSE_ENST00000540563.1_Intron	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	60					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCCTCATGGTGTTGTTGCCA	0.522																																					p.T60A		Atlas-SNP	.											.	ARSE	43	.	0			c.A178G						.						104.0	77.0	86.0					X																	2876322		2203	4300	6503	SO:0001583	missense	415	exon3			TCATGGTGTTGTT	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.178A>G	chrX.hg19:g.2876322T>C	ENSP00000370526:p.Thr60Ala	207.0	0.0		67.0	5.0	NM_000047	Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	hg19	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397915	0.42512	.	.	ENSG00000157399	ENST00000545496;ENST00000381134;ENST00000438544	D;D;D	0.98717	-5.09;-5.09;-5.09	3.62	3.62	0.41486	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.306749	0.34245	N	0.004127	D	0.97845	0.9292	M	0.75447	2.3	0.28704	N	0.903939	B;B	0.23377	0.084;0.003	B;B	0.34346	0.18;0.038	D	0.97024	0.9745	10	0.87932	D	0	.	11.761	0.51903	0.0:0.0:0.0:1.0	.	85;60	F5GYY5;P51690	.;ARSE_HUMAN	A	85;60;60	ENSP00000441417:T85A;ENSP00000370526:T60A;ENSP00000406528:T60A	ENSP00000370526:T60A	T	-	1	0	ARSE	2886322	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	3.702000	0.54800	1.277000	0.44412	0.486000	0.48141	ACC	.	.		0.522	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
GPM6B	2824	hgsc.bcm.edu	37	X	13803853	13803853	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:13803853A>G	ENST00000356942.5	-	2	577	c.136T>C	c.(136-138)Tcc>Ccc	p.S46P	GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000316715.4_Missense_Mutation_p.S86P|GPM6B_ENST00000355135.2_Missense_Mutation_p.S86P|GPM6B_ENST00000493677.1_Missense_Mutation_p.S60P|GPM6B_ENST00000454189.2_Missense_Mutation_p.S27P	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	46					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GCCACCCCGGAGAAGCAGAGG	0.572																																					p.S86P		Atlas-SNP	.											.	GPM6B	46	.	0			c.T256C						.						56.0	51.0	53.0					X																	13803853		2203	4300	6503	SO:0001583	missense	2824	exon3			CCCCGGAGAAGCA		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.136T>C	chrX.hg19:g.13803853A>G	ENSP00000349420:p.Ser46Pro	352.0	0.0		119.0	5.0	NM_001001995	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	hg19	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882895	0.91740	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.983;0.993;0.994;0.976;0.997	P;P;P;P;P;D	0.68483	0.828;0.736;0.876;0.878;0.828;0.958	D	0.99474	1.0946	10	0.46703	T	0.11	-1.6883	14.9261	0.70878	1.0:0.0:0.0:0.0	.	60;27;46;86;38;86	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	P	86;27;60;86;46;46	ENSP00000316861:S86P;ENSP00000389915:S27P;ENSP00000419904:S60P;ENSP00000347258:S86P;ENSP00000349420:S46P;ENSP00000418594:S46P	ENSP00000316861:S86P	S	-	1	0	GPM6B	13713774	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.007000	0.76335	1.907000	0.55213	0.486000	0.48141	TCC	.	.		0.572	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995	
CXorf38	159013	hgsc.bcm.edu	37	X	40489973	40489973	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:40489973A>G	ENST00000327877.5	-	6	880	c.854T>C	c.(853-855)cTt>cCt	p.L285P	CXorf38_ENST00000378421.1_Missense_Mutation_p.L166P|CXorf38_ENST00000378426.1_Missense_Mutation_p.L166P|CXorf38_ENST00000440784.2_Missense_Mutation_p.L200P	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	285										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCCATTTCTAAGATCCTCATT	0.433																																					p.L285P		Atlas-SNP	.											.	CXorf38	29	.	0			c.T854C						.						157.0	123.0	134.0					X																	40489973		2203	4300	6503	SO:0001583	missense	159013	exon6			TTTCTAAGATCCT	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.854T>C	chrX.hg19:g.40489973A>G	ENSP00000330488:p.Leu285Pro	199.0	0.0		67.0	4.0	NM_144970	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	hg19	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	a	20.5	3.999416	0.74818	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	T	0.78698	0.4324	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68483	0.958;0.943	T	0.81046	-0.1110	10	0.87932	D	0	-20.1348	12.3606	0.55201	1.0:0.0:0.0:0.0	.	200;285	E7EN46;Q8TB03	.;CX038_HUMAN	P	166;285;166;200	ENSP00000367683:L166P;ENSP00000330488:L285P;ENSP00000367677:L166P;ENSP00000400019:L200P	ENSP00000330488:L285P	L	-	2	0	CXorf38	40374917	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.715000	0.61909	1.907000	0.55213	0.483000	0.47432	CTT	.	.		0.433	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970	
EFHC2	80258	hgsc.bcm.edu	37	X	44109537	44109537	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:44109537A>G	ENST00000420999.1	-	5	844	c.761T>C	c.(760-762)tTc>tCc	p.F254S		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	254	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ATCACACAAGAAGTAATGCAG	0.448																																					p.F254S		Atlas-SNP	.											.	EFHC2	81	.	0			c.T761C						.						81.0	70.0	74.0					X																	44109537		1934	4125	6059	SO:0001583	missense	80258	exon5			CACAAGAAGTAAT	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.761T>C	chrX.hg19:g.44109537A>G	ENSP00000404232:p.Phe254Ser	184.0	0.0		60.0	4.0	NM_025184	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	hg19	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441764	0.25900	.	.	ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056	T;T	0.59083	0.29;0.29	5.8	3.31	0.37934	Uncharacterised domain DM10 (2);	0.238136	0.41712	D	0.000838	T	0.78046	0.4222	M	0.91090	3.175	0.38279	D	0.942374	D	0.71674	0.998	D	0.70935	0.971	T	0.80973	-0.1143	10	0.87932	D	0	-14.1999	10.4636	0.44594	0.4759:0.0:0.0:0.5241	.	254	Q5JST6	EFHC2_HUMAN	S	254;282;58	ENSP00000333823:F254S;ENSP00000404232:F282S	ENSP00000333823:F254S	F	-	2	0	EFHC2	43994481	1.000000	0.71417	0.017000	0.16124	0.019000	0.09904	2.001000	0.40825	0.257000	0.21650	-0.367000	0.07326	TTC	.	.		0.448	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	
ZNF81	347344	hgsc.bcm.edu	37	X	47775710	47775710	+	Silent	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:47775710T>C	ENST00000376954.1	+	6	2033	c.1665T>C	c.(1663-1665)gtT>gtC	p.V555V	ZNF81_ENST00000338637.7_Silent_p.V555V			P51508	ZNF81_HUMAN	zinc finger protein 81	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AACCCTATGTTTGTGCTGATT	0.423																																					p.V555V		Atlas-SNP	.											.	ZNF81	60	.	0			c.T1665C						.						55.0	54.0	54.0					X																	47775710		2148	4268	6416	SO:0001819	synonymous_variant	347344	exon5			CTATGTTTGTGCT	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1665T>C	chrX.hg19:g.47775710T>C		211.0	0.0		86.0	4.0	NM_007137	Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	hg19	CCDS43933.1																																																																																			.	.		0.423	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
NHSL2	340527	hgsc.bcm.edu	37	X	71358563	71358563	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:71358563T>C	ENST00000373677.1	+	2	1329	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	NHSL2_ENST00000535692.1_Missense_Mutation_p.S23P|NHSL2_ENST00000540800.1_Missense_Mutation_p.S389P|NHSL2_ENST00000510661.1_Missense_Mutation_p.S158P			Q5HYW2	NHSL2_HUMAN	NHS-like 2	23										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCAACCTTCTCCACTTCCTG	0.507																																					p.S389P		Atlas-SNP	.											.	NHSL2	148	.	0			c.T1165C						.						98.0	73.0	81.0					X																	71358563		2203	4300	6503	SO:0001583	missense	340527	exon6			ACCTTCTCCACTT			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.67T>C	chrX.hg19:g.71358563T>C	ENSP00000362781:p.Ser23Pro	318.0	0.0		107.0	5.0	NM_001013627	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.55	2.865937	0.51588	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.57436	1.01;0.47;0.4;0.47	5.88	5.88	0.94601	.	0.063088	0.64402	D	0.000004	T	0.67951	0.2948	L	0.56769	1.78	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.68693	-0.5341	10	0.48119	T	0.1	-12.7071	12.9953	0.58644	0.0:0.0:0.0:1.0	.	389;158;23	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	P	389;23;158;23	ENSP00000444617:S389P;ENSP00000362781:S23P;ENSP00000424079:S158P;ENSP00000444914:S23P	ENSP00000362781:S23P	S	+	1	0	NHSL2	71275288	1.000000	0.71417	0.970000	0.41538	0.934000	0.57294	3.477000	0.53151	1.977000	0.57605	0.441000	0.28932	TCC	.	.		0.507	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
IL13RA1	3597	hgsc.bcm.edu	37	X	117874980	117874980	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:117874980A>G	ENST00000371666.3	+	2	156	c.89A>G	c.(88-90)gAa>gGa	p.E30G	IL13RA1_ENST00000371642.1_Splice_Site_p.E30G|SNORA35_ENST00000458908.1_RNA	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	30					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATTTGAACAGAAACTCAGCCA	0.383																																					p.E30G		Atlas-SNP	.											.	IL13RA1	41	.	0			c.A89G						.						99.0	96.0	97.0					X																	117874980		2203	4300	6503	SO:0001630	splice_region_variant	3597	exon2			GAACAGAAACTCA	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.89-1A>G	chrX.hg19:g.117874980A>G		129.0	0.0		37.0	4.0	NM_001560	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	hg19	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396737	0.42512	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.93859	-2.81;-3.3	5.61	4.44	0.53790	.	0.647706	0.14237	N	0.332323	D	0.87241	0.6128	L	0.27053	0.805	0.80722	D	1	P;P;P	0.43094	0.792;0.792;0.799	B;B;B	0.40329	0.326;0.326;0.214	T	0.80928	-0.1163	9	.	.	.	.	7.2704	0.26254	0.899:0.0:0.101:0.0	.	30;30;30	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	G	30	ENSP00000360730:E30G;ENSP00000360705:E30G	.	E	+	2	0	IL13RA1	117759008	0.996000	0.38824	0.991000	0.47740	0.732000	0.41865	1.529000	0.35996	0.752000	0.32923	0.486000	0.48141	GAA	.	.		0.383	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	Missense_Mutation
SLC25A5	292	hgsc.bcm.edu	37	X	118604919	118604919	+	Silent	SNP	A	A	G			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:118604919A>G	ENST00000317881.8	+	4	911	c.795A>G	c.(793-795)gaA>gaG	p.E265E	SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	265					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CTCGTGATGAAGGAGGCAAAG	0.458																																					p.E265E		Atlas-SNP	.											.	SLC25A5	33	.	0			c.A795G						.						107.0	81.0	90.0					X																	118604919		2203	4300	6503	SO:0001819	synonymous_variant	292	exon4			TGATGAAGGAGGC	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.795A>G	chrX.hg19:g.118604919A>G		283.0	0.0		94.0	4.0	NM_001152	B2RCV1|O43350	Silent	SNP	ENST00000317881.8	hg19	CCDS14578.1																																																																																			.	.		0.458	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152	
TENM1	10178	hgsc.bcm.edu	37	X	123654550	123654550	+	Silent	SNP	G	G	A			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chrX:123654550G>A	ENST00000371130.3	-	18	3181	c.3118C>T	c.(3118-3120)Cta>Tta	p.L1040L	TENM1_ENST00000422452.2_Silent_p.L1040L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1040					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)										AGGATCCGTAGCAGGGTTTTA	0.483																																					p.L1040L		Atlas-SNP	.											.	.	.	.	0			c.C3118T						.						86.0	78.0	81.0					X																	123654550		2203	4300	6503	SO:0001819	synonymous_variant	10178	exon18			TCCGTAGCAGGGT	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.3118C>T	chrX.hg19:g.123654550G>A		325.0	1.0		79.0	56.0	NM_001163278	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	hg19	CCDS14609.1																																																																																			.	.		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
AXIN1	8312	hgsc.bcm.edu	37	16	364598	364598	+	Frame_Shift_Del	DEL	C	C	-	rs377639730		TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr16:364598delC	ENST00000262320.3	-	3	1335	c.964delG	c.(964-966)gagfs	p.E322fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.E322fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	322	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E322fs*92(1)|p.E322K(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTGCTGCTCGCTGTCGTTG	0.622																																					p.E322fs		Atlas-Indel,Pindel	.											.	AXIN1	290	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	biliary_tract(1)|liver(1)	c.965delA						.						78.0	61.0	67.0					16																	364598		2203	4300	6503	SO:0001589	frameshift_variant	8312	exon3			.	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.964delG	chr16.hg19:g.364598delC	ENSP00000262320:p.Glu322fs	112.0	0.0		37.0	25.0	NM_003502	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	ENST00000262320.3	hg19	CCDS10405.1																																																																																			.	.		0.622	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
MDC1	9656	hgsc.bcm.edu	37	6	30680046	30680046	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr6:30680046delC	ENST00000376406.3	-	5	2320	c.1673delG	c.(1672-1674)ggafs	p.G558fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.G558fs|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	558	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTTGCTGGTCCCCCAACTGC	0.522								Other conserved DNA damage response genes																													p.G558fs		Atlas-Indel,Pindel	.											.	MDC1	218	.	0			c.1674delA						.						73.0	69.0	71.0					6																	30680046		1509	2709	4218	SO:0001589	frameshift_variant	9656	exon5			.	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1673delG	chr6.hg19:g.30680046delC	ENSP00000365588:p.Gly558fs	245.0	0.0		214.0	41.0	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	ENST00000376406.3	hg19	CCDS34384.1																																																																																			.	.		0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
SUPT16H	11198	hgsc.bcm.edu	37	14	21829290	21829311	+	Frame_Shift_Del	DEL	TAATAATTCGGAAAGCATTCTG	TAATAATTCGGAAAGCATTCTG	-			TCGA-DD-A39Z-01A-11D-A20W-10	TCGA-DD-A39Z-11A-21D-A20W-10	TAATAATTCGGAAAGCATTCTG	TAATAATTCGGAAAGCATTCTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b5d662f8-35c9-4f38-9e23-10cd6e522078	7dbbd52e-3044-4bd2-8839-4471df1bd1dc	g.chr14:21829290_21829311delTAATAATTCGGAAAGCATTCTG	ENST00000216297.2	-	16	2193_2214	c.1855_1876delCAGAATGCTTTCCGAATTATTA	c.(1855-1878)cagaatgctttccgaattattaaafs	p.QNAFRIIK619fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	619					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTACTTCTTTAATAATTCGGAAAGCATTCTGAAGGTTCAAG	0.396																																					p.619_626del		Pindel	.											.	SUPT16H	84	.	0			c.1856_1877del						.																																			SO:0001589	frameshift_variant	11198	exon16			.	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1855_1876delCAGAATGCTTTCCGAATTATTA	chr14.hg19:g.21829290_21829311delTAATAATTCGGAAAGCATTCTG	ENSP00000216297:p.Gln619fs	0.0	0.0		91.0	15.0	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Del	DEL	ENST00000216297.2	hg19	CCDS9569.1																																																																																			.	.		0.396	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
