#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
CHD5	26038	hgsc.bcm.edu	37	1	6211179	6211179	+	Missense_Mutation	SNP	T	T	A	rs140594423		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:6211179T>A	ENST00000262450.3	-	7	1006	c.907A>T	c.(907-909)Agc>Tgc	p.S303C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGCTGGCGCTGTCGAAGTCC	0.607																																					p.S303C		Atlas-SNP	.											.	CHD5	267	.	0			c.A907T						.						99.0	86.0	90.0					1																	6211179		2203	4300	6503	SO:0001583	missense	26038	exon7			TGGCGCTGTCGAA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.907A>T	chr1.hg19:g.6211179T>A	ENSP00000262450:p.Ser303Cys	44.0	0.0		26.0	8.0	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	18.78	3.697786	0.68386	.	.	ENSG00000116254	ENST00000262450	D	0.91351	-2.83	4.0	2.87	0.33458	.	0.221134	0.37761	U	0.001955	D	0.84428	0.5470	L	0.47716	1.5	0.80722	D	1	B	0.32918	0.39	B	0.25506	0.061	T	0.80455	-0.1375	10	0.59425	D	0.04	-6.8704	8.9636	0.35863	0.0:0.0898:0.0:0.9102	.	303	Q8TDI0	CHD5_HUMAN	C	303	ENSP00000262450:S303C	ENSP00000262450:S303C	S	-	1	0	CHD5	6133766	1.000000	0.71417	0.862000	0.33874	0.949000	0.60115	4.459000	0.60102	0.562000	0.29204	0.375000	0.23000	AGC	.	T|1.000;G|0.000		0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
ZBTB48	3104	hgsc.bcm.edu	37	1	6641168	6641168	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:6641168A>T	ENST00000377674.4	+	2	657	c.499A>T	c.(499-501)Aga>Tga	p.R167*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	167					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)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGGAGCCCAGAGGCAGTCA	0.597																																					p.R167X	Esophageal Squamous(125;1449 1657 4031 29866 49542)	Atlas-SNP	.											.	ZBTB48	33	.	0			c.A499T						.						44.0	49.0	47.0					1																	6641168		2202	4300	6502	SO:0001587	stop_gained	3104	exon2			GAGCCCAGAGGCA	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.499A>T	chr1.hg19:g.6641168A>T	ENSP00000366902:p.Arg167*	95.0	0.0		77.0	33.0	NM_005341	Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	hg19	CCDS84.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.961527	0.92791	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	.	.	.	5.5	-2.94	0.05581	.	1.203510	0.05511	N	0.560217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.1369	1.7132	0.02896	0.3068:0.1516:0.3758:0.1658	.	.	.	.	X	167	.	ENSP00000313416:R167X	R	+	1	2	ZBTB48	6563755	0.000000	0.05858	0.001000	0.08648	0.934000	0.57294	-0.438000	0.06905	-0.135000	0.11495	0.533000	0.62120	AGA	.	.		0.597	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	
MTOR	2475	hgsc.bcm.edu	37	1	11301649	11301649	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:11301649A>T	ENST00000361445.4	-	10	1578	c.1502T>A	c.(1501-1503)aTc>aAc	p.I501N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	501	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAGCTCCTTGATATCCTGCTG	0.577											OREG0013097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I501N		Atlas-SNP	.											.	MTOR	327	.	0			c.T1502A						.						80.0	71.0	74.0					1																	11301649		2203	4300	6503	SO:0001583	missense	2475	exon10			TCCTTGATATCCT	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1502T>A	chr1.hg19:g.11301649A>T	ENSP00000354558:p.Ile501Asn	65.0	0.0	671	80.0	25.0	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692141	0.68271	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68479	-0.33	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (2);	0.057436	0.64402	D	0.000001	T	0.69052	0.3068	M	0.62723	1.935	0.80722	D	1	P	0.43094	0.799	B	0.43575	0.424	T	0.73855	-0.3851	10	0.87932	D	0	-7.3906	15.9756	0.80060	1.0:0.0:0.0:0.0	.	501	P42345	MTOR_HUMAN	N	501	ENSP00000354558:I501N	ENSP00000354558:I501N	I	-	2	0	MTOR	11224236	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.830000	0.92063	2.171000	0.68590	0.533000	0.62120	ATC	.	.		0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
MST1L	11223	hgsc.bcm.edu	37	1	17085815	17085815	+	RNA	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:17085815C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CAAAAGCCCACGCGCGTGCCG	0.662																																					p.V336M		Atlas-SNP	.											.	.	.	.	0			c.G1006A						.																																					11223	exon8			AGCCCACGCGCGT	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		chr1.hg19:g.17085815C>T		143.0	0.0		98.0	22.0	NM_001271733	B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	hg19		.	.	.	.	.	.	.	.	.	.	.	8.211	0.800420	0.16397	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.879513	0.09412	N	0.805635	T	0.19525	0.0469	.	.	.	.	.	.	B	0.32507	0.373	B	0.20577	0.03	T	0.18840	-1.0324	6	0.48119	T	0.1	.	2.6652	0.05046	0.0:0.5:0.0:0.5	.	336	Q2TV78-2	.	M	326;336;336	.	ENSP00000439273:V336M	V	-	1	0	MST1P9	16958402	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.399000	0.34566	-0.000000	0.14550	0.000000	0.15137	GTG	.	.		0.662	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
CROCC	9696	hgsc.bcm.edu	37	1	17280852	17280852	+	Splice_Site	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:17280852G>T	ENST00000375541.5	+	22	3390	c.3321G>T	c.(3319-3321)cgG>cgT	p.R1107R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGGACCGGGTAGGGCAGG	0.652																																					p.R1107R		Atlas-SNP	.											.	CROCC	185	.	0			c.G3321T						.						30.0	33.0	32.0					1																	17280852		2202	4298	6500	SO:0001630	splice_region_variant	9696	exon22			GGACCGGGTAGGG	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3321+1G>T	chr1.hg19:g.17280852G>T		148.0	0.0		102.0	47.0	NM_014675		Silent	SNP	ENST00000375541.5	hg19	CCDS30616.1																																																																																			.	.		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	Silent
ARHGEF10L	55160	hgsc.bcm.edu	37	1	17975106	17975106	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:17975106C>G	ENST00000361221.3	+	22	2489	c.2330C>G	c.(2329-2331)cCa>cGa	p.P777R	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P738R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P480R|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P772R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P738R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P550R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	777						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCAAAGCCCCATTCTGGTGC	0.617																																					p.P777R		Atlas-SNP	.											.	ARHGEF10L	219	.	0			c.C2330G						.						81.0	75.0	77.0					1																	17975106		2203	4300	6503	SO:0001583	missense	55160	exon22			AAGCCCCATTCTG	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2330C>G	chr1.hg19:g.17975106C>G	ENSP00000355060:p.Pro777Arg	137.0	0.0		142.0	12.0	NM_018125	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	hg19	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373329	0.61624	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.58940	0.54;0.57;0.36;0.57;0.3;2.55	4.95	4.95	0.65309	.	0.339865	0.30830	N	0.008788	T	0.62478	0.2431	M	0.75264	2.295	0.53005	D	0.999969	B;B;P;B;B;P;P	0.43701	0.093;0.151;0.674;0.012;0.151;0.815;0.583	B;B;B;B;B;B;B	0.42692	0.042;0.091;0.395;0.013;0.091;0.395;0.222	T	0.66156	-0.5994	10	0.40728	T	0.16	-21.1273	17.0971	0.86638	0.0:1.0:0.0:0.0	.	550;772;480;538;733;738;777	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	R	777;738;772;738;550;550;480	ENSP00000355060:P777R;ENSP00000399401:P738R;ENSP00000394621:P772R;ENSP00000364564:P738R;ENSP00000364557:P550R;ENSP00000167825:P480R	ENSP00000167825:P480R	P	+	2	0	ARHGEF10L	17847693	0.950000	0.32346	0.984000	0.44739	0.996000	0.88848	2.047000	0.41269	2.443000	0.82685	0.591000	0.81541	CCA	.	.		0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
IFNLR1	163702	hgsc.bcm.edu	37	1	24486039	24486039	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:24486039T>A	ENST00000327535.1	-	5	607	c.595A>T	c.(595-597)Aga>Tga	p.R199*	IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R199*|IFNLR1_ENST00000327575.2_Nonsense_Mutation_p.R199*|IFNLR1_ENST00000374419.1_Nonsense_Mutation_p.R116*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	199					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											TAGATGGTTCTGGCACTGAGG	0.537																																					p.R199X		Atlas-SNP	.											.	.	.	.	0			c.A595T						.						127.0	113.0	118.0					1																	24486039		2203	4300	6503	SO:0001587	stop_gained	163702	exon5			TGGTTCTGGCACT	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.595A>T	chr1.hg19:g.24486039T>A	ENSP00000327824:p.Arg199*	198.0	0.0		137.0	50.0	NM_170743	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Nonsense_Mutation	SNP	ENST00000327535.1	hg19	CCDS248.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.041983	0.93685	.	.	ENSG00000185436	ENST00000327535;ENST00000327575;ENST00000374421;ENST00000374419	.	.	.	5.89	4.72	0.59763	.	0.394001	0.30419	N	0.009667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9947	10.2521	0.43375	0.0:0.0:0.1648:0.8352	.	.	.	.	X	199;199;199;116	.	ENSP00000327824:R199X	R	-	1	2	IL28RA	24358626	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.113000	0.41902	2.254000	0.74563	0.459000	0.35465	AGA	.	.		0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
COL16A1	1307	hgsc.bcm.edu	37	1	32149574	32149574	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:32149574G>A	ENST00000373672.3	-	33	2830	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S	COL16A1_ENST00000373668.3_Missense_Mutation_p.P772S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P771S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	772	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGGGGCCCTTGAACT	0.627																																					p.P772S	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											.	COL16A1	137	.	0			c.C2314T						.						49.0	54.0	52.0					1																	32149574		1938	4126	6064	SO:0001583	missense	1307	exon33			CTGGGGGCCCTTG	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2314C>T	chr1.hg19:g.32149574G>A	ENSP00000362776:p.Pro772Ser	357.0	0.0		285.0	106.0	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	hg19	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721636	0.68959	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.97665	-4.48;-4.48;-4.48	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.71920	2.185	0.45139	D	0.998154	D;D;D	0.89917	1.0;0.982;0.99	D;P;P	0.75484	0.986;0.778;0.889	D	0.97165	0.9840	10	0.31617	T	0.26	.	15.881	0.79205	0.0:0.0:1.0:0.0	.	772;772;772	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	772;771;772	ENSP00000362776:P772S;ENSP00000271069:P771S;ENSP00000362772:P772S	ENSP00000271069:P771S	P	-	1	0	COL16A1	31922161	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.890000	0.63178	2.664000	0.90586	0.491000	0.48974	CCC	.	.		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
ZMYM4	9202	hgsc.bcm.edu	37	1	35884117	35884117	+	Silent	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:35884117T>C	ENST00000314607.6	+	29	4463	c.4383T>C	c.(4381-4383)aaT>aaC	p.N1461N	ZMYM4_ENST00000373297.2_Silent_p.N1372N	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1461					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCAGAGAATACTGACAATC	0.418																																					p.N1461N		Atlas-SNP	.											.	ZMYM4	143	.	0			c.T4383C						.						144.0	130.0	135.0					1																	35884117		2203	4300	6503	SO:0001819	synonymous_variant	9202	exon29			AGAGAATACTGAC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4383T>C	chr1.hg19:g.35884117T>C		134.0	0.0		120.0	62.0	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	hg19	CCDS389.1	.	.	.	.	.	.	.	.	.	.	T	9.932	1.215030	0.22373	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.84	1.1	0.20463	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	-17.0879	10.1377	0.42717	0.0:0.4986:0.0:0.5014	.	.	.	.	H	1120	.	.	Y	+	1	0	ZMYM4	35656704	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	0.083000	0.14871	0.154000	0.19237	0.528000	0.53228	TAC	.	.		0.418	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
RIMS3	9783	hgsc.bcm.edu	37	1	41094561	41094561	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:41094561T>A	ENST00000372684.3	-	7	1104	c.635A>T	c.(634-636)aAg>aTg	p.K212M	RIMS3_ENST00000372683.1_Missense_Mutation_p.K212M	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	212	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CTTGGTCATCTTTGTCTTCTT	0.552																																					p.K212M		Atlas-SNP	.											.	RIMS3	44	.	0			c.A635T						.						171.0	156.0	162.0					1																	41094561		2203	4300	6503	SO:0001583	missense	9783	exon7			GTCATCTTTGTCT	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.635A>T	chr1.hg19:g.41094561T>A	ENSP00000361769:p.Lys212Met	77.0	0.0		62.0	26.0	NM_014747	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	hg19	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140833	0.56936	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	D;D	0.81739	-1.53;-1.53	4.92	2.56	0.30785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.127164	0.64402	D	0.000001	D	0.87939	0.6304	M	0.88310	2.945	0.54753	D	0.999988	D	0.71674	0.998	D	0.68621	0.959	D	0.85953	0.1465	10	0.56958	D	0.05	-17.9447	5.2343	0.15439	0.0:0.3145:0.0:0.6855	.	212	Q9UJD0	RIMS3_HUMAN	M	212	ENSP00000361769:K212M;ENSP00000361768:K212M	ENSP00000361768:K212M	K	-	2	0	RIMS3	40867148	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.704000	0.47118	0.899000	0.36444	0.402000	0.26972	AAG	.	.		0.552	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
EIF2B3	8891	hgsc.bcm.edu	37	1	45340421	45340421	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:45340421T>A	ENST00000360403.2	-	10	1257	c.1131A>T	c.(1129-1131)tcA>tcT	p.S377S	EIF2B3_ENST00000372183.3_Silent_p.S377S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	377					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGAGACAGGATGAGCCAATGA	0.453																																					p.S377S	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.A1131T						.						198.0	185.0	190.0					1																	45340421		2203	4300	6503	SO:0001819	synonymous_variant	8891	exon10			ACAGGATGAGCCA	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1131A>T	chr1.hg19:g.45340421T>A		111.0	0.0		89.0	45.0	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	hg19	CCDS517.1	.	.	.	.	.	.	.	.	.	.	T	9.105	1.005200	0.19199	.	.	ENSG00000070785	ENST00000439363	.	.	.	5.52	1.77	0.24775	.	.	.	.	.	T	0.68403	0.2997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66352	-0.5945	4	.	.	.	-4.2574	14.4673	0.67492	0.0:0.0:0.7069:0.2931	.	.	.	.	L	198	.	.	H	-	2	0	EIF2B3	45113008	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	1.573000	0.36472	0.343000	0.23821	0.533000	0.62120	CAT	.	.		0.453	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365	
KANK4	163782	hgsc.bcm.edu	37	1	62740090	62740090	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:62740090T>A	ENST00000371153.4	-	3	1064	c.686A>T	c.(685-687)cAg>cTg	p.Q229L	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	229	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCTCCCTCCTGGACCAGCTC	0.552																																					p.Q229L		Atlas-SNP	.											.	KANK4	135	.	0			c.A686T						.						45.0	42.0	43.0					1																	62740090		2203	4300	6503	SO:0001583	missense	163782	exon3			CCCTCCTGGACCA	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.686A>T	chr1.hg19:g.62740090T>A	ENSP00000360195:p.Gln229Leu	201.0	0.0		159.0	63.0	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	hg19	CCDS620.1	.	.	.	.	.	.	.	.	.	.	T	9.235	1.036841	0.19669	.	.	ENSG00000132854	ENST00000371153	T	0.49432	0.78	4.66	-9.32	0.00643	.	1.898770	0.02928	N	0.138859	T	0.33498	0.0865	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09618	-1.0666	10	0.30078	T	0.28	1.3173	3.7557	0.08585	0.1816:0.1312:0.1067:0.5804	.	229	Q5T7N3	KANK4_HUMAN	L	229	ENSP00000360195:Q229L	ENSP00000360195:Q229L	Q	-	2	0	KANK4	62512678	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-3.183000	0.00568	-2.054000	0.00900	-0.468000	0.05107	CAG	.	.		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
LRRC7	57554	hgsc.bcm.edu	37	1	70503923	70503923	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:70503923T>C	ENST00000035383.5	+	19	2332	c.2302T>C	c.(2302-2304)Tgg>Cgg	p.W768R	LRRC7_ENST00000310961.5_Missense_Mutation_p.W773R|LRRC7_ENST00000415775.2_Missense_Mutation_p.W52R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	768						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACTGACAACTGGACTGATGG	0.498																																					p.W768R		Atlas-SNP	.											.	LRRC7	400	.	0			c.T2302C						.						153.0	142.0	146.0					1																	70503923		2203	4300	6503	SO:0001583	missense	57554	exon19			GACAACTGGACTG		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2302T>C	chr1.hg19:g.70503923T>C	ENSP00000035383:p.Trp768Arg	160.0	0.0		144.0	55.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721745	0.30503	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.60548	0.18;0.3;1.41	5.58	4.44	0.53790	.	0.134555	0.53938	D	0.000047	T	0.57888	0.2084	L	0.47716	1.5	0.47862	D	0.999531	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.60717	-0.7208	10	0.46703	T	0.11	.	11.2231	0.48866	0.1373:0.0:0.0:0.8627	.	52;768;768	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	R	773;768;52;591	ENSP00000309245:W773R;ENSP00000035383:W768R;ENSP00000394867:W52R	ENSP00000035383:W768R	W	+	1	0	LRRC7	70276511	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	7.643000	0.83403	0.933000	0.37291	-0.691000	0.03719	TGG	.	.		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
RWDD3	25950	hgsc.bcm.edu	37	1	95712212	95712212	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:95712212A>T	ENST00000370202.4	+	3	764	c.688A>T	c.(688-690)Agg>Tgg	p.R230W	RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.5_ENST00000598739.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Intron	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	230					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGAACACAAAAGGTATAATTT	0.333																																					p.R230W		Atlas-SNP	.											.	RWDD3	24	.	0			c.A688T						.						101.0	93.0	96.0					1																	95712212		1836	4082	5918	SO:0001630	splice_region_variant	25950	exon3			CACAAAAGGTATA	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.689+1A>T	chr1.hg19:g.95712212A>T		275.0	0.0		228.0	96.0	NM_015485	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	hg19	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118277	0.77323	.	.	ENSG00000122481	ENST00000370202	T	0.34859	1.34	5.88	5.88	0.94601	.	0.100748	0.64402	D	0.000002	T	0.52370	0.1730	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.57619	-0.7780	10	0.72032	D	0.01	-14.0317	16.3015	0.82820	1.0:0.0:0.0:0.0	.	230	Q9Y3V2	RWDD3_HUMAN	W	230	ENSP00000359221:R230W	ENSP00000359221:R230W	R	+	1	2	RWDD3	95484800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.049000	0.76613	2.239000	0.73571	0.533000	0.62120	AGG	.	.		0.333	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	Missense_Mutation
MYBPHL	343263	hgsc.bcm.edu	37	1	109839480	109839480	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:109839480C>T	ENST00000357155.1	-	5	704	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	219	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAGCAAAGACACGGAAGGCA	0.572																																					p.V219I		Atlas-SNP	.											.	MYBPHL	28	.	0			c.G655A						.						148.0	115.0	127.0					1																	109839480		2203	4300	6503	SO:0001583	missense	343263	exon5			CAAAGACACGGAA	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.655G>A	chr1.hg19:g.109839480C>T	ENSP00000349678:p.Val219Ile	105.0	0.0		116.0	55.0	NM_001010985	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	hg19	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473577	0.63737	.	.	ENSG00000221986	ENST00000357155	T	0.70749	-0.51	5.01	3.08	0.35506	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60996	0.2312	L	0.57130	1.785	0.44067	D	0.996816	B;B	0.32040	0.353;0.102	B;P	0.45037	0.42;0.467	T	0.62959	-0.6743	9	0.39692	T	0.17	.	8.4167	0.32676	0.1538:0.7618:0.0:0.0844	.	196;219	B7ZME5;A2RUH7	.;MBPHL_HUMAN	I	219	ENSP00000349678:V219I	ENSP00000349678:V219I	V	-	1	0	MYBPHL	109641003	0.997000	0.39634	0.945000	0.38365	0.641000	0.38312	3.609000	0.54117	1.335000	0.45486	0.561000	0.74099	GTC	.	.		0.572	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
EPS8L3	79574	hgsc.bcm.edu	37	1	110294361	110294361	+	Missense_Mutation	SNP	G	G	T	rs549152937		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:110294361G>T	ENST00000361965.4	-	16	1584	c.1478C>A	c.(1477-1479)gCg>gAg	p.A493E	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.A494E|EPS8L3_ENST00000361852.4_Missense_Mutation_p.A463E	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	493	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTCCGTCCCGCCTCATTCTT	0.642																																					p.A494E		Atlas-SNP	.											EPS8L3,colon,carcinoma,0,1	EPS8L3	73	.	0			c.C1481A						.						58.0	58.0	58.0					1																	110294361		2203	4300	6503	SO:0001583	missense	79574	exon16			CGTCCCGCCTCAT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1478C>A	chr1.hg19:g.110294361G>T	ENSP00000355255:p.Ala493Glu	61.0	0.0		52.0	18.0	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	hg19	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	0.275	-0.990054	0.02162	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.28895	1.59;1.59;1.59	5.72	-3.51	0.04696	Src homology-3 domain (4);	0.754711	0.12846	N	0.434366	T	0.04363	0.0120	N	0.16903	0.455	0.09310	N	1	B;B;B	0.19706	0.038;0.001;0.002	B;B;B	0.17433	0.018;0.008;0.011	T	0.38607	-0.9653	10	0.27082	T	0.32	0.1163	4.5647	0.12177	0.2599:0.0:0.2154:0.5247	.	463;493;494	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	E	463;494;493	ENSP00000354551:A463E;ENSP00000358820:A494E;ENSP00000355255:A493E	ENSP00000354551:A463E	A	-	2	0	EPS8L3	110095884	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.374000	0.02566	-0.586000	0.05898	0.655000	0.94253	GCG	.	.		0.642	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
SYT6	148281	hgsc.bcm.edu	37	1	114646329	114646329	+	Silent	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:114646329C>T	ENST00000610222.1	-	4	1232	c.1086G>A	c.(1084-1086)ttG>ttA	p.L362L	SYT6_ENST00000393296.1_Silent_p.L362L|SYT6_ENST00000369547.1_Silent_p.L277L|SYT6_ENST00000609117.1_Silent_p.L277L|SYT6_ENST00000607941.1_Silent_p.L277L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	362					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCTCTCCCAAGTCCACGC	0.567																																					p.L277L		Atlas-SNP	.											.	SYT6	66	.	0			c.G831A						.						106.0	74.0	84.0					1																	114646329		2203	4300	6503	SO:0001819	synonymous_variant	148281	exon4			CTCTCCCAAGTCC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1086G>A	chr1.hg19:g.114646329C>T		62.0	0.0		66.0	27.0	NM_205848	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	hg19																																																																																				.	.		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
SPAG17	200162	hgsc.bcm.edu	37	1	118558796	118558796	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:118558796T>G	ENST00000336338.5	-	29	4144	c.4079A>C	c.(4078-4080)cAc>cCc	p.H1360P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1360						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGACTTTTGTGACTTTTTCC	0.383																																					p.H1360P		Atlas-SNP	.											.	SPAG17	263	.	0			c.A4079C						.						119.0	116.0	117.0					1																	118558796		2203	4300	6503	SO:0001583	missense	200162	exon29			CTTTTGTGACTTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4079A>C	chr1.hg19:g.118558796T>G	ENSP00000337804:p.His1360Pro	131.0	0.0		108.0	49.0	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	hg19	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724939	0.30593	.	.	ENSG00000155761	ENST00000336338	T	0.18810	2.19	4.72	1.97	0.26223	.	1.067670	0.07204	N	0.858010	T	0.07728	0.0194	L	0.51422	1.61	0.29640	N	0.844751	B	0.11235	0.004	B	0.08055	0.003	T	0.24404	-1.0161	10	0.34782	T	0.22	.	5.844	0.18652	0.1627:0.0:0.1683:0.6691	.	1360	Q6Q759	SPG17_HUMAN	P	1360	ENSP00000337804:H1360P	ENSP00000337804:H1360P	H	-	2	0	SPAG17	118360319	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	1.369000	0.34227	1.780000	0.52325	0.377000	0.23210	CAC	.	.		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144930752	144930752	+	Intron	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:144930752T>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000529945.1_Silent_p.L319L|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Silent_p.L319L|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCTCCAGGTAGGCTGGATT	0.493			T	PDGFRB	MPD																																p.L319L		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.A957T						.						107.0	113.0	111.0					1																	144930752		2203	4300	6503	SO:0001627	intron_variant	9659	exon1			TCCAGGTAGGCTG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6931A>T	chr1.hg19:g.144930752T>A		222.0	0.0		262.0	41.0	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	hg19	CCDS30824.1																																																																																			.	.		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
CTSS	1520	hgsc.bcm.edu	37	1	150722488	150722488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:150722488T>A	ENST00000368985.3	-	6	1047	c.787A>T	c.(787-789)Aga>Tga	p.R263*	CTSS_ENST00000448301.2_Nonsense_Mutation_p.R213*|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	263					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTACCACTTCTGTAGAGGAAG	0.398																																					p.R263X		Atlas-SNP	.											.	CTSS	31	.	0			c.A787T						.						55.0	50.0	51.0					1																	150722488		2203	4300	6503	SO:0001587	stop_gained	1520	exon6			CACTTCTGTAGAG	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.787A>T	chr1.hg19:g.150722488T>A	ENSP00000357981:p.Arg263*	81.0	0.0		84.0	34.0	NM_004079	B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Nonsense_Mutation	SNP	ENST00000368985.3	hg19	CCDS968.1	.	.	.	.	.	.	.	.	.	.	T	37	6.618515	0.97709	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	.	.	.	5.71	3.3	0.37823	.	0.711059	0.13758	N	0.364789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.3463	0.55122	0.0:0.0:0.4018:0.5982	.	.	.	.	X	213;263	.	ENSP00000357981:R263X	R	-	1	2	CTSS	148989112	0.984000	0.35163	0.502000	0.27614	0.963000	0.63663	1.993000	0.40747	0.386000	0.24997	0.482000	0.46254	AGA	.	.		0.398	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
PGLYRP3	114771	hgsc.bcm.edu	37	1	153276487	153276487	+	Splice_Site	SNP	T	T	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:153276487T>G	ENST00000290722.1	-	4	429		c.e4-2			NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACTGCTGCCTTAAAGAGGAG	0.512																																					.		Atlas-SNP	.											.	PGLYRP3	55	.	0			c.377-2A>C						.						44.0	46.0	46.0					1																	153276487		2203	4300	6503	SO:0001630	splice_region_variant	114771	exon5			GCTGCCTTAAAGA	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.377-2A>C	chr1.hg19:g.153276487T>G		45.0	0.0		92.0	35.0	NM_052891	A1A4U8|Q5SY65	Splice_Site	SNP	ENST00000290722.1	hg19	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537007	0.45176	.	.	ENSG00000159527	ENST00000290722	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.743	0.40429	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGLYRP3	151543111	0.967000	0.33354	0.686000	0.30086	0.757000	0.42996	3.141000	0.50593	1.878000	0.54408	0.528000	0.53228	.	.	.		0.512	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891	Intron
IL6R	3570	hgsc.bcm.edu	37	1	154407475	154407475	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:154407475A>T	ENST00000368485.3	+	5	1087	c.650A>T	c.(649-651)gAt>gTt	p.D217V	IL6R_ENST00000344086.4_Missense_Mutation_p.D217V	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	217	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GTGCAGCCTGATCCGCCTGCC	0.562																																					p.D217V		Atlas-SNP	.											.	IL6R	47	.	0			c.A650T						.						46.0	42.0	43.0					1																	154407475		2203	4300	6503	SO:0001583	missense	3570	exon5			AGCCTGATCCGCC	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.650A>T	chr1.hg19:g.154407475A>T	ENSP00000357470:p.Asp217Val	79.0	0.0		99.0	34.0	NM_000565	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	hg19	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.71|15.71	2.914137|2.914137	0.52546|0.52546	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485;ENST00000344086|ENST00000476006;ENST00000515190	T;T|.	0.26660|.	1.88;1.72|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.77078|0.77078	-0.2721|-0.2721	10|5	0.62326|.	D|.	0.03|.	-48.9129|-48.9129	11.3582|11.3582	0.49627|0.49627	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	217;217|.	P08887-2;P08887|.	.;IL6RA_HUMAN|.	V|F	217|140;20	ENSP00000357470:D217V;ENSP00000340589:D217V|.	ENSP00000340589:D217V|.	D|I	+|+	2|1	0|0	IL6R|IL6R	152674099|152674099	0.997000|0.997000	0.39634|0.39634	0.913000|0.913000	0.36048|0.36048	0.272000|0.272000	0.26649|0.26649	4.072000|4.072000	0.57563|0.57563	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	GAT|ATC	.	.		0.562	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	
NES	10763	hgsc.bcm.edu	37	1	156640210	156640210	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:156640210C>A	ENST00000368223.3	-	4	3902	c.3770G>T	c.(3769-3771)gGg>gTg	p.G1257V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1257	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTACTTTCCCCAGGGCTTC	0.647																																					p.G1257V		Atlas-SNP	.											.	NES	196	.	0			c.G3770T						.						83.0	94.0	90.0					1																	156640210		2203	4300	6503	SO:0001583	missense	10763	exon4			ACTTTCCCCAGGG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3770G>T	chr1.hg19:g.156640210C>A	ENSP00000357206:p.Gly1257Val	44.0	0.0		56.0	21.0	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	hg19	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117725	0.37339	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	4.3	-1.8	0.07907	.	0.546292	0.13841	N	0.359032	T	0.67173	0.2865	L	0.53249	1.67	0.20307	N	0.999912	D	0.54964	0.969	B	0.41135	0.348	T	0.63752	-0.6566	10	0.72032	D	0.01	.	8.8667	0.35291	0.0:0.2922:0.0:0.7078	.	1257	P48681	NEST_HUMAN	V	1257	ENSP00000357206:G1257V	ENSP00000357206:G1257V	G	-	2	0	NES	154906834	0.000000	0.05858	0.000000	0.03702	0.565000	0.35776	-3.521000	0.00443	-0.199000	0.10317	0.557000	0.71058	GGG	.	.		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
NTRK1	4914	hgsc.bcm.edu	37	1	156838010	156838010	+	Silent	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:156838010G>A	ENST00000524377.1	+	5	584	c.543G>A	c.(541-543)ggG>ggA	p.G181G	NTRK1_ENST00000358660.3_Silent_p.G181G|NTRK1_ENST00000368196.3_Silent_p.G181G|NTRK1_ENST00000392302.2_Silent_p.G151G	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	181	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ATGGGCAAGGGCCCCTGGCCC	0.652			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.G181G		Atlas-SNP	.		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	NTRK1	287	.	0			c.G543A	GRCh37	CD060633	NTRK1	D		.						49.0	46.0	47.0					1																	156838010		2203	4300	6503	SO:0001819	synonymous_variant	4914	exon5			GCAAGGGCCCCTG	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.543G>A	chr1.hg19:g.156838010G>A		40.0	0.0		60.0	11.0	NM_001012331	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	hg19	CCDS1161.1																																																																																			.	.		0.652	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
PBX1	5087	hgsc.bcm.edu	37	1	164768945	164768945	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:164768945G>A	ENST00000420696.2	+	4	708	c.520G>A	c.(520-522)Gag>Aag	p.E174K	PBX1_ENST00000540246.1_Missense_Mutation_p.E69K|PBX1_ENST00000540236.1_Missense_Mutation_p.E174K|PBX1_ENST00000560641.1_Missense_Mutation_p.E69K|PBX1_ENST00000367897.1_Missense_Mutation_p.E174K|PBX1_ENST00000559240.1_Missense_Mutation_p.E174K|PBX1_ENST00000401534.1_Missense_Mutation_p.E174K	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	174					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCCTGCAACGAGTTCACCAC	0.547			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																p.E174K		Atlas-SNP	.		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	PBX1_ENST00000420696,NS,carcinoma,0,1	PBX1	60	.	0			c.G520A						.						82.0	77.0	79.0					1																	164768945		2203	4300	6503	SO:0001583	missense	5087	exon4			TGCAACGAGTTCA	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.520G>A	chr1.hg19:g.164768945G>A	ENSP00000405890:p.Glu174Lys	169.0	0.0		174.0	44.0	NM_001204963	B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	hg19	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831450	0.97003	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.76	5.76	0.90799	PBX (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.81802	2.56	0.80722	D	1	P;P;P;P;P	0.46784	0.884;0.884;0.859;0.884;0.884	P;P;P;P;P	0.50970	0.603;0.655;0.468;0.655;0.603	T	0.50516	-0.8819	10	0.54805	T	0.06	-18.188	19.571	0.95419	0.0:0.0:1.0:0.0	.	69;174;174;174;174	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	K	174;174;174;174;69	ENSP00000405890:E174K;ENSP00000356872:E174K;ENSP00000439943:E174K;ENSP00000384856:E174K;ENSP00000440869:E69K	ENSP00000356872:E174K	E	+	1	0	PBX1	163035569	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.338000	0.96553	2.713000	0.92767	0.655000	0.94253	GAG	.	.		0.547	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585	
PRRC2C	23215	hgsc.bcm.edu	37	1	171556150	171556150	+	Silent	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:171556150A>G	ENST00000338920.4	+	31	7989	c.7752A>G	c.(7750-7752)gtA>gtG	p.V2584V	PRRC2C_ENST00000367742.3_Silent_p.V2586V|PRRC2C_ENST00000392078.3_Silent_p.V2586V|PRRC2C_ENST00000426496.2_Silent_p.V2519V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2584	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGTTACAGTACCTTTACCAG	0.388																																					p.V2584V		Atlas-SNP	.											.	.	.	.	0			c.A7752G						.						78.0	68.0	71.0					1																	171556150		2203	4300	6503	SO:0001819	synonymous_variant	23215	exon31			TACAGTACCTTTA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7752A>G	chr1.hg19:g.171556150A>G		92.0	0.0		98.0	4.0	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250613	0.22880	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.24	-1.75	0.08031	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35126	-0.9801	4	.	.	.	.	6.7391	0.23424	0.4998:0.3663:0.1339:0.0	.	.	.	.	C	1067	.	.	Y	+	2	0	PRRC2C	169822774	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	1.385000	0.34408	-0.225000	0.09913	0.377000	0.23210	TAC	.	.		0.388	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
METTL13	51603	hgsc.bcm.edu	37	1	171761248	171761248	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:171761248T>A	ENST00000361735.3	+	6	1832	c.1566T>A	c.(1564-1566)gcT>gcA	p.A522A	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.A436A|METTL13_ENST00000458517.1_Silent_p.A521A|METTL13_ENST00000367737.5_Silent_p.A366A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	522							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCATTGATGCTGTGGAGATCG	0.542																																					p.A522A		Atlas-SNP	.											.	METTL13	67	.	0			c.T1566A						.						152.0	134.0	140.0					1																	171761248		2203	4300	6503	SO:0001819	synonymous_variant	51603	exon6			TGATGCTGTGGAG	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1566T>A	chr1.hg19:g.171761248T>A		102.0	0.0		118.0	24.0	NM_015935	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	hg19	CCDS1299.1																																																																																			.	.		0.542	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955	
KIAA1614	57710	hgsc.bcm.edu	37	1	180885579	180885579	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:180885579A>G	ENST00000367588.4	+	2	395	c.340A>G	c.(340-342)Aag>Gag	p.K114E		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	114										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTCATCCCCCAAGAAACCCCA	0.577																																					p.K114E		Atlas-SNP	.											.	KIAA1614	75	.	0			c.A340G						.						83.0	90.0	88.0					1																	180885579		2022	4173	6195	SO:0001583	missense	57710	exon2			TCCCCCAAGAAAC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.340A>G	chr1.hg19:g.180885579A>G	ENSP00000356560:p.Lys114Glu	103.0	0.0		168.0	51.0	NM_020950	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500804	0.64298	.	.	ENSG00000135835	ENST00000367588	T	0.05319	3.46	5.08	3.94	0.45596	.	0.393782	0.18631	N	0.135581	T	0.07279	0.0184	N	0.24115	0.695	0.23758	N	0.99693	D	0.55605	0.972	P	0.49752	0.621	T	0.33369	-0.9871	9	0.31617	T	0.26	-11.7207	10.0316	0.42103	0.8305:0.1695:0.0:0.0	.	114	Q5VZ46	K1614_HUMAN	E	114	ENSP00000356560:K114E	ENSP00000356560:K114E	K	+	1	0	KIAA1614	179152202	0.986000	0.35501	0.002000	0.10522	0.212000	0.24457	2.892000	0.48625	0.934000	0.37316	0.533000	0.62120	AAG	.	.		0.577	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
ZNF648	127665	hgsc.bcm.edu	37	1	182025741	182025741	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:182025741T>A	ENST00000339948.3	-	2	1612	c.1405A>T	c.(1405-1407)Atc>Ttc	p.I469F		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	469					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCAGTGTGGATGCGCTGGTGG	0.672																																					p.I469F	NSCLC(71;908 1374 5429 20458 35642)	Atlas-SNP	.											.	ZNF648	111	.	0			c.A1405T						.						38.0	35.0	36.0					1																	182025741		2202	4300	6502	SO:0001583	missense	127665	exon2			TGTGGATGCGCTG	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1405A>T	chr1.hg19:g.182025741T>A	ENSP00000344129:p.Ile469Phe	89.0	0.0		125.0	35.0	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	hg19	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645448	0.67358	.	.	ENSG00000179930	ENST00000339948	T	0.18338	2.22	2.77	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	M	0.79011	2.435	0.43494	D	0.995732	P	0.38745	0.645	B	0.39379	0.298	T	0.09335	-1.0679	9	0.87932	D	0	.	9.3398	0.38074	0.0:0.0:0.0:1.0	.	469	Q5T619	ZN648_HUMAN	F	469	ENSP00000344129:I469F	ENSP00000344129:I469F	I	-	1	0	ZNF648	180292364	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.336000	0.19823	1.501000	0.48654	0.533000	0.62120	ATC	.	.		0.672	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
LAMC2	3918	hgsc.bcm.edu	37	1	183209229	183209229	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:183209229A>T	ENST00000264144.4	+	21	3189	c.3124A>T	c.(3124-3126)Atg>Ttg	p.M1042L	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.M1042L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1042	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCCTTGGCCATGGAAAAGGG	0.517																																					p.M1042L		Atlas-SNP	.											.	LAMC2	113	.	0			c.A3124T						.						131.0	129.0	129.0					1																	183209229		2203	4300	6503	SO:0001583	missense	3918	exon21			TTGGCCATGGAAA	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3124A>T	chr1.hg19:g.183209229A>T	ENSP00000264144:p.Met1042Leu	116.0	0.0		157.0	45.0	NM_005562	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	hg19	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	5.460	0.269973	0.10349	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.76316	2.96;-1.01	5.69	2.21	0.28008	.	0.336181	0.28933	N	0.013671	T	0.56046	0.1959	N	0.12887	0.27	0.27131	N	0.961906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33574	-0.9863	10	0.02654	T	1	.	14.4065	0.67086	0.2705:0.7295:0.0:0.0	.	1042;1042;1042	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	L	1042	ENSP00000432063:M1042L;ENSP00000264144:M1042L	ENSP00000264144:M1042L	M	+	1	0	LAMC2	181475852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.825000	0.39081	0.446000	0.26666	0.528000	0.53228	ATG	.	.		0.517	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
CFHR5	81494	hgsc.bcm.edu	37	1	196965322	196965322	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:196965322A>T	ENST00000256785.4	+	6	1070	c.961A>T	c.(961-963)Atg>Ttg	p.M321L	CFHR5_ENST00000367414.5_Missense_Mutation_p.M345L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	321	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAGCTTCCTATGTGTGTTGG	0.308																																					p.M321L		Atlas-SNP	.											.	CFHR5	150	.	0			c.A961T						.						115.0	117.0	116.0					1																	196965322		2203	4300	6503	SO:0001583	missense	81494	exon6			CTTCCTATGTGTG	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.961A>T	chr1.hg19:g.196965322A>T	ENSP00000256785:p.Met321Leu	86.0	0.0		104.0	35.0	NM_030787	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	hg19	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	5.542	0.284920	0.10513	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.63096	-0.02;-0.02	3.13	-6.25	0.02039	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32704	0.0838	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.28530	T	0.3	.	9.1476	0.36942	0.1722:0.6646:0.1632:0.0	.	321	Q9BXR6	FHR5_HUMAN	L	345;321	ENSP00000356384:M345L;ENSP00000256785:M321L	ENSP00000256785:M321L	M	+	1	0	CFHR5	195231945	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.500000	0.00967	-2.539000	0.00486	-0.788000	0.03338	ATG	.	.		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
PLEKHA6	22874	hgsc.bcm.edu	37	1	204226522	204226522	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:204226522G>A	ENST00000272203.3	-	9	1799	c.1483C>T	c.(1483-1485)Cct>Tct	p.P495S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P515S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	495										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TAGGCAGCAGGGTCAGCATAG	0.622																																					p.P495S		Atlas-SNP	.											.	PLEKHA6	115	.	0			c.C1483T						.																																			SO:0001583	missense	22874	exon9			CAGCAGGGTCAGC	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1483C>T	chr1.hg19:g.204226522G>A	ENSP00000272203:p.Pro495Ser	141.0	0.0		118.0	42.0	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	hg19	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073708	0.76415	.	.	ENSG00000143850	ENST00000272203;ENST00000414478;ENST00000450705;ENST00000543129;ENST00000454206;ENST00000367191;ENST00000430806;ENST00000538441	T;T	0.10960	2.82;3.28	5.4	4.49	0.54785	.	0.899571	0.09859	N	0.746463	T	0.26412	0.0645	M	0.77313	2.365	0.58432	D	0.99999	P;B;P;D;P;P;P;B	0.55172	0.562;0.421;0.952;0.97;0.749;0.481;0.713;0.191	B;B;P;P;B;B;P;B	0.49829	0.275;0.254;0.623;0.558;0.242;0.22;0.589;0.09	T	0.05178	-1.0901	10	0.48119	T	0.1	-12.9424	15.5838	0.76465	0.0:0.0:0.8612:0.1388	.	29;29;29;29;515;29;29;495	A5XEJ5;A5XEJ7;A5XEJ6;A5XEJ8;Q5VTI5;A5XEJ3;A5XEJ2;Q9Y2H5	.;.;.;.;.;.;.;PKHA6_HUMAN	S	495;515;29;29;29;29;29;29	ENSP00000272203:P495S;ENSP00000402046:P515S	ENSP00000272203:P495S	P	-	1	0	PLEKHA6	202493145	1.000000	0.71417	0.956000	0.39512	0.942000	0.58702	6.895000	0.75660	1.402000	0.46780	0.655000	0.94253	CCT	.	.		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
AVPR1B	553	hgsc.bcm.edu	37	1	206225342	206225342	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:206225342A>T	ENST00000367126.4	+	1	1367	c.902A>T	c.(901-903)cAg>cTg	p.Q301L	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	301					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCAGTGTCCAGATGTGGTCC	0.547																																					p.Q301L		Atlas-SNP	.											.	AVPR1B	47	.	0			c.A902T						.						87.0	80.0	82.0					1																	206225342		2203	4300	6503	SO:0001583	missense	553	exon1			GTGTCCAGATGTG	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.902A>T	chr1.hg19:g.206225342A>T	ENSP00000356094:p.Gln301Leu	66.0	0.0		91.0	19.0	NM_000707	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	hg19	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062038	0.76187	.	.	ENSG00000198049	ENST00000367126	T	0.34667	1.35	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.081511	0.52532	D	0.000069	T	0.59810	0.2221	M	0.71871	2.18	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.64037	-0.6501	10	0.72032	D	0.01	-24.8691	14.9914	0.71390	1.0:0.0:0.0:0.0	.	301	P47901	V1BR_HUMAN	L	301	ENSP00000356094:Q301L	ENSP00000356094:Q301L	Q	+	2	0	AVPR1B	204391965	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.339000	0.96797	2.023000	0.59567	0.379000	0.24179	CAG	.	.		0.547	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707	
OBSCN	84033	hgsc.bcm.edu	37	1	228482634	228482634	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:228482634A>T	ENST00000422127.1	+	43	11593	c.11549A>T	c.(11548-11550)cAg>cTg	p.Q3850L	OBSCN_ENST00000570156.2_Missense_Mutation_p.Q4279L|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q2697L|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q3850L|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q969L|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q969L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3850	Ig-like 39.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCTGAGGCAGGATGGGACC	0.632																																					p.Q4279L		Atlas-SNP	.											.	OBSCN	2142	.	0			c.A12836T						.						136.0	139.0	138.0					1																	228482634		2109	4205	6314	SO:0001583	missense	84033	exon48			TGAGGCAGGATGG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11549A>T	chr1.hg19:g.228482634A>T	ENSP00000409493:p.Gln3850Leu	262.0	0.0		304.0	93.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882841	0.72410	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.1	3.96	0.45880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074400	0.56097	D	0.000040	T	0.69682	0.3138	L	0.46670	1.46	0.44155	D	0.996956	P;P	0.52577	0.931;0.954	P;P	0.56648	0.803;0.598	T	0.65685	-0.6108	10	0.28530	T	0.3	.	12.2184	0.54420	0.8575:0.1425:0.0:0.0	.	3850;3850	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	3850;3850;969;969;2697	ENSP00000284548:Q3850L;ENSP00000409493:Q3850L;ENSP00000355668:Q969L;ENSP00000355670:Q969L;ENSP00000352613:Q2697L	ENSP00000284548:Q3850L	Q	+	2	0	OBSCN	226549257	0.990000	0.36364	0.988000	0.46212	0.285000	0.27093	2.452000	0.44961	0.946000	0.37632	0.383000	0.25322	CAG	.	.		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
KIF26B	55083	hgsc.bcm.edu	37	1	245851010	245851010	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:245851010T>A	ENST00000407071.2	+	12	5165	c.4725T>A	c.(4723-4725)gcT>gcA	p.A1575A	KIF26B_ENST00000366518.4_Silent_p.A1194A	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1575					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCTCCAAGGCTACCCTGGAGG	0.667																																					p.A1575A		Atlas-SNP	.											.	KIF26B	343	.	0			c.T4725A						.						11.0	14.0	13.0					1																	245851010		1940	4118	6058	SO:0001819	synonymous_variant	55083	exon12			CAAGGCTACCCTG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4725T>A	chr1.hg19:g.245851010T>A		182.0	0.0		218.0	62.0	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	hg19	CCDS44342.1																																																																																			.	.		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR13G1	441933	hgsc.bcm.edu	37	1	247835424	247835424	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:247835424T>A	ENST00000359688.2	-	1	941	c.920A>T	c.(919-921)cAc>cTc	p.H307L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAACTACTAGTGTTTCAGAAA	0.413																																					p.H307L		Atlas-SNP	.											.	OR13G1	78	.	0			c.A920T						.						88.0	97.0	94.0					1																	247835424		2203	4300	6503	SO:0001583	missense	441933	exon1			TACTAGTGTTTCA	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.920A>T	chr1.hg19:g.247835424T>A	ENSP00000352717:p.His307Leu	65.0	0.0		110.0	24.0	NM_001005487	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	hg19	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959548	0.34565	.	.	ENSG00000197437	ENST00000359688	T	0.09255	3.0	3.84	-2.56	0.06268	.	1.814060	0.03308	N	0.190104	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.30511	0.282	B	0.21546	0.035	T	0.30327	-0.9982	10	0.38643	T	0.18	.	4.2864	0.10857	0.1837:0.4442:0.0:0.372	.	307	Q8NGZ3	O13G1_HUMAN	L	307	ENSP00000352717:H307L	ENSP00000352717:H307L	H	-	2	0	OR13G1	245902047	0.000000	0.05858	0.007000	0.13788	0.228000	0.25075	-2.741000	0.00798	-0.395000	0.07715	0.533000	0.62120	CAC	.	.		0.413	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
OR2T11	127077	hgsc.bcm.edu	37	1	248789949	248789949	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:248789949T>A	ENST00000330803.2	-	1	542	c.481A>T	c.(481-483)Atg>Ttg	p.M161L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGACATTCATGGTGATGGGA	0.517																																					p.M161L		Atlas-SNP	.											.	OR2T11	64	.	0			c.A481T						.						53.0	60.0	58.0					1																	248789949		2049	4233	6282	SO:0001583	missense	127077	exon1			CATTCATGGTGAT	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.481A>T	chr1.hg19:g.248789949T>A	ENSP00000328934:p.Met161Leu	63.0	0.0		150.0	59.0	NM_001001964	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	hg19	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	6.404	0.442747	0.12164	.	.	ENSG00000183130	ENST00000330803	T	0.00024	8.98	4.38	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.00109	0.0003	N	0.04820	-0.15	0.09310	N	1	D	0.56521	0.976	P	0.57283	0.817	T	0.57791	-0.7750	10	0.07644	T	0.81	.	8.5357	0.33362	0.2719:0.0:0.0:0.7281	.	161	Q8NH01	O2T11_HUMAN	L	161	ENSP00000328934:M161L	ENSP00000328934:M161L	M	-	1	0	OR2T11	246856572	0.000000	0.05858	1.000000	0.80357	0.416000	0.31233	-0.368000	0.07543	1.820000	0.53075	0.533000	0.62120	ATG	.	.		0.517	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
ASAP2	8853	hgsc.bcm.edu	37	2	9520899	9520899	+	Missense_Mutation	SNP	A	A	T	rs542556113		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:9520899A>T	ENST00000281419.3	+	20	2318	c.1978A>T	c.(1978-1980)Att>Ttt	p.I660F	ASAP2_ENST00000315273.4_Missense_Mutation_p.I660F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	660					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGCTGGACATTGCCAAGCG	0.572																																					p.I660F		Atlas-SNP	.											.	ASAP2	91	.	0			c.A1978T						.						97.0	103.0	101.0					2																	9520899		2203	4300	6503	SO:0001583	missense	8853	exon20			CTGGACATTGCCA	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1978A>T	chr2.hg19:g.9520899A>T	ENSP00000281419:p.Ile660Phe	40.0	0.0		42.0	24.0	NM_001135191	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	A	33	5.220086	0.95139	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.60171	0.22;0.21	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.81914	0.887;0.995	T	0.77595	-0.2529	10	0.62326	D	0.03	.	15.6129	0.76740	1.0:0.0:0.0:0.0	.	660;660	O43150-2;O43150	.;ASAP2_HUMAN	F	660	ENSP00000281419:I660F;ENSP00000316404:I660F	ENSP00000281419:I660F	I	+	1	0	ASAP2	9438350	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.180000	0.94867	2.089000	0.63090	0.528000	0.53228	ATT	.	.		0.572	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
C2orf16	84226	hgsc.bcm.edu	37	2	27804758	27804758	+	Missense_Mutation	SNP	A	A	C	rs200680705	byFrequency	TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:27804758A>C	ENST00000408964.2	+	1	5370	c.5319A>C	c.(5317-5319)agA>agC	p.R1773S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1773	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGAAGACATCGCAGTC	0.527													a|||	15	0.00299521	0.0023	0.0	5008	,	,		22319	0.001		0.001	False		,,,				2504	0.0102				p.R1773S		Atlas-SNP	.											C2orf16_ENST00000408964,NS,carcinoma,0,2	C2orf16	357	.	0			c.A5319C						.						201.0	204.0	203.0					2																	27804758		1930	4131	6061	SO:0001583	missense	84226	exon1			GAGAAGACATCGC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5319A>C	chr2.hg19:g.27804758A>C	ENSP00000386190:p.Arg1773Ser	103.0	1.0		72.0	15.0	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	a	0.251	-1.006368	0.02112	.	.	ENSG00000221843	ENST00000408964	T	0.04917	3.53	0.158	-0.317	0.12736	.	.	.	.	.	T	0.01627	0.0052	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	8	0.07175	T	0.84	.	.	.	.	.	1773	Q68DN1	CB016_HUMAN	S	1773	ENSP00000386190:R1773S	ENSP00000386190:R1773S	R	+	3	2	C2orf16	27658262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.976000	0.00008	-1.184000	0.02720	-1.203000	0.01651	AGA	.	.		0.527	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	hgsc.bcm.edu	37	2	27804762	27804762	+	Missense_Mutation	SNP	C	C	T	rs572973586	byFrequency	TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:27804762C>T	ENST00000408964.2	+	1	5374	c.5323C>T	c.(5323-5325)Cgc>Tgc	p.R1775C	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1775	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGACATCGCAGTCCCTC	0.527													C|||	7	0.00139776	0.0008	0.0	5008	,	,		21123	0.001		0.0	False		,,,				2504	0.0051				p.R1775C		Atlas-SNP	.											C2orf16_ENST00000408964,NS,carcinoma,0,4	C2orf16	357	.	0			c.C5323T						.						199.0	203.0	201.0					2																	27804762		1937	4131	6068	SO:0001583	missense	84226	exon1			AGACATCGCAGTC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5323C>T	chr2.hg19:g.27804762C>T	ENSP00000386190:p.Arg1775Cys	102.0	0.0		77.0	19.0	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.189997	0.21954	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	3.4	-1.73	0.08081	.	.	.	.	.	T	0.05181	0.0138	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41980	-0.9478	9	0.45353	T	0.12	.	1.5182	0.02510	0.2773:0.4095:0.1356:0.1777	.	1775	Q68DN1	CB016_HUMAN	C	1775	ENSP00000386190:R1775C	ENSP00000386190:R1775C	R	+	1	0	C2orf16	27658266	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.612000	0.02061	-0.413000	0.07507	-0.567000	0.04161	CGC	.	.		0.527	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
TTC27	55622	hgsc.bcm.edu	37	2	33007745	33007745	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:33007745A>T	ENST00000317907.4	+	15	2063	c.1832A>T	c.(1831-1833)aAa>aTa	p.K611I		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	611										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAAAACAAAAGTAAGTACAT	0.303																																					p.K611I		Atlas-SNP	.											.	TTC27	71	.	0			c.A1832T						.						60.0	60.0	60.0					2																	33007745		2201	4292	6493	SO:0001630	splice_region_variant	55622	exon15			AACAAAAGTAAGT	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1832+1A>T	chr2.hg19:g.33007745A>T		398.0	0.0		289.0	119.0	NM_017735	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	hg19	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	a	29.7	5.026563	0.93518	.	.	ENSG00000018699	ENST00000317907	T	0.59638	0.25	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.69083	-0.5239	10	0.22109	T	0.4	-18.5157	16.336	0.83060	1.0:0.0:0.0:0.0	.	611	Q6P3X3	TTC27_HUMAN	I	611	ENSP00000313953:K611I	ENSP00000313953:K611I	K	+	2	0	TTC27	32861249	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.269000	0.95684	2.252000	0.74401	0.529000	0.55759	AAA	.	.		0.303	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	Missense_Mutation
HEATR5B	54497	hgsc.bcm.edu	37	2	37255261	37255261	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:37255261C>G	ENST00000233099.5	-	24	3753	c.3658G>C	c.(3658-3660)Gat>Cat	p.D1220H	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1220H	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1220						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCATCTCATCTTTCTTTTCA	0.398																																					p.D1220H		Atlas-SNP	.											.	HEATR5B	185	.	0			c.G3658C						.						92.0	97.0	96.0					2																	37255261		2203	4300	6503	SO:0001583	missense	54497	exon24			TCTCATCTTTCTT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3658G>C	chr2.hg19:g.37255261C>G	ENSP00000233099:p.Asp1220His	291.0	0.0		245.0	94.0	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186055	0.57909	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.54479	0.57;0.57	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.66939	2.045	0.80722	D	1	P	0.35959	0.53	B	0.35813	0.211	T	0.58358	-0.7650	10	0.40728	T	0.16	-18.5623	17.7328	0.88383	0.0:1.0:0.0:0.0	.	1220	Q9P2D3	HTR5B_HUMAN	H	1220	ENSP00000233099:D1220H;ENSP00000346531:D1220H	ENSP00000233099:D1220H	D	-	1	0	HEATR5B	37108765	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.686000	0.84128	2.259000	0.74868	0.467000	0.42956	GAT	.	.		0.398	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
SULT6B1	391365	hgsc.bcm.edu	37	2	37415605	37415605	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:37415605A>T	ENST00000535679.1	-	1	178	c.179T>A	c.(178-180)cTa>cAa	p.L60Q	SULT6B1_ENST00000379149.2_Missense_Mutation_p.L60Q|SULT6B1_ENST00000407963.1_Missense_Mutation_p.L22Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.L22Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	60						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATAAGATGCTAGCACGATGTC	0.468																																					p.L22Q		Atlas-SNP	.											.	SULT6B1	46	.	0			c.T65A						.						233.0	197.0	209.0					2																	37415605		2203	4300	6503	SO:0001583	missense	391365	exon1			GATGCTAGCACGA	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.179T>A	chr2.hg19:g.37415605A>T	ENSP00000444081:p.Leu60Gln	141.0	0.0		92.0	41.0	NM_001032377	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	hg19		.	.	.	.	.	.	.	.	.	.	A	18.00	3.524388	0.64747	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	D;T;D;D	0.85861	-2.04;2.51;-2.04;-2.04	4.39	4.39	0.52855	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000005	D	0.91700	0.7376	M	0.83384	2.64	0.53688	D	0.999972	D	0.76494	0.999	D	0.74674	0.984	D	0.92596	0.6087	10	0.87932	D	0	.	11.6066	0.51035	1.0:0.0:0.0:0.0	.	60	Q6IMI4	ST6B1_HUMAN	Q	60;60;22;22	ENSP00000444081:L60Q;ENSP00000368444:L60Q;ENSP00000260637:L22Q;ENSP00000384950:L22Q	ENSP00000260637:L22Q	L	-	2	0	SULT6B1	37269109	0.982000	0.34865	0.884000	0.34674	0.709000	0.40893	5.664000	0.68045	1.846000	0.53633	0.533000	0.62120	CTA	.	.		0.468	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377	
CD207	50489	hgsc.bcm.edu	37	2	71058314	71058314	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:71058314T>A	ENST00000410009.3	-	6	899	c.854A>T	c.(853-855)gAg>gTg	p.E285V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	285	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						ATTGTTGGGCTCACCTGGAAT	0.418																																					p.E285V		Atlas-SNP	.											.	CD207	47	.	0			c.A854T						.						126.0	115.0	119.0					2																	71058314		1905	4129	6034	SO:0001583	missense	50489	exon6			TTGGGCTCACCTG	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.854A>T	chr2.hg19:g.71058314T>A	ENSP00000386378:p.Glu285Val	99.0	0.0		92.0	27.0	NM_015717		Missense_Mutation	SNP	ENST00000410009.3	hg19		.	.	.	.	.	.	.	.	.	.	T	15.39	2.818627	0.50633	.	.	ENSG00000116031	ENST00000410009	T	0.21543	2.0	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.52532	D	0.000062	T	0.58850	0.2151	H	0.98199	4.17	0.39040	D	0.960115	D	0.89917	1.0	D	0.87578	0.998	T	0.72151	-0.4377	10	0.87932	D	0	.	9.3545	0.38157	0.0:0.0:0.0:1.0	.	285	Q9UJ71	CLC4K_HUMAN	V	285	ENSP00000386378:E285V	ENSP00000386378:E285V	E	-	2	0	CD207	70911822	0.998000	0.40836	1.000000	0.80357	0.547000	0.35210	3.626000	0.54245	1.978000	0.57642	0.523000	0.50628	GAG	.	.		0.418	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
GGCX	2677	hgsc.bcm.edu	37	2	85780558	85780558	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:85780558T>A	ENST00000233838.4	-	8	1032	c.952A>T	c.(952-954)Aag>Tag	p.K318*	GGCX_ENST00000430215.3_Nonsense_Mutation_p.K261*|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	318					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GACACCAGCTTCCGAGGCCAC	0.552																																					p.K318X		Atlas-SNP	.											.	GGCX	44	.	0			c.A952T						.						65.0	74.0	71.0					2																	85780558		2203	4300	6503	SO:0001587	stop_gained	2677	exon8			CCAGCTTCCGAGG		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.952A>T	chr2.hg19:g.85780558T>A	ENSP00000233838:p.Lys318*	288.0	0.0		219.0	86.0	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Nonsense_Mutation	SNP	ENST00000233838.4	hg19	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947706	0.92593	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.64	4.41	0.53225	.	0.240008	0.46758	D	0.000276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9945	10.5883	0.45296	0.0:0.0:0.1614:0.8386	.	.	.	.	X	318;261	.	ENSP00000233838:K318X	K	-	1	0	GGCX	85634069	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.597000	0.36729	2.147000	0.66899	0.533000	0.62120	AAG	.	.		0.552	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
DPP10	57628	hgsc.bcm.edu	37	2	116257157	116257157	+	Silent	SNP	T	T	C	rs139947044		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:116257157T>C	ENST00000410059.1	+	4	823	c.343T>C	c.(343-345)Tta>Cta	p.L115L	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Silent_p.L65L|DPP10_ENST00000393147.2_Silent_p.L119L|DPP10_ENST00000310323.8_Silent_p.L108L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	115						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCTACCACATTATTATTGGA	0.299																																					p.L119L		Atlas-SNP	.											.	DPP10	415	.	0			c.T355C						.	T	,,,,	0,4406		0,0,2203	113.0	110.0	111.0		322,355,193,331,343	4.2	1.0	2	dbSNP_134	111	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	,,,,	108/790,119/801,65/747,111/793,115/797	116257157	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57628	exon4			ACCACATTATTAT	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.343T>C	chr2.hg19:g.116257157T>C		297.0	0.0		261.0	112.0	NM_001178034	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	hg19	CCDS46400.1																																																																																			.	T|1.000;C|0.000		0.299	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
KYNU	8942	hgsc.bcm.edu	37	2	143718311	143718311	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:143718311C>T	ENST00000264170.4	+	8	959	c.701C>T	c.(700-702)cCt>cTt	p.P234L	KYNU_ENST00000375773.2_Missense_Mutation_p.P234L|KYNU_ENST00000409512.1_Missense_Mutation_p.P234L	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)		TTTAATATTCCTGCCATCACA	0.418																																					p.P234L		Atlas-SNP	.											.	KYNU	110	.	0			c.C701T						.						135.0	131.0	132.0					2																	143718311		2203	4300	6503	SO:0001583	missense	8942	exon9			ATATTCCTGCCAT	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.701C>T	chr2.hg19:g.143718311C>T	ENSP00000264170:p.Pro234Leu	91.0	0.0		98.0	44.0	NM_001199241		Missense_Mutation	SNP	ENST00000264170.4	hg19	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931862	0.52866	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.55413	0.52;0.52;0.52	5.35	4.46	0.54185	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.124843	0.56097	D	0.000035	T	0.54854	0.1884	M	0.78916	2.43	0.80722	D	1	B;B	0.29835	0.258;0.069	B;B	0.31390	0.129;0.03	T	0.56288	-0.8004	10	0.40728	T	0.16	.	13.2071	0.59803	0.2896:0.7104:0.0:0.0	.	234;234	Q16719;Q9BVW3	KYNU_HUMAN;.	L	234	ENSP00000264170:P234L;ENSP00000364928:P234L;ENSP00000386731:P234L	ENSP00000264170:P234L	P	+	2	0	KYNU	143434781	0.157000	0.22836	0.991000	0.47740	0.826000	0.46750	1.644000	0.37228	1.369000	0.46134	0.644000	0.83932	CCT	.	.		0.418	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
PLA2R1	22925	hgsc.bcm.edu	37	2	160884730	160884730	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:160884730A>T	ENST00000283243.7	-	6	1304	c.1098T>A	c.(1096-1098)gtT>gtA	p.V366V	PLA2R1_ENST00000392771.1_Splice_Site_p.V366V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	366					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACGCTTACCAACTATTTCAT	0.318																																					p.V366V		Atlas-SNP	.											.	PLA2R1	153	.	0			c.T1098A						.						99.0	109.0	105.0					2																	160884730		2203	4300	6503	SO:0001630	splice_region_variant	22925	exon6			CTTACCAACTATT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1099+1T>A	chr2.hg19:g.160884730A>T		377.0	0.0		303.0	135.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	hg19	CCDS33309.1																																																																																			.	.		0.318	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		Silent
SLC38A11	151258	hgsc.bcm.edu	37	2	165793884	165793884	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:165793884C>T	ENST00000409149.3	-	6	716	c.425G>A	c.(424-426)aGg>aAg	p.R142K	SLC38A11_ENST00000303735.4_Missense_Mutation_p.R120K|SLC38A11_ENST00000409058.1_Missense_Mutation_p.R173K|SLC38A11_ENST00000409662.1_Missense_Mutation_p.R142K|SLC38A11_ENST00000493887.1_5'UTR	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	142					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGAAATTGCCCTTGCCATTAC	0.363																																					p.R142K		Atlas-SNP	.											.	SLC38A11	41	.	0			c.G425A						.						129.0	129.0	129.0					2																	165793884		2203	4300	6503	SO:0001583	missense	151258	exon6			ATTGCCCTTGCCA		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.425G>A	chr2.hg19:g.165793884C>T	ENSP00000386272:p.Arg142Lys	106.0	0.0		91.0	13.0	NM_001199148	B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	hg19	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158833	0.38119	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T	0.02197	4.4;4.4;4.4;4.4	4.92	4.04	0.47022	.	0.043794	0.85682	D	0.000000	T	0.06826	0.0174	M	0.71920	2.185	0.46416	D	0.999039	P;P	0.52061	0.95;0.938	P;P	0.58266	0.836;0.664	T	0.32214	-0.9915	10	0.02654	T	1	-3.0994	12.583	0.56401	0.0:0.9171:0.0:0.0829	.	142;120	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	K	120;142;173;142;17	ENSP00000306178:R120K;ENSP00000386272:R142K;ENSP00000387345:R173K;ENSP00000386774:R142K	ENSP00000306178:R120K	R	-	2	0	SLC38A11	165502130	0.983000	0.35010	0.266000	0.24541	0.006000	0.05464	4.096000	0.57734	1.213000	0.43380	0.555000	0.69702	AGG	.	.		0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	
TTC21B	79809	hgsc.bcm.edu	37	2	166781090	166781090	+	Silent	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:166781090G>C	ENST00000243344.7	-	12	1622	c.1485C>G	c.(1483-1485)gtC>gtG	p.V495V		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	495					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTATTAGGAAGACTGTTTGCA	0.383																																					p.V495V		Atlas-SNP	.											.	TTC21B	130	.	0			c.C1485G						.						47.0	49.0	48.0					2																	166781090		2203	4300	6503	SO:0001819	synonymous_variant	79809	exon12			TAGGAAGACTGTT	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1485C>G	chr2.hg19:g.166781090G>C		447.0	0.0		321.0	14.0	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	hg19	CCDS33315.1																																																																																			.	.		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
LRP2	4036	hgsc.bcm.edu	37	2	170062841	170062841	+	Splice_Site	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:170062841T>A	ENST00000263816.3	-	39	7674	c.7389A>T	c.(7387-7389)tcA>tcT	p.S2463S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2463					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)"""	TGCACTTACCTGAAGCAATGA	0.448																																					p.S2463S		Atlas-SNP	.											.	LRP2	751	.	0			c.A7389T						.						57.0	60.0	59.0					2																	170062841		2203	4300	6503	SO:0001630	splice_region_variant	4036	exon39			CTTACCTGAAGCA		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.7390+1A>T	chr2.hg19:g.170062841T>A		80.0	0.0		68.0	33.0	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																			.	.		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Silent
TTN	7273	hgsc.bcm.edu	37	2	179428033	179428033	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:179428033A>T	ENST00000591111.1	-	276	78127	c.77903T>A	c.(77902-77904)gTc>gAc	p.V25968D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25041D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27609D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18544D|TTN_ENST00000359218.5_Missense_Mutation_p.V18669D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18736D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25968	Fibronectin type-III 89. {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)			AGCTTCTTTGACCTCTACAAC	0.453																																					p.V27609D		Atlas-SNP	.											.	TTN	18412	.	0			c.T82826A						.						79.0	79.0	79.0					2																	179428033		2042	4216	6258	SO:0001583	missense	7273	exon326			TCTTTGACCTCTA	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.77903T>A	chr2.hg19:g.179428033A>T	ENSP00000465570:p.Val25968Asp	129.0	0.0		108.0	35.0	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		.	.	.	.	.	.	.	.	.	.	A	13.62	2.290134	0.40494	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.74	0.687	0.18020	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50222	0.1603	L	0.56199	1.76	0.28016	N	0.934721	B;B;B;B	0.24576	0.055;0.055;0.055;0.106	B;B;B;B	0.28385	0.048;0.048;0.089;0.089	T	0.51068	-0.8752	9	0.87932	D	0	.	6.6545	0.22981	0.6286:0.1164:0.255:0.0	.	18544;18669;18736;25968	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	25041;18544;18736;18669;18542	ENSP00000343764:V25041D;ENSP00000434586:V18544D;ENSP00000340554:V18736D;ENSP00000352154:V18669D	ENSP00000340554:V18736D	V	-	2	0	TTN	179136279	0.978000	0.34361	0.956000	0.39512	0.936000	0.57629	1.718000	0.38001	0.096000	0.17463	0.460000	0.39030	GTC	.	.		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179436145	179436145	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:179436145G>A	ENST00000591111.1	-	276	70015	c.69791C>T	c.(69790-69792)cCa>cTa	p.P23264L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22337L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24905L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15840L|TTN_ENST00000359218.5_Missense_Mutation_p.P15965L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16032L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23264	Fibronectin type-III 68. {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)			AACTTTGAATGGATATTGGGC	0.458																																					p.P24905L		Atlas-SNP	.											.	TTN	18412	.	0			c.C74714T						.						110.0	100.0	103.0					2																	179436145		1926	4144	6070	SO:0001583	missense	7273	exon326			TTGAATGGATATT	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.69791C>T	chr2.hg19:g.179436145G>A	ENSP00000465570:p.Pro23264Leu	115.0	0.0		96.0	31.0	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		.	.	.	.	.	.	.	.	.	.	G	12.95	2.090381	0.36855	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.39	4.5	0.54988	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62672	0.2447	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.59767	0.986;0.986;0.986;0.974	P;P;P;P	0.50970	0.655;0.655;0.655;0.563	T	0.72074	-0.4400	9	0.87932	D	0	.	15.9687	0.79995	0.0:0.0:0.8645:0.1355	.	15840;15965;16032;23264	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22337;15840;16032;15965;15838	ENSP00000343764:P22337L;ENSP00000434586:P15840L;ENSP00000340554:P16032L;ENSP00000352154:P15965L	ENSP00000340554:P16032L	P	-	2	0	TTN	179144391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	1.384000	0.46424	0.650000	0.86243	CCA	.	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179605680	179605680	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:179605680A>T	ENST00000591111.1	-	46	11553	c.11329T>A	c.(11329-11331)Tat>Aat	p.Y3777N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y4094N|TTN_ENST00000460472.2_Missense_Mutation_p.Y3731N|TTN_ENST00000359218.5_Missense_Mutation_p.Y3856N|TTN_ENST00000342175.6_Missense_Mutation_p.Y3923N			Q8WZ42	TITIN_HUMAN	titin	33949					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)			ATATGCTCATAAGATAGTTGC	0.413																																					p.Y4094N		Atlas-SNP	.											.	TTN	18412	.	0			c.T12280A						.						98.0	96.0	96.0					2																	179605680		1874	4101	5975	SO:0001583	missense	7273	exon48			GCTCATAAGATAG	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.11329T>A	chr2.hg19:g.179605680A>T	ENSP00000465570:p.Tyr3777Asn	90.0	0.0		76.0	28.0	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		.	.	.	.	.	.	.	.	.	.	A	4.395	0.072873	0.08436	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60299	0.26;0.21;0.2	4.5	2.0	0.26442	.	.	.	.	.	T	0.41581	0.1165	L	0.27053	0.805	0.20403	N	0.999903	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.14023	0.005;0.005;0.01	T	0.36089	-0.9762	9	0.87932	D	0	.	6.0807	0.19940	0.6611:0.1735:0.1655:0.0	.	3731;3856;3923	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3731;3923;3856;3731	ENSP00000434586:Y3731N;ENSP00000340554:Y3923N;ENSP00000352154:Y3856N	ENSP00000340554:Y3923N	Y	-	1	0	TTN	179313925	0.154000	0.22792	0.267000	0.24556	0.137000	0.21094	0.544000	0.23253	0.277000	0.22141	0.533000	0.62120	TAT	.	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PARD3B	117583	hgsc.bcm.edu	37	2	205912302	205912302	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:205912302A>T	ENST00000406610.2	+	4	601		c.e4-1		PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site|PARD3B_ENST00000358768.2_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTGTCTTCCAGGCACTCCAC	0.512																																					.		Atlas-SNP	.											.	PARD3B	314	.	0			c.395-2A>T						.						35.0	36.0	36.0					2																	205912302		1859	3913	5772	SO:0001630	splice_region_variant	117583	exon4			TCTTCCAGGCACT	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.395-1A>T	chr2.hg19:g.205912302A>T		72.0	0.0		48.0	24.0	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Splice_Site	SNP	ENST00000406610.2	hg19		.	.	.	.	.	.	.	.	.	.	A	18.37	3.610226	0.66558	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5891	0.61948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARD3B	205620547	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	5.600000	0.67599	2.220000	0.72140	0.533000	0.62120	.	.	.		0.512	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	Intron
GLB1L	79411	hgsc.bcm.edu	37	2	220104515	220104515	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:220104515A>T	ENST00000295759.7	-	8	1075	c.762T>A	c.(760-762)taT>taA	p.Y254*	GLB1L_ENST00000356283.3_Nonsense_Mutation_p.Y164*|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Nonsense_Mutation_p.Y164*|GLB1L_ENST00000392089.2_Nonsense_Mutation_p.Y254*			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	254					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGGGTTCATACTTCCGAA	0.493																																					p.Y254X		Atlas-SNP	.											.	GLB1L	52	.	0			c.T762A						.						90.0	92.0	91.0					2																	220104515		2203	4300	6503	SO:0001587	stop_gained	79411	exon8			GGGTTCATACTTC		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.762T>A	chr2.hg19:g.220104515A>T	ENSP00000295759:p.Tyr254*	214.0	0.0		186.0	87.0	NM_024506	Q96DR0	Nonsense_Mutation	SNP	ENST00000295759.7	hg19	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969675	0.74246	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	.	.	.	5.64	3.22	0.36961	.	0.177191	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7038	7.1368	0.25533	0.7434:0.1239:0.1327:0.0	.	.	.	.	X	254;164;254;164	.	ENSP00000295759:Y254X	Y	-	3	2	GLB1L	219812759	0.996000	0.38824	1.000000	0.80357	0.903000	0.53119	0.567000	0.23608	0.534000	0.28695	0.528000	0.53228	TAT	.	.		0.493	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
SPEG	10290	hgsc.bcm.edu	37	2	220344852	220344852	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:220344852A>T	ENST00000312358.7	+	25	5464	c.5332A>T	c.(5332-5334)Act>Tct	p.T1778S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1778	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCTGGAGTCACTGACATCTG	0.617																																					p.T1778S		Atlas-SNP	.											.	SPEG	272	.	0			c.A5332T						.						61.0	65.0	63.0					2																	220344852		2068	4206	6274	SO:0001583	missense	10290	exon25			GGAGTCACTGACA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5332A>T	chr2.hg19:g.220344852A>T	ENSP00000311684:p.Thr1778Ser	60.0	0.0		37.0	16.0	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	a	16.87	3.243199	0.58995	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.35236	1.32	4.36	4.36	0.52297	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	0.40728	N	0.001021	T	0.34890	0.0913	N	0.12637	0.245	0.80722	D	1	P	0.36683	0.565	P	0.49953	0.627	T	0.39396	-0.9616	10	0.54805	T	0.06	.	14.0438	0.64693	1.0:0.0:0.0:0.0	.	1778	Q15772	SPEG_HUMAN	S	1778	ENSP00000311684:T1778S	ENSP00000265327:T1778S	T	+	1	0	SPEG	220053096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.829000	0.62737	1.962000	0.57031	0.492000	0.49549	ACT	.	.		0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
SLC4A3	6508	hgsc.bcm.edu	37	2	220501121	220501121	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:220501121T>A	ENST00000358055.3	+	15	2801	c.2289T>A	c.(2287-2289)ctT>ctA	p.L763L	SLC4A3_ENST00000373762.3_Silent_p.L790L|SLC4A3_ENST00000373760.2_Silent_p.L763L|SLC4A3_ENST00000273063.6_Silent_p.L790L|SLC4A3_ENST00000317151.3_Silent_p.L763L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	763	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCGCTGCTTGTGGTTGGCT	0.617																																					p.L790L		Atlas-SNP	.											.	SLC4A3	144	.	0			c.T2370A						.						81.0	75.0	77.0					2																	220501121		2203	4299	6502	SO:0001819	synonymous_variant	6508	exon15			GCTGCTTGTGGTT		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2289T>A	chr2.hg19:g.220501121T>A		47.0	0.0		36.0	14.0	NM_201574	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	hg19	CCDS2445.1																																																																																			.	.		0.617	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
DGKD	8527	hgsc.bcm.edu	37	2	234296973	234296973	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr2:234296973A>T	ENST00000264057.2	+	2	239	c.227A>T	c.(226-228)aAg>aTg	p.K76M	DGKD_ENST00000489613.1_3'UTR|DGKD_ENST00000409813.3_Missense_Mutation_p.K32M|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	76	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGATACTTTAAGCTTCGAGGG	0.478																																					p.K76M		Atlas-SNP	.											.	DGKD	106	.	0			c.A227T						.						125.0	120.0	122.0					2																	234296973		2203	4300	6503	SO:0001583	missense	8527	exon2			ACTTTAAGCTTCG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.227A>T	chr2.hg19:g.234296973A>T	ENSP00000264057:p.Lys76Met	333.0	0.0		212.0	91.0	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	hg19	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458088	0.84317	.	.	ENSG00000077044	ENST00000264057;ENST00000447484;ENST00000409813	T;T;T	0.75154	-0.91;-0.91;-0.91	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.069907	0.56097	D	0.000034	D	0.82531	0.5057	L	0.48986	1.54	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.83505	0.0077	10	0.56958	D	0.05	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	32;76	Q16760-2;Q16760	.;DGKD_HUMAN	M	76;46;32	ENSP00000264057:K76M;ENSP00000395530:K46M;ENSP00000386455:K32M	ENSP00000264057:K76M	K	+	2	0	DGKD	233961712	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.700000	0.74619	2.311000	0.77944	0.533000	0.62120	AAG	.	.		0.478	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
ITPR1	3708	hgsc.bcm.edu	37	3	4558209	4558209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:4558209G>T	ENST00000443694.2	+	1	34	c.34G>T	c.(34-36)Gga>Tga	p.G12*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.G12*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.G12*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.G12*|ITPR1_ENST00000544951.1_Nonsense_Mutation_p.G12*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.G12*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.G12*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	12					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCTACATATTGGAGACATTTG	0.378																																					p.G12X		Atlas-SNP	.											.	ITPR1	659	.	0			c.G34T						.						194.0	182.0	186.0					3																	4558209		1885	4105	5990	SO:0001587	stop_gained	3708	exon3			CATATTGGAGACA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.34G>T	chr3.hg19:g.4558209G>T	ENSP00000401671:p.Gly12*	127.0	0.0		109.0	5.0	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	39	7.627581	0.98399	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3298	0.90264	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000306253:G12X	G	+	1	0	ITPR1	4533209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.929000	0.92859	2.602000	0.87976	0.591000	0.81541	GGA	.	.		0.378	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
LHFPL4	375323	hgsc.bcm.edu	37	3	9547751	9547751	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:9547751G>C	ENST00000287585.6	-	3	828	c.543C>G	c.(541-543)atC>atG	p.I181M		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	194						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGATGCCGATGATGGCCAGGA	0.612																																					p.I181M		Atlas-SNP	.											.	LHFPL4	34	.	0			c.C543G						.						172.0	132.0	146.0					3																	9547751		2203	4300	6503	SO:0001583	missense	375323	exon3			GCCGATGATGGCC	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.543C>G	chr3.hg19:g.9547751G>C	ENSP00000287585:p.Ile181Met	174.0	0.0		129.0	10.0	NM_198560	A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	hg19	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607769	0.66558	.	.	ENSG00000156959	ENST00000287585	T	0.74209	-0.82	5.5	3.67	0.42095	.	0.000000	0.64402	U	0.000002	T	0.78780	0.4337	M	0.70903	2.155	0.54753	D	0.999987	P	0.44429	0.835	P	0.53518	0.728	T	0.76631	-0.2888	10	0.54805	T	0.06	-10.1601	6.9409	0.24492	0.1459:0.0:0.7126:0.1414	.	181	Q7Z7J7	LHPL4_HUMAN	M	181	ENSP00000287585:I181M	ENSP00000287585:I181M	I	-	3	3	LHFPL4	9522751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.203000	0.58453	0.662000	0.31006	0.591000	0.81541	ATC	.	.		0.612	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
HRH1	3269	hgsc.bcm.edu	37	3	11300933	11300933	+	Silent	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:11300933G>A	ENST00000397056.1	+	3	401	c.210G>A	c.(208-210)tcG>tcA	p.S70S	HRH1_ENST00000431010.2_Silent_p.S70S|HRH1_ENST00000438284.2_Silent_p.S70S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	70					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCAGCCTCTCGGTGGCGGACT	0.582																																					p.S70S		Atlas-SNP	.											.	HRH1	58	.	0			c.G210A						.						151.0	118.0	129.0					3																	11300933		2203	4300	6503	SO:0001819	synonymous_variant	3269	exon3			CCTCTCGGTGGCG		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.210G>A	chr3.hg19:g.11300933G>A		110.0	0.0		97.0	37.0	NM_000861	A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	hg19	CCDS2604.1																																																																																			.	.		0.582	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2		
RFTN1	23180	hgsc.bcm.edu	37	3	16450985	16450985	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:16450985T>A	ENST00000334133.4	-	4	610	c.338A>T	c.(337-339)cAg>cTg	p.Q113L	RFTN1_ENST00000432519.1_Missense_Mutation_p.Q77L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	113					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCAGTTTTCTGAGATCTGAA	0.423																																					p.Q113L		Atlas-SNP	.											.	RFTN1	79	.	0			c.A338T						.						106.0	102.0	103.0					3																	16450985		2203	4300	6503	SO:0001583	missense	23180	exon4			GTTTTCTGAGATC	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.338A>T	chr3.hg19:g.16450985T>A	ENSP00000334153:p.Gln113Leu	81.0	0.0		73.0	34.0	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	hg19	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121714	0.37436	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.63	5.63	0.86233	.	0.242616	0.42294	D	0.000727	T	0.30166	0.0756	M	0.64997	1.995	0.37333	D	0.910046	B;B	0.28082	0.2;0.11	B;B	0.21360	0.034;0.018	T	0.20706	-1.0267	10	0.32370	T	0.25	-24.212	12.2288	0.54476	0.0:0.0:0.0:1.0	.	77;113	G3XAJ6;Q14699	.;RFTN1_HUMAN	L	77;113;113;113;113;113	ENSP00000403926:Q77L;ENSP00000334153:Q113L;ENSP00000403997:Q113L;ENSP00000409427:Q113L;ENSP00000388718:Q113L;ENSP00000393216:Q113L	ENSP00000334153:Q113L	Q	-	2	0	RFTN1	16425989	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	1.299000	0.33424	2.145000	0.66743	0.533000	0.62120	CAG	.	.		0.423	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
ACAA1	30	hgsc.bcm.edu	37	3	38180513	38180513	+	5'Flank	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:38180513A>T	ENST00000333167.8	-	0	0				MYD88_ENST00000443433.2_Missense_Mutation_p.S121C|ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000417037.2_Missense_Mutation_p.S121C|MYD88_ENST00000495303.1_Missense_Mutation_p.S121C|ACAA1_ENST00000544624.1_5'Flank|MYD88_ENST00000396334.3_Missense_Mutation_p.S121C|ACAA1_ENST00000450296.1_5'Flank|ACAA1_ENST00000444607.2_5'Flank|MYD88_ENST00000424893.1_Missense_Mutation_p.S121C	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCTGGGACCCAGCATTGGTGA	0.667																																					p.S121C		Atlas-SNP	.											.	MYD88	900	.	0			c.A361T						.																																			SO:0001631	upstream_gene_variant	4615	exon1			GGACCCAGCATTG	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		chr3.hg19:g.38180513A>T	Exception_encountered	49.0	0.0		41.0	16.0	NM_002468	G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	hg19	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640234	0.67244	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000495303;ENST00000443433;ENST00000421571;ENST00000421516;ENST00000415158	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.15	1.72	0.24424	Death (2);DEATH-like (2);	0.443565	0.24881	N	0.034852	T	0.65091	0.2658	L	0.60455	1.87	0.21020	N	0.999802	D;D;D;D;D;P	0.89917	0.98;1.0;1.0;0.984;0.999;0.939	P;D;D;P;D;P	0.75484	0.846;0.968;0.986;0.855;0.961;0.598	T	0.52578	-0.8557	10	0.38643	T	0.18	-4.7723	5.6047	0.17373	0.5562:0.3522:0.0917:0.0	.	108;121;121;108;108;97	Q99836-2;B4DQ60;B4DQ72;Q99836;B4DU08;B4E3D6	.;.;.;MYD88_HUMAN;.;.	C	121;121;121;121;121;108;120;97	ENSP00000401399:S121C;ENSP00000379625:S121C;ENSP00000389979:S121C;ENSP00000417848:S121C;ENSP00000390565:S121C;ENSP00000391753:S120C	ENSP00000379625:S121C	S	+	1	0	MYD88	38155517	0.006000	0.16342	0.454000	0.27019	0.992000	0.81027	0.040000	0.13905	0.253000	0.21552	0.459000	0.35465	AGC	.	.		0.667	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
CSPG5	10675	hgsc.bcm.edu	37	3	47614356	47614356	+	Missense_Mutation	SNP	G	G	A	rs371926119		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:47614356G>A	ENST00000383738.2	-	3	3300	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	CSPG5_ENST00000264723.4_Missense_Mutation_p.T401M|CSPG5_ENST00000456150.1_Missense_Mutation_p.T263M	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	401	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTAGTCCTGCGTGTTGCACCT	0.632																																					p.T401M		Atlas-SNP	.											.	CSPG5	46	.	0			c.C1202T						.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	71.0	63.0	66.0		788,1202,1202,788,1202	4.8	1.0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CSPG5	NM_001206942.1,NM_001206943.1,NM_001206944.1,NM_001206945.1,NM_006574.3	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	263/402,401/567,401/478,263/429,401/540	47614356	1,13005	2203	4300	6503	SO:0001583	missense	10675	exon3			TCCTGCGTGTTGC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1202C>T	chr3.hg19:g.47614356G>A	ENSP00000373244:p.Thr401Met	180.0	0.0		113.0	48.0	NM_006574	Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	hg19	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151697	0.78001	0.0	1.16E-4	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.25749	1.82;1.78;1.78	4.81	4.81	0.61882	Epidermal growth factor-like (1);	0.148962	0.47093	D	0.000246	T	0.36276	0.0961	N	0.22421	0.69	0.35794	D	0.822622	D;D	0.89917	0.999;1.0	P;D	0.70487	0.908;0.969	T	0.45659	-0.9246	10	0.56958	D	0.05	-11.5546	15.4314	0.75102	0.0:0.0:1.0:0.0	.	401;401	O95196;O95196-2	CSPG5_HUMAN;.	M	263;401;401	ENSP00000392096:T263M;ENSP00000373244:T401M;ENSP00000264723:T401M	ENSP00000264723:T401M	T	-	2	0	CSPG5	47589360	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	5.246000	0.65411	2.501000	0.84356	0.561000	0.74099	ACG	.	.		0.632	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574	
DHX30	22907	hgsc.bcm.edu	37	3	47889323	47889323	+	Silent	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:47889323A>G	ENST00000445061.1	+	14	2570	c.2163A>G	c.(2161-2163)ccA>ccG	p.P721P	DHX30_ENST00000457607.1_Silent_p.P749P|DHX30_ENST00000348968.4_Silent_p.P693P|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Silent_p.P682P	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	721	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCAGCCTCCAGTTGGGGTGC	0.527																																					p.P721P		Atlas-SNP	.											.	DHX30	101	.	0			c.A2163G						.						111.0	88.0	96.0					3																	47889323		2203	4300	6503	SO:0001819	synonymous_variant	22907	exon14			GCCTCCAGTTGGG	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2163A>G	chr3.hg19:g.47889323A>G		184.0	0.0		110.0	43.0	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	hg19	CCDS2759.1																																																																																			.	.		0.527	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
IL17RD	54756	hgsc.bcm.edu	37	3	57135384	57135384	+	Silent	SNP	T	T	A	rs143634778		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:57135384T>A	ENST00000296318.7	-	11	1075	c.987A>T	c.(985-987)atA>atT	p.I329I	IL17RD_ENST00000463523.1_Silent_p.I185I|IL17RD_ENST00000427856.2_Silent_p.I305I|IL17RD_ENST00000320057.5_Silent_p.I185I	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	329					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AATGTGAATATATATTTTCTA	0.413																																					p.I329I		Atlas-SNP	.											.	IL17RD	93	.	0			c.A987T						.						27.0	30.0	29.0					3																	57135384		2202	4300	6502	SO:0001819	synonymous_variant	54756	exon11			TGAATATATATTT	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.987A>T	chr3.hg19:g.57135384T>A		62.0	0.0		57.0	21.0	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	hg19	CCDS2880.2																																																																																			.	T|1.000;C|0.000		0.413	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
DZIP3	9666	hgsc.bcm.edu	37	3	108407715	108407715	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:108407715A>T	ENST00000361582.3	+	31	3690	c.3460A>T	c.(3460-3462)Aat>Tat	p.N1154Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.N1154Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1154					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						CTGTCATGAGAATCTGTCTCC	0.363																																					p.N1154Y		Atlas-SNP	.											.	DZIP3	111	.	0			c.A3460T						.						111.0	106.0	108.0					3																	108407715		2203	4300	6503	SO:0001583	missense	9666	exon31			CATGAGAATCTGT	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.3460A>T	chr3.hg19:g.108407715A>T	ENSP00000355028:p.Asn1154Tyr	347.0	0.0		272.0	126.0	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.695970	0.68386	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.42900	0.96;0.96	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	D	0.000016	T	0.49575	0.1565	N	0.25485	0.75	0.36437	D	0.865234	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.994	T	0.57688	-0.7768	10	0.48119	T	0.1	-25.206	11.6796	0.51451	1.0:0.0:0.0:0.0	.	772;1154	D3DN61;Q86Y13	.;DZIP3_HUMAN	Y	1154	ENSP00000355028:N1154Y;ENSP00000419981:N1154Y	ENSP00000355028:N1154Y	N	+	1	0	DZIP3	109890405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.571000	0.45990	2.246000	0.74042	0.533000	0.62120	AAT	.	.		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
MYLK	4638	hgsc.bcm.edu	37	3	123419013	123419013	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:123419013T>A	ENST00000475616.1	-	15	3301	c.3302A>T	c.(3301-3303)aAg>aTg	p.K1101M	MYLK_ENST00000346322.5_Missense_Mutation_p.K1032M|MYLK_ENST00000360772.3_Missense_Mutation_p.K1101M|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.K1101M|MYLK_ENST00000360304.3_Missense_Mutation_p.K1101M			Q15746	MYLK_HUMAN	myosin light chain kinase	1101	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTTCTGCTTGAAGGCTGG	0.532																																					p.K1101M		Atlas-SNP	.											.	MYLK	224	.	0			c.A3302T						.						116.0	116.0	116.0					3																	123419013		2203	4300	6503	SO:0001583	missense	4638	exon18			TTCTGCTTGAAGG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3302A>T	chr3.hg19:g.123419013T>A	ENSP00000418335:p.Lys1101Met	71.0	0.0		38.0	20.0	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	7.309	0.614676	0.14129	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.76	-3.31	0.04988	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28732	0.0712	L	0.31157	0.91	0.58432	D	0.999999	B;B;B;B;B;B	0.27117	0.004;0.014;0.168;0.021;0.046;0.006	B;B;B;B;B;B	0.26094	0.017;0.017;0.066;0.046;0.045;0.029	T	0.12477	-1.0546	9	0.45353	T	0.12	.	13.1922	0.59717	0.0969:0.0:0.7089:0.1942	.	1101;179;1032;1101;1032;1101	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1101;1101;1101;1032;1101	ENSP00000354004:K1101M;ENSP00000353452:K1101M;ENSP00000352088:K1101M;ENSP00000320622:K1032M;ENSP00000418335:K1101M	ENSP00000320622:K1032M	K	-	2	0	MYLK	124901703	0.997000	0.39634	0.974000	0.42286	0.029000	0.11900	1.169000	0.31871	-0.182000	0.10602	0.454000	0.30748	AAG	.	.		0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
RPN1	6184	hgsc.bcm.edu	37	3	128356921	128356921	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:128356921T>A	ENST00000296255.3	-	3	402	c.354A>T	c.(352-354)ccA>ccT	p.P118P	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	118					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CAAGAGCAACTGGGAGCTTGA	0.458			T	EVI1	AML																																p.P118P		Atlas-SNP	.		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	.	RPN1	39	.	0			c.A354T						.						85.0	77.0	79.0					3																	128356921		2203	4300	6503	SO:0001819	synonymous_variant	6184	exon3			AGCAACTGGGAGC		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.354A>T	chr3.hg19:g.128356921T>A		112.0	0.0		84.0	43.0	NM_002950	B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	ENST00000296255.3	hg19	CCDS3051.1																																																																																			.	.		0.458	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950	
ATR	545	hgsc.bcm.edu	37	3	142268433	142268433	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:142268433T>A	ENST00000350721.4	-	15	3180	c.3059A>T	c.(3058-3060)cAa>cTa	p.Q1020L	ATR_ENST00000383101.3_Missense_Mutation_p.Q956L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1020					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GACATTTAATTGTTTTCCTAA	0.358								Other conserved DNA damage response genes																													p.Q1020L		Atlas-SNP	.											.	ATR	285	.	0			c.A3059T						.						49.0	51.0	50.0					3																	142268433		2199	4299	6498	SO:0001583	missense	545	exon15			TTTAATTGTTTTC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3059A>T	chr3.hg19:g.142268433T>A	ENSP00000343741:p.Gln1020Leu	478.0	0.0		389.0	176.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751559	0.31046	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.55930	0.49;0.49	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.122584	0.56097	D	0.000034	T	0.36468	0.0968	N	0.19112	0.55	0.58432	D	0.999999	B	0.18863	0.031	B	0.13407	0.009	T	0.20075	-1.0286	10	0.13108	T	0.6	-16.7171	14.3368	0.66595	0.0:0.0:0.0:1.0	.	1020	Q13535	ATR_HUMAN	L	1020;956	ENSP00000343741:Q1020L;ENSP00000372581:Q956L	ENSP00000343741:Q1020L	Q	-	2	0	ATR	143751123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.523000	0.81856	2.129000	0.65627	0.533000	0.62120	CAA	.	.		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
CPB1	1360	hgsc.bcm.edu	37	3	148558490	148558490	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:148558490T>A	ENST00000491148.1	+	5	624	c.290T>A	c.(289-291)cTg>cAg	p.L97Q	CPB1_ENST00000282957.4_Missense_Mutation_p.L97Q			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	97						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATAAGCAACCTGAGAAATGTG	0.458																																					p.L97Q		Atlas-SNP	.											.	CPB1	74	.	0			c.T290A						.						150.0	153.0	152.0					3																	148558490		2203	4300	6503	SO:0001583	missense	1360	exon4			GCAACCTGAGAAA	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.290T>A	chr3.hg19:g.148558490T>A	ENSP00000417222:p.Leu97Gln	168.0	0.0		153.0	65.0	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	hg19	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405243	0.42613	.	.	ENSG00000153002	ENST00000491148;ENST00000462345;ENST00000282957;ENST00000468341	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.15	5.15	0.70609	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.157745	0.43747	D	0.000522	T	0.49098	0.1537	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.55698	-0.8100	10	0.87932	D	0	.	15.0077	0.71524	0.0:0.0:0.0:1.0	.	97	P15086	CBPB1_HUMAN	Q	97	ENSP00000417222:L97Q;ENSP00000417117:L97Q;ENSP00000282957:L97Q;ENSP00000419427:L97Q	ENSP00000282957:L97Q	L	+	2	0	CPB1	150041180	1.000000	0.71417	0.977000	0.42913	0.093000	0.18481	7.422000	0.80217	1.934000	0.56057	0.533000	0.62120	CTG	.	.		0.458	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
LAMP3	27074	hgsc.bcm.edu	37	3	182871558	182871558	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr3:182871558T>A	ENST00000265598.3	-	2	926	c.671A>T	c.(670-672)aAg>aTg	p.K224M	LAMP3_ENST00000466939.1_Missense_Mutation_p.K200M	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	224					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATTCCAGTCTTGACTGACGA	0.547																																					p.K224M		Atlas-SNP	.											.	LAMP3	48	.	0			c.A671T						.						106.0	100.0	102.0					3																	182871558		2203	4300	6503	SO:0001583	missense	27074	exon2			CCAGTCTTGACTG	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.671A>T	chr3.hg19:g.182871558T>A	ENSP00000265598:p.Lys224Met	122.0	0.0		125.0	52.0	NM_014398	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	hg19	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125473	0.56721	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.34472	1.36;1.36	5.81	1.96	0.26148	.	0.496664	0.20344	N	0.094173	T	0.50480	0.1618	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.70716	0.97	T	0.33420	-0.9869	10	0.66056	D	0.02	-5.1605	4.398	0.11372	0.0:0.173:0.1687:0.6582	.	224	Q9UQV4	LAMP3_HUMAN	M	224;200	ENSP00000265598:K224M;ENSP00000418912:K200M	ENSP00000265598:K224M	K	-	2	0	LAMP3	184354252	0.429000	0.25530	0.415000	0.26534	0.029000	0.11900	0.656000	0.24948	0.468000	0.27243	-0.256000	0.11100	AAG	.	.		0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
EVC2	132884	hgsc.bcm.edu	37	4	5570231	5570231	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:5570231T>A	ENST00000344408.5	-	20	3550	c.3497A>T	c.(3496-3498)cAt>cTt	p.H1166L	EVC2_ENST00000344938.1_Missense_Mutation_p.H1166L|EVC2_ENST00000310917.2_Missense_Mutation_p.H1086L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1166					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGGTCCACATGTCTCTCGGT	0.701																																					p.H1166L		Atlas-SNP	.											.	EVC2	202	.	0			c.A3497T						.						25.0	25.0	25.0					4																	5570231		2200	4298	6498	SO:0001583	missense	132884	exon20			TCCACATGTCTCT	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3497A>T	chr4.hg19:g.5570231T>A	ENSP00000342144:p.His1166Leu	81.0	0.0		81.0	40.0	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	hg19	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	9.678	1.148655	0.21288	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74632	-0.85;-0.85;-0.86	5.0	5.0	0.66597	.	0.701841	0.14452	N	0.318727	T	0.61098	0.2320	L	0.27053	0.805	0.18873	N	0.999984	B	0.29716	0.255	B	0.22152	0.038	T	0.56312	-0.8000	10	0.54805	T	0.06	-15.7781	11.0918	0.48121	0.0:0.0:0.0:1.0	.	1166	Q86UK5	LBN_HUMAN	L	1166;1086;1166	ENSP00000339954:H1166L;ENSP00000311683:H1086L;ENSP00000342144:H1166L	ENSP00000311683:H1086L	H	-	2	0	EVC2	5621132	0.632000	0.27172	0.049000	0.19019	0.003000	0.03518	2.239000	0.43079	1.886000	0.54624	0.334000	0.21626	CAT	.	.		0.701	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
CRMP1	1400	hgsc.bcm.edu	37	4	5868428	5868428	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:5868428T>A	ENST00000397890.2	-	2	309	c.95A>T	c.(94-96)tAt>tTt	p.Y32F	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.Y146F|CRMP1_ENST00000512574.1_Missense_Mutation_p.Y30F	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	32					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACGTCAGCATAAAGGGATTG	0.483																																					p.Y146F		Atlas-SNP	.											.	CRMP1	118	.	0			c.A437T						.						153.0	132.0	139.0					4																	5868428		2203	4300	6503	SO:0001583	missense	1400	exon2			TCAGCATAAAGGG	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.95A>T	chr4.hg19:g.5868428T>A	ENSP00000380987:p.Tyr32Phe	118.0	0.0		115.0	48.0	NM_001014809	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	hg19	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.649880	0.29336	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.85339	-1.97;-1.95;-1.95	3.96	3.96	0.45880	Metal-dependent hydrolase, composite domain (1);	0.000000	0.64402	D	0.000001	T	0.79793	0.4507	L	0.52823	1.66	0.46981	D	0.999273	B;B;B	0.25312	0.002;0.027;0.123	B;B;B	0.26693	0.014;0.012;0.072	T	0.73023	-0.4113	10	0.11794	T	0.64	-12.1897	12.1777	0.54194	0.0:0.0:0.0:1.0	.	146;30;32	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	F	146;32;32;30	ENSP00000321606:Y146F;ENSP00000380987:Y32F;ENSP00000425742:Y30F	ENSP00000321606:Y146F	Y	-	2	0	CRMP1	5919329	1.000000	0.71417	0.972000	0.41901	0.942000	0.58702	3.518000	0.53451	1.659000	0.50751	0.460000	0.39030	TAT	.	.		0.483	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
CHRNA9	55584	hgsc.bcm.edu	37	4	40351387	40351387	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:40351387T>C	ENST00000310169.2	+	4	993	c.854T>C	c.(853-855)aTg>aCg	p.M285T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	285					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTTCAGCTAATGGTGGCAGAA	0.522																																					p.M285T	Esophageal Squamous(115;1297 1602 22235 25158 43327)	Atlas-SNP	.											.	CHRNA9	53	.	0			c.T854C						.						91.0	97.0	95.0					4																	40351387		2203	4300	6503	SO:0001583	missense	55584	exon4			AGCTAATGGTGGC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.854T>C	chr4.hg19:g.40351387T>C	ENSP00000312663:p.Met285Thr	202.0	0.0		157.0	54.0	NM_017581	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	hg19	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794675	0.50102	.	.	ENSG00000174343	ENST00000310169	D	0.85013	-1.93	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.74467	2.265	0.80722	D	1	P	0.52316	0.952	P	0.57846	0.828	D	0.91834	0.5478	10	0.87932	D	0	.	15.7833	0.78281	0.0:0.0:0.0:1.0	.	285	Q9UGM1	ACHA9_HUMAN	T	285	ENSP00000312663:M285T	ENSP00000312663:M285T	M	+	2	0	CHRNA9	40046144	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	8.040000	0.89188	2.133000	0.65898	0.459000	0.35465	ATG	.	.		0.522	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
PDGFRA	5156	hgsc.bcm.edu	37	4	55127497	55127497	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:55127497A>T	ENST00000257290.5	+	3	616	c.285A>T	c.(283-285)acA>acT	p.T95T	PDGFRA_ENST00000508170.1_Silent_p.T95T|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	95	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CGGCCCACACAGGGTTGTACA	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.T95T	Pancreas(151;208 1913 7310 23853 37092)	Atlas-SNP	.		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	PDGFRA	1583	.	0			c.A285T						.						183.0	188.0	187.0					4																	55127497		2203	4300	6503	SO:0001819	synonymous_variant	5156	exon3	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	CCACACAGGGTTG	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.285A>T	chr4.hg19:g.55127497A>T		114.0	0.0		116.0	51.0	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	hg19	CCDS3495.1																																																																																			.	.		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
WDFY3	23001	hgsc.bcm.edu	37	4	85678264	85678264	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:85678264T>A	ENST00000295888.4	-	33	5646	c.5239A>T	c.(5239-5241)Aac>Tac	p.N1747Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.N1747Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1747					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCATCTCGGTTAATCTCCCTG	0.448																																					p.N1747Y		Atlas-SNP	.											.	WDFY3	314	.	0			c.A5239T						.						139.0	130.0	133.0					4																	85678264		2203	4300	6503	SO:0001583	missense	23001	exon33			CTCGGTTAATCTC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5239A>T	chr4.hg19:g.85678264T>A	ENSP00000295888:p.Asn1747Tyr	218.0	0.0		165.0	76.0	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683762	0.88639	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66460	-0.2;-0.21	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	T	0.80876	-0.1186	10	0.72032	D	0.01	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1747	Q8IZQ1	WDFY3_HUMAN	Y	1747	ENSP00000318466:N1747Y;ENSP00000295888:N1747Y	ENSP00000295888:N1747Y	N	-	1	0	WDFY3	85897288	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	AAC	.	.		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
PRSS12	8492	hgsc.bcm.edu	37	4	119256640	119256640	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:119256640T>A	ENST00000296498.3	-	3	1090	c.808A>T	c.(808-810)Agc>Tgc	p.S270C		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	270	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGGGAAAAGCTACACGTGACA	0.388																																					p.S270C		Atlas-SNP	.											.	PRSS12	71	.	0			c.A808T						.						112.0	109.0	110.0					4																	119256640		2203	4300	6503	SO:0001583	missense	8492	exon3			AAAAGCTACACGT	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.808A>T	chr4.hg19:g.119256640T>A	ENSP00000296498:p.Ser270Cys	107.0	0.0		93.0	44.0	NM_003619	Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	hg19	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505528	0.64410	.	.	ENSG00000164099	ENST00000296498	T	0.33865	1.39	5.96	4.79	0.61399	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.414871	0.30695	N	0.009078	T	0.49321	0.1550	M	0.93678	3.445	0.36671	D	0.878483	B	0.15930	0.015	B	0.16289	0.015	T	0.58103	-0.7695	10	0.66056	D	0.02	.	10.5696	0.45192	0.0:0.0723:0.0:0.9277	.	270	P56730	NETR_HUMAN	C	270	ENSP00000296498:S270C	ENSP00000296498:S270C	S	-	1	0	PRSS12	119476088	1.000000	0.71417	0.087000	0.20705	0.653000	0.38743	4.792000	0.62467	1.094000	0.41399	0.528000	0.53228	AGC	.	.		0.388	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
GUCY1A3	2982	hgsc.bcm.edu	37	4	156634263	156634263	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr4:156634263A>T	ENST00000296518.7	+	7	1309	c.1100A>T	c.(1099-1101)aAa>aTa	p.K367I	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.K367I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.K367I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.K367I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.K367I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.K109I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.K367I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	367					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGGACCTCAAAGGCCAAATG	0.408																																					p.K367I		Atlas-SNP	.											.	GUCY1A3	133	.	0			c.A1100T						.						66.0	63.0	64.0					4																	156634263		2203	4300	6503	SO:0001583	missense	2982	exon7			ACCTCAAAGGCCA		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1100A>T	chr4.hg19:g.156634263A>T	ENSP00000296518:p.Lys367Ile	84.0	0.0		57.0	47.0	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	hg19	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619832	0.87460	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.64402	D	0.000002	D	0.97526	0.9190	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98400	1.0567	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	367;367	B3KU69;Q02108	.;GCYA3_HUMAN	I	367;367;367;367;109;367;367	ENSP00000424361:K367I;ENSP00000421493:K367I;ENSP00000426968:K367I;ENSP00000412201:K367I;ENSP00000377418:K109I;ENSP00000296518:K367I;ENSP00000426040:K367I	ENSP00000296518:K367I	K	+	2	0	GUCY1A3	156853713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.930000	0.92872	2.308000	0.77769	0.533000	0.62120	AAA	.	.		0.408	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
DNAH5	1767	hgsc.bcm.edu	37	5	13737537	13737537	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:13737537A>T	ENST00000265104.4	-	66	11383	c.11279T>A	c.(11278-11280)cTa>cAa	p.L3760Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3760	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTATCTTCTAGTTCCTTCAT	0.398									Kartagener syndrome																												p.L3760Q		Atlas-SNP	.											.	DNAH5	868	.	0			c.T11279A						.						187.0	167.0	174.0					5																	13737537		2203	4300	6503	SO:0001583	missense	1767	exon66	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCTTCTAGTTCCT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11279T>A	chr5.hg19:g.13737537A>T	ENSP00000265104:p.Leu3760Gln	89.0	0.0		79.0	31.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508454	0.64410	.	.	ENSG00000039139	ENST00000265104	T	0.70869	-0.52	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	D	0.89245	0.6660	H	0.96398	3.815	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.92603	0.6093	10	0.87932	D	0	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	3760	Q8TE73	DYH5_HUMAN	Q	3760	ENSP00000265104:L3760Q	ENSP00000265104:L3760Q	L	-	2	0	DNAH5	13790537	1.000000	0.71417	0.519000	0.27824	0.673000	0.39480	7.025000	0.76449	2.172000	0.68678	0.533000	0.62120	CTA	.	.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MYO10	4651	hgsc.bcm.edu	37	5	16779678	16779678	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:16779678G>C	ENST00000513610.1	-	9	1360	c.906C>G	c.(904-906)gaC>gaG	p.D302E		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	302	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGATTCCTGGTCACTGATTG	0.323																																					p.D302E		Atlas-SNP	.											.	MYO10	198	.	0			c.C906G						.						100.0	92.0	95.0					5																	16779678		1821	4079	5900	SO:0001583	missense	4651	exon9			TTCCTGGTCACTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.906C>G	chr5.hg19:g.16779678G>C	ENSP00000421280:p.Asp302Glu	302.0	1.0		197.0	84.0	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975879	0.74360	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.93307	-3.2;-3.2	5.91	2.75	0.32379	Myosin head, motor domain (2);	.	.	.	.	D	0.96620	0.8897	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96735	0.9542	9	0.87932	D	0	.	13.0328	0.58851	0.2543:0.0:0.7457:0.0	.	302	Q9HD67	MYO10_HUMAN	E	302;313	ENSP00000421280:D302E;ENSP00000421309:D313E	ENSP00000421280:D302E	D	-	3	2	MYO10	16832678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.474000	0.45154	0.848000	0.35191	0.655000	0.94253	GAC	.	.		0.323	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MYO10	4651	hgsc.bcm.edu	37	5	16779718	16779718	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:16779718A>T	ENST00000513610.1	-	9	1320	c.866T>A	c.(865-867)tTg>tAg	p.L289*		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	289	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGACTGATTCAAGTAGTGGTA	0.338																																					p.L289X		Atlas-SNP	.											.	MYO10	198	.	0			c.T866A						.						90.0	83.0	85.0					5																	16779718		1831	4071	5902	SO:0001587	stop_gained	4651	exon9			TGATTCAAGTAGT	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.866T>A	chr5.hg19:g.16779718A>T	ENSP00000421280:p.Leu289*	292.0	0.0		216.0	100.0	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	41	8.879256	0.98988	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	.	.	.	X	289;300	.	ENSP00000421280:L289X	L	-	2	0	MYO10	16832718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.619000	0.90938	2.269000	0.75478	0.533000	0.62120	TTG	.	.		0.338	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
RAB3C	115827	hgsc.bcm.edu	37	5	58120945	58120945	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:58120945G>T	ENST00000282878.4	+	4	621	c.452G>T	c.(451-453)cGg>cTg	p.R151L		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GAAGACGAGCGGGTCATCTCA	0.363																																					p.R151L		Atlas-SNP	.											.	RAB3C	47	.	0			c.G452T						.						101.0	91.0	94.0					5																	58120945		2203	4300	6503	SO:0001583	missense	115827	exon4			ACGAGCGGGTCAT	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.452G>T	chr5.hg19:g.58120945G>T	ENSP00000282878:p.Arg151Leu	455.0	0.0		349.0	142.0	NM_138453		Missense_Mutation	SNP	ENST00000282878.4	hg19	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631140	0.96682	.	.	ENSG00000152932	ENST00000282878	T	0.80304	-1.36	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000018	D	0.93154	0.7820	H	0.94345	3.525	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.93783	0.7085	10	0.87932	D	0	-22.0607	20.8598	0.99761	0.0:0.0:1.0:0.0	.	151	Q96E17	RAB3C_HUMAN	L	151	ENSP00000282878:R151L	ENSP00000282878:R151L	R	+	2	0	RAB3C	58156702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	CGG	.	.		0.363	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
SLC25A48	153328	hgsc.bcm.edu	37	5	135188296	135188296	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:135188296T>A	ENST00000420621.1	+	4	379	c.207T>A	c.(205-207)atT>atA	p.I69I	SLC25A48_ENST00000412661.2_Silent_p.I69I|SLC25A48_ENST00000274513.5_Silent_p.I69I|SLC25A48_ENST00000433282.2_Silent_p.I15I|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCGCCAGCATTGCCGTCTACA	0.632																																					p.I69I		Atlas-SNP	.											.	SLC25A48	37	.	0			c.T207A						.						132.0	141.0	138.0					5																	135188296		2039	4200	6239	SO:0001819	synonymous_variant	153328	exon4			CAGCATTGCCGTC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.207T>A	chr5.hg19:g.135188296T>A		72.0	0.0		81.0	30.0	NM_145282	Q8TAV9	Silent	SNP	ENST00000420621.1	hg19																																																																																				.	.		0.632	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282	
PCDHGB1	56104	hgsc.bcm.edu	37	5	140730033	140730033	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:140730033A>T	ENST00000523390.1	+	1	206	c.206A>T	c.(205-207)gAg>gTg	p.E69V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	69	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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGTGCAGAGGATTATTTC	0.512											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E69V		Atlas-SNP	.											.	PCDHGB1	198	.	0			c.A206T						.						92.0	90.0	91.0					5																	140730033		1874	4098	5972	SO:0001583	missense	56104	exon1			GTGCAGAGGATTA	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.206A>T	chr5.hg19:g.140730033A>T	ENSP00000429273:p.Glu69Val	156.0	0.0	1658	125.0	58.0	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	17.15	3.316617	0.60524	.	.	ENSG00000254221	ENST00000523390	T	0.39406	1.08	5.52	5.52	0.82312	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60379	0.2264	L	0.56340	1.77	0.26105	N	0.980769	D;D	0.69078	0.997;0.972	D;P	0.71184	0.972;0.824	T	0.55579	-0.8119	9	0.59425	D	0.04	.	15.6173	0.76778	1.0:0.0:0.0:0.0	.	69;69	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	69	ENSP00000429273:E69V	ENSP00000429273:E69V	E	+	2	0	PCDHGB1	140710217	0.052000	0.20516	0.968000	0.41197	0.987000	0.75469	3.049000	0.49869	2.225000	0.72522	0.460000	0.39030	GAG	.	.		0.512	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
ARAP3	64411	hgsc.bcm.edu	37	5	141038013	141038013	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:141038013T>A	ENST00000239440.4	-	25	3510	c.3445A>T	c.(3445-3447)Aac>Tac	p.N1149Y	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.N811Y|ARAP3_ENST00000508305.1_Missense_Mutation_p.N980Y	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1149	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTACCTGGTTAGTCAGCTCC	0.577																																					p.N1149Y		Atlas-SNP	.											.	ARAP3	139	.	0			c.A3445T						.						137.0	106.0	116.0					5																	141038013		2203	4300	6503	SO:0001583	missense	64411	exon25			CCTGGTTAGTCAG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3445A>T	chr5.hg19:g.141038013T>A	ENSP00000239440:p.Asn1149Tyr	124.0	0.0		104.0	44.0	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902169	0.72754	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.75050	-0.9;-0.9;-0.9	5.97	5.97	0.96955	Ras-association (2);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.71581	2.175	0.58432	D	0.999991	D;D;D	0.89917	0.983;1.0;1.0	D;D;D	0.97110	0.937;0.998;1.0	T	0.79232	-0.1888	10	0.05525	T	0.97	.	14.6802	0.69012	0.0:0.0:0.0:1.0	.	811;980;1149	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Y	980;1149;811	ENSP00000421826:N980Y;ENSP00000239440:N1149Y;ENSP00000421468:N811Y	ENSP00000239440:N1149Y	N	-	1	0	ARAP3	141018197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.165000	0.77544	2.288000	0.76882	0.533000	0.62120	AAC	.	.		0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
HMMR	3161	hgsc.bcm.edu	37	5	162917465	162917465	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:162917465A>T	ENST00000358715.3	+	17	2065	c.2029A>T	c.(2029-2031)Aat>Tat	p.N677Y	HMMR_ENST00000393915.4_Missense_Mutation_p.N678Y|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.N591Y|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.N662Y			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	677					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AGAGGAATTGAATAAAGTTCT	0.328																																					p.N678Y		Atlas-SNP	.											.	HMMR	64	.	0			c.A2032T						.						66.0	72.0	70.0					5																	162917465		2203	4299	6502	SO:0001583	missense	3161	exon17			GAATTGAATAAAG	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2029A>T	chr5.hg19:g.162917465A>T	ENSP00000351554:p.Asn677Tyr	446.0	0.0		379.0	155.0	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	hg19	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913293	0.33815	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	5.97	3.6	0.41247	.	0.233245	0.49916	D	0.000134	T	0.15998	0.0385	L	0.47716	1.5	0.25786	N	0.984678	B;D;B;B	0.67145	0.091;0.996;0.218;0.218	B;D;B;B	0.65874	0.039;0.939;0.055;0.055	T	0.06023	-1.0850	10	0.41790	T	0.15	-18.2886	5.6777	0.17757	0.7221:0.0:0.1445:0.1334	.	591;678;662;677	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	Y	563;662;678;654;591;677	ENSP00000400527:N563Y;ENSP00000185942:N662Y;ENSP00000377492:N678Y;ENSP00000402673:N591Y;ENSP00000351554:N677Y	ENSP00000185942:N662Y	N	+	1	0	HMMR	162850043	0.888000	0.30383	1.000000	0.80357	0.973000	0.67179	0.554000	0.23407	0.519000	0.28406	0.528000	0.53228	AAT	.	.		0.328	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
ADAMTS2	9509	hgsc.bcm.edu	37	5	178553054	178553054	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr5:178553054A>T	ENST00000251582.7	-	18	2796	c.2695T>A	c.(2695-2697)Tcg>Acg	p.S899T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	899	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGGGCTTCGAGAGGGCGGCA	0.642																																					p.S899T		Atlas-SNP	.											.	ADAMTS2	190	.	0			c.T2695A						.						82.0	81.0	81.0					5																	178553054		2203	4300	6503	SO:0001583	missense	9509	exon18			GCTTCGAGAGGGC	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2695T>A	chr5.hg19:g.178553054A>T	ENSP00000251582:p.Ser899Thr	60.0	0.0		32.0	11.0	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	hg19	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	4.793	0.147376	0.09134	.	.	ENSG00000087116	ENST00000251582	T	0.52295	0.67	4.8	-4.0	0.04057	.	1.987270	0.02787	N	0.121612	T	0.20210	0.0486	N	0.04787	-0.16	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.07443	-1.0772	10	0.12103	T	0.63	.	1.7135	0.02896	0.2127:0.161:0.3918:0.2345	.	899	O95450	ATS2_HUMAN	T	899	ENSP00000251582:S899T	ENSP00000251582:S899T	S	-	1	0	ADAMTS2	178485660	0.002000	0.14202	0.000000	0.03702	0.201000	0.24016	-0.040000	0.12104	-0.825000	0.04290	-0.648000	0.03929	TCG	.	.		0.642	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
CDYL	9425	hgsc.bcm.edu	37	6	4937882	4937882	+	Silent	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:4937882C>G	ENST00000328908.5	+	6	1325	c.1194C>G	c.(1192-1194)gtC>gtG	p.V398V	CDYL_ENST00000449732.2_Silent_p.V212V|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000343762.5_Silent_p.V212V|CDYL_ENST00000397588.3_Silent_p.V344V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	398					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTGGCAGCGTCTTCTGTTGTG	0.468																																					p.V344V		Atlas-SNP	.											.	CDYL	74	.	0			c.C1032G						.						98.0	94.0	95.0					6																	4937882		2203	4300	6503	SO:0001819	synonymous_variant	9425	exon4			CAGCGTCTTCTGT	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1194C>G	chr6.hg19:g.4937882C>G		153.0	0.0		214.0	128.0	NM_004824	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	hg19																																																																																				.	.		0.468	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
RPP40	10799	hgsc.bcm.edu	37	6	4996253	4996253	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:4996253T>A	ENST00000380051.2	-	7	869	c.825A>T	c.(823-825)aaA>aaT	p.K275N	RPP40_ENST00000319533.5_Missense_Mutation_p.K252N|RPP40_ENST00000464646.1_Missense_Mutation_p.K215N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	275					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACAAATAAGCTTTTGCCACCA	0.383																																					p.K275N		Atlas-SNP	.											.	RPP40	36	.	0			c.A825T						.						92.0	93.0	93.0					6																	4996253		2203	4300	6503	SO:0001583	missense	10799	exon7			ATAAGCTTTTGCC	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.825A>T	chr6.hg19:g.4996253T>A	ENSP00000369391:p.Lys275Asn	154.0	0.0		214.0	52.0	NM_006638	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	hg19	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749992	0.30955	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.42900	0.96;0.96;0.96	5.16	-1.38	0.09027	.	0.649635	0.16882	N	0.195646	T	0.11537	0.0281	L	0.46157	1.445	0.21604	N	0.999629	P;B	0.35272	0.493;0.408	B;B	0.37833	0.167;0.259	T	0.24368	-1.0162	10	0.21014	T	0.42	-5.7164	1.6421	0.02754	0.1346:0.308:0.1393:0.4181	.	252;275	O75818-2;O75818	.;RPP40_HUMAN	N	275;252;215	ENSP00000369391:K275N;ENSP00000317998:K252N;ENSP00000419431:K215N	ENSP00000317998:K252N	K	-	3	2	RPP40	4941252	0.046000	0.20272	0.005000	0.12908	0.812000	0.45895	0.069000	0.14552	-0.238000	0.09724	-0.313000	0.08912	AAA	.	.		0.383	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	
PHACTR1	221692	hgsc.bcm.edu	37	6	13053698	13053698	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:13053698A>T	ENST00000379350.1	+	4	481	c.352A>T	c.(352-354)Agg>Tgg	p.R118W	PHACTR1_ENST00000332995.7_Missense_Mutation_p.R118W|PHACTR1_ENST00000457702.2_De_novo_Start_InFrame|PHACTR1_ENST00000379345.2_De_novo_Start_InFrame|PHACTR1_ENST00000482982.1_3'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	118					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAACCTGGGAAGGATTTTCAA	0.502																																					p.R118W		Atlas-SNP	.											.	PHACTR1	94	.	0			c.A352T						.						50.0	49.0	50.0					6																	13053698		1939	4143	6082	SO:0001583	missense	221692	exon5			CTGGGAAGGATTT	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.352A>T	chr6.hg19:g.13053698A>T	ENSP00000368655:p.Arg118Trp	180.0	0.0		236.0	67.0	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.505195|4.505195	0.85282|0.85282	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000406205|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000434977	.|T;T	.|0.49720	.|0.77;0.84	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.108141	.|0.64402	.|D	.|0.000016	T|T	0.54791|0.54791	0.1880|0.1880	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.81914	.|0.993;0.99;0.995	T|T	0.60188|0.60188	-0.7312|-0.7312	5|10	.|0.87932	.|D	.|0	-14.8727|-14.8727	15.4022|15.4022	0.74849|0.74849	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|118;118;118	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	M|W	153|118;118;118;4	.|ENSP00000368655:R118W;ENSP00000329880:R118W	.|ENSP00000329880:R118W	K|R	+|+	2|1	0|2	PHACTR1|PHACTR1	13161684|13161684	0.998000|0.998000	0.40836|0.40836	0.959000|0.959000	0.39883|0.39883	0.996000|0.996000	0.88848|0.88848	3.764000|3.764000	0.55264|0.55264	2.242000|2.242000	0.73789|0.73789	0.496000|0.496000	0.49642|0.49642	AAG|AGG	.	.		0.502	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
NUP153	9972	hgsc.bcm.edu	37	6	17616802	17616802	+	Silent	SNP	C	C	A	rs563893774	byFrequency	TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:17616802C>A	ENST00000262077.2	-	21	4298	c.4299G>T	c.(4297-4299)tcG>tcT	p.S1433S	NUP153_ENST00000537253.1_Silent_p.S1464S|RNU6-190P_ENST00000384154.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1433					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAAGCCCCCCGAGCCTGAAG	0.448																																					p.S1433S		Atlas-SNP	.											.	NUP153	116	.	0			c.G4299T						.						69.0	68.0	68.0					6																	17616802		2203	4300	6503	SO:0001819	synonymous_variant	9972	exon21			GCCCCCCGAGCCT	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4299G>T	chr6.hg19:g.17616802C>A		111.0	0.0		94.0	34.0	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	hg19	CCDS4541.1																																																																																			.	.		0.448	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
PPP1R11	6992	hgsc.bcm.edu	37	6	30035217	30035217	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:30035217G>T	ENST00000376772.3	+	1	353	c.30G>T	c.(28-30)gaG>gaT	p.E10D	PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376758.1_5'Flank|PPP1R11_ENST00000376765.2_5'Flank	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	10						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GGCTGAGCGAGACCGTCACTG	0.632																																					p.E10D	Pancreas(185;1767 3918 43793)	Atlas-SNP	.											.	PPP1R11	10	.	0			c.G30T						.						57.0	55.0	56.0					6																	30035217		2203	4300	6503	SO:0001583	missense	6992	exon1			GAGCGAGACCGTC	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.30G>T	chr6.hg19:g.30035217G>T	ENSP00000365963:p.Glu10Asp	235.0	0.0		182.0	85.0	NM_021959		Missense_Mutation	SNP	ENST00000376772.3	hg19	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580058	0.65992	.	.	ENSG00000204619	ENST00000376772	.	.	.	5.15	4.28	0.50868	.	0.115123	0.64402	D	0.000020	T	0.17789	0.0427	L	0.27053	0.805	0.80722	D	1	P	0.34662	0.462	B	0.27887	0.084	T	0.05937	-1.0855	9	0.24483	T	0.36	-0.2413	9.3427	0.38089	0.0964:0.0:0.9036:0.0	.	10	O60927	PP1RB_HUMAN	D	10	.	ENSP00000365963:E10D	E	+	3	2	PPP1R11	30143196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.622000	0.54217	1.395000	0.46643	0.643000	0.83706	GAG	.	.		0.632	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959	
SFTA2	389376	hgsc.bcm.edu	37	6	30899302	30899302	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:30899302T>C	ENST00000359086.3	-	3	278	c.200A>G	c.(199-201)cAt>cGt	p.H67R	Y_RNA_ENST00000516952.1_RNA	NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	67						extracellular region (GO:0005576)				lung(2)	2						AGATCTTGCATGGTGGAGGGT	0.577																																					p.H67R		Atlas-SNP	.											.	SFTA2	6	.	0			c.A200G						.						116.0	85.0	96.0					6																	30899302		1508	2709	4217	SO:0001583	missense	389376	exon3			CTTGCATGGTGGA	AY102070	CCDS4691.1	6p21.3	2008-08-26	2008-08-26	2008-08-26	ENSG00000196260	ENSG00000196260			18386	protein-coding gene	gene with protein product			"""surfactant associated protein G"""	SFTPG			Standard	NM_205854		Approved		uc003nsf.3	Q6UW10	OTTHUMG00000031183	ENST00000359086.3:c.200A>G	chr6.hg19:g.30899302T>C	ENSP00000351989:p.His67Arg	119.0	0.0		92.0	31.0	NM_205854	A2ABK7|A2ACH1|B7ZCJ7	Missense_Mutation	SNP	ENST00000359086.3	hg19	CCDS4691.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240857	0.39598	.	.	ENSG00000196260	ENST00000359086	T	0.46819	0.86	4.45	-1.22	0.09494	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.29119	-1.0022	8	0.56958	D	0.05	.	3.3092	0.07011	0.1764:0.3166:0.0:0.507	.	67	Q6UW10	SFTA2_HUMAN	R	67	ENSP00000351989:H67R	ENSP00000351989:H67R	H	-	2	0	SFTA2	31007281	0.006000	0.16342	0.014000	0.15608	0.634000	0.38068	-0.187000	0.09656	0.140000	0.18849	0.383000	0.25322	CAT	.	.		0.577	SFTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076360.2	NM_205854	
DNAH8	1769	hgsc.bcm.edu	37	6	38697676	38697676	+	Intron	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:38697676A>T	ENST00000359357.3	+	3	213				DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTATTTAACAGCTGGAAGCA	0.313																																					.		Atlas-SNP	.											.	DNAH8	1239	.	0			c.526-2A>T						.						18.0	19.0	18.0					6																	38697676		875	1989	2864	SO:0001627	intron_variant	1769	exon4			TTTAACAGCTGGA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-41-4574A>T	chr6.hg19:g.38697676A>T		130.0	0.0		93.0	43.0	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	20.0	3.930936	0.73327	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5246	0.67878	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38805654	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.958000	0.70330	2.166000	0.68216	0.533000	0.62120	.	.	.		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
LCA5	167691	hgsc.bcm.edu	37	6	80196733	80196733	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:80196733T>A	ENST00000392959.1	-	9	2693	c.2082A>T	c.(2080-2082)gtA>gtT	p.V694V	LCA5_ENST00000369846.4_Silent_p.V694V	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	694					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ATCTCAGTGCTACTTCTTCAA	0.289																																					p.V694V		Atlas-SNP	.											.	LCA5	71	.	0			c.A2082T						.						41.0	45.0	43.0					6																	80196733		2203	4298	6501	SO:0001819	synonymous_variant	167691	exon8			CAGTGCTACTTCT		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.2082A>T	chr6.hg19:g.80196733T>A		52.0	0.0		68.0	28.0	NM_001122769	E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	hg19	CCDS4990.1																																																																																			.	.		0.289	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
BEND3	57673	hgsc.bcm.edu	37	6	107390113	107390113	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:107390113T>A	ENST00000369042.1	-	4	2472	c.2282A>T	c.(2281-2283)tAc>tTc	p.Y761F	BEND3_ENST00000429433.2_Missense_Mutation_p.Y761F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	761	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGAATGGTTGTACTGCAGCCG	0.632																																					p.Y761F		Atlas-SNP	.											.	BEND3	70	.	0			c.A2282T						.						50.0	52.0	51.0					6																	107390113		2203	4300	6503	SO:0001583	missense	57673	exon5			TGGTTGTACTGCA	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2282A>T	chr6.hg19:g.107390113T>A	ENSP00000358038:p.Tyr761Phe	168.0	0.0		103.0	43.0	NM_001080450	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	hg19	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078890	0.55753	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.49139	0.79;0.79	5.32	4.13	0.48395	BEN domain (2);	0.302382	0.32386	N	0.006165	T	0.27832	0.0685	N	0.20685	0.6	0.48236	D	0.999619	P	0.43662	0.814	P	0.49477	0.612	T	0.08700	-1.0709	10	0.41790	T	0.15	-0.007	12.2563	0.54625	0.0:0.0:0.1424:0.8576	.	761	Q5T5X7	BEND3_HUMAN	F	761	ENSP00000358038:Y761F;ENSP00000411268:Y761F	ENSP00000358038:Y761F	Y	-	2	0	BEND3	107496806	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.649000	0.83500	0.825000	0.34637	0.374000	0.22700	TAC	.	.		0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
TAAR1	134864	hgsc.bcm.edu	37	6	132966654	132966654	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr6:132966654T>A	ENST00000275216.1	-	1	488	c.489A>T	c.(487-489)ctA>ctT	p.L163L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	163					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	CTTTGAAGTTTAGCTCCAGAA	0.383																																					p.L163L		Atlas-SNP	.											.	TAAR1	41	.	0			c.A489T						.						65.0	68.0	67.0					6																	132966654		2202	4299	6501	SO:0001819	synonymous_variant	134864	exon1			GAAGTTTAGCTCC	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.489A>T	chr6.hg19:g.132966654T>A		111.0	0.0		110.0	49.0	NM_138327	Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	hg19	CCDS5158.1																																																																																			.	.		0.383	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
MAD1L1	8379	hgsc.bcm.edu	37	7	2020106	2020106	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:2020106T>A	ENST00000406869.1	-	15	2044	c.1487A>T	c.(1486-1488)gAg>gTg	p.E496V	MAD1L1_ENST00000402746.1_Missense_Mutation_p.E404V|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E496V|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E496V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	496	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTCCGCCTCCTCCCTGGAGAA	0.617																																					p.E496V		Atlas-SNP	.											.	MAD1L1	81	.	0			c.A1487T						.						31.0	34.0	33.0					7																	2020106		2024	4165	6189	SO:0001583	missense	8379	exon15			GCCTCCTCCCTGG	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1487A>T	chr7.hg19:g.2020106T>A	ENSP00000385334:p.Glu496Val	62.0	0.0		66.0	25.0	NM_003550	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	hg19	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326960	0.41197	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.09	5.09	0.68999	.	0.048976	0.85682	D	0.000000	T	0.57286	0.2043	M	0.66939	2.045	0.46542	D	0.999093	D;D;D	0.89917	1.0;0.996;0.995	D;D;P	0.71414	0.973;0.93;0.904	T	0.59815	-0.7383	10	0.54805	T	0.06	-34.8095	7.57	0.27902	0.0:0.0963:0.0:0.9037	.	495;404;496	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	V	404;496;496;47;496;47;163	ENSP00000384155:E404V;ENSP00000382562:E496V;ENSP00000385334:E496V;ENSP00000265854:E496V;ENSP00000394886:E47V;ENSP00000414877:E163V	ENSP00000265854:E496V	E	-	2	0	MAD1L1	1986632	1.000000	0.71417	0.994000	0.49952	0.140000	0.21249	2.512000	0.45485	1.918000	0.55548	0.533000	0.62120	GAG	.	.		0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
AQP1	358	hgsc.bcm.edu	37	7	30961780	30961780	+	Missense_Mutation	SNP	C	C	T	rs546847577		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:30961780C>T	ENST00000311813.4	+	2	539	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	AQP1_ENST00000409899.1_Missense_Mutation_p.R47C|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.R222C|AQP1_ENST00000441328.2_Missense_Mutation_p.R79C|AQP1_ENST00000509504.1_Missense_Mutation_p.R339C|AQP1_ENST00000409611.1_Missense_Mutation_p.R111C	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	162	Poly-Arg.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCGGAGGCGCCGTGACCTTGG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14392	0.0		0.0	False		,,,				2504	0.001				p.R162C		Atlas-SNP	.											.	AQP1	38	.	0			c.C484T						.						69.0	62.0	65.0					7																	30961780		2203	4300	6503	SO:0001583	missense	358	exon2			AGGCGCCGTGACC	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.484C>T	chr7.hg19:g.30961780C>T	ENSP00000311165:p.Arg162Cys	41.0	0.0		59.0	30.0	NM_198098	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	hg19	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413597	0.62511	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.45	3.53	0.40419	Aquaporin-like (2);	0.281854	0.41605	D	0.000853	D	0.94647	0.8274	M	0.79011	2.435	0.58432	D	0.999999	D;D;B;D	0.89917	1.0;0.999;0.097;0.997	P;P;B;P	0.60068	0.868;0.825;0.051;0.526	D	0.93508	0.6850	10	0.59425	D	0.04	5.1726	5.7696	0.18245	0.3066:0.6014:0.0:0.092	.	222;111;47;162	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	C	222;67;162;147;79;47;111;339	ENSP00000395059:R222C;ENSP00000311165:R162C;ENSP00000405698:R79C;ENSP00000386712:R47C;ENSP00000387178:R111C;ENSP00000421315:R339C	ENSP00000265298:R67C	R	+	1	0	RP5-877J2.1;AQP1	30928305	0.025000	0.19082	0.987000	0.45799	0.485000	0.33311	1.438000	0.35002	1.309000	0.44985	0.561000	0.74099	CGT	.	.		0.662	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385	
CACNA2D1	781	hgsc.bcm.edu	37	7	81589122	81589122	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:81589122A>T	ENST00000356253.5	-	37	3281	c.3026T>A	c.(3025-3027)aTg>aAg	p.M1009K	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.M209K|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.M997K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1009					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTTGGTGTTCATAAGCTTTTC	0.343																																					p.M997K		Atlas-SNP	.											.	CACNA2D1	191	.	0			c.T2990A						.						84.0	76.0	78.0					7																	81589122		2203	4300	6503	SO:0001583	missense	781	exon37			GTGTTCATAAGCT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3026T>A	chr7.hg19:g.81589122A>T	ENSP00000348589:p.Met1009Lys	59.0	0.0		54.0	22.0	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	hg19		.	.	.	.	.	.	.	.	.	.	A	11.75	1.732247	0.30684	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.50548	0.74;0.74;0.74	5.46	5.46	0.80206	.	0.157946	0.56097	D	0.000025	T	0.38188	0.1031	L	0.44542	1.39	0.29956	N	0.819778	B;B	0.32010	0.351;0.002	B;B	0.32465	0.146;0.012	T	0.42766	-0.9432	10	0.38643	T	0.18	-20.2195	8.2288	0.31587	0.8805:0.0:0.1195:0.0	.	209;997	B7Z658;P54289-2	.;.	K	997;1016;1009;209	ENSP00000349320:M997K;ENSP00000348589:M1009K;ENSP00000443124:M209K	ENSP00000284088:M1016K	M	-	2	0	CACNA2D1	81427058	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.868000	0.63021	2.067000	0.61834	0.528000	0.53228	ATG	.	.		0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
SAMD9	54809	hgsc.bcm.edu	37	7	92734072	92734072	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:92734072T>C	ENST00000379958.2	-	3	1608	c.1339A>G	c.(1339-1341)Aac>Gac	p.N447D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	447						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCATTGATGTTAGACTCAGGA	0.373																																					p.N447D		Atlas-SNP	.											.	SAMD9	239	.	0			c.A1339G						.						49.0	47.0	48.0					7																	92734072		2203	4300	6503	SO:0001583	missense	54809	exon2			TGATGTTAGACTC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1339A>G	chr7.hg19:g.92734072T>C	ENSP00000369292:p.Asn447Asp	87.0	0.0		72.0	31.0	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.535544	0.00942	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13538	2.58;2.58	4.38	1.32	0.21799	.	2.427720	0.02851	N	0.129091	T	0.07234	0.0183	N	0.08118	0	0.19300	N	0.999976	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.12103	T	0.63	2.5682	6.1562	0.20338	0.1505:0.6686:0.0:0.1809	.	447	Q5K651	SAMD9_HUMAN	D	447	ENSP00000369292:N447D;ENSP00000414529:N447D	ENSP00000369292:N447D	N	-	1	0	SAMD9	92572008	0.000000	0.05858	0.414000	0.26521	0.141000	0.21300	0.742000	0.26216	0.594000	0.29761	-0.237000	0.12165	AAC	.	.		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
STAG3	10734	hgsc.bcm.edu	37	7	99798553	99798553	+	Silent	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:99798553G>C	ENST00000426455.1	+	19	2429	c.2022G>C	c.(2020-2022)ctG>ctC	p.L674L	STAG3_ENST00000394018.2_Silent_p.L616L|STAG3_ENST00000317296.5_Silent_p.L674L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	674					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGATTTGCTGACTGACCGCT	0.587																																					p.L674L		Atlas-SNP	.											.	STAG3	121	.	0			c.G2022C						.						43.0	40.0	41.0					7																	99798553		2203	4300	6503	SO:0001819	synonymous_variant	10734	exon19			TTTGCTGACTGAC	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2022G>C	chr7.hg19:g.99798553G>C		146.0	0.0		138.0	24.0	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	hg19	CCDS34703.1																																																																																			.	.		0.587	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
MET	4233	hgsc.bcm.edu	37	7	116423438	116423438	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:116423438A>T	ENST00000318493.6	+	19	3954	c.3767A>T	c.(3766-3768)cAc>cTc	p.H1256L	MET_ENST00000539704.1_Missense_Mutation_p.H108L|MET_ENST00000397752.3_Missense_Mutation_p.H1238L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TATAGTGTACACAACAAAACA	0.388			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.H1256L		Atlas-SNP	.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	MET	412	.	0			c.A3767T						.						97.0	94.0	95.0					7																	116423438		1869	4100	5969	SO:0001583	missense	4233	exon19	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	GTGTACACAACAA	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3767A>T	chr7.hg19:g.116423438A>T	ENSP00000317272:p.His1256Leu	128.0	0.0		139.0	58.0	NM_001127500	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309531	0.60414	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	N	0.17723	0.515	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.77004	0.923;0.989	D	0.85197	0.1013	10	0.40728	T	0.16	.	15.824	0.78683	1.0:0.0:0.0:0.0	.	1256;1238	P08581-2;P08581	.;MET_HUMAN	L	1238;1256;108	ENSP00000380860:H1238L;ENSP00000317272:H1256L;ENSP00000445020:H108L	ENSP00000317272:H1256L	H	+	2	0	MET	116210674	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.287000	0.95975	2.197000	0.70478	0.460000	0.39030	CAC	.	.		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
LEP	3952	hgsc.bcm.edu	37	7	127894673	127894673	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:127894673T>A	ENST00000308868.4	+	3	412	c.361T>A	c.(361-363)Tgg>Agg	p.W121R		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	121					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CCACTTGCCCTGGGCCAGTGG	0.592																																					p.W121R		Atlas-SNP	.											.	LEP	17	.	0			c.T361A						.						53.0	53.0	53.0					7																	127894673		2203	4300	6503	SO:0001583	missense	3952	exon3			TTGCCCTGGGCCA		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.361T>A	chr7.hg19:g.127894673T>A	ENSP00000312652:p.Trp121Arg	77.0	0.0		50.0	27.0	NM_000230	O15158|Q56A88	Missense_Mutation	SNP	ENST00000308868.4	hg19	CCDS5800.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.802444	0.00611	.	.	ENSG00000174697	ENST00000308868	T	0.60920	0.15	5.76	-0.77	0.11005	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.927150	0.02354	N	0.076215	T	0.21227	0.0511	N	0.00960	-1.095	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30090	-0.9990	10	0.07030	T	0.85	-13.3965	0.5856	0.00719	0.2844:0.3457:0.1353:0.2346	.	121;121	A4D0Y8;P41159	.;LEP_HUMAN	R	121	ENSP00000312652:W121R	ENSP00000312652:W121R	W	+	1	0	LEP	127681909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.110000	0.15437	0.014000	0.14944	-0.250000	0.11733	TGG	.	.		0.592	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1		
SSPO	23145	hgsc.bcm.edu	37	7	149488699	149488699	+	RNA	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr7:149488699G>T	ENST00000378016.2	+	0	5150							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGGGCCGGAGCCGCCGC	0.731																																					p.R1717L		Atlas-SNP	.											.	.	.	.	0			c.G5150T						.						3.0	5.0	4.0					7																	149488699		1622	3649	5271			23145	exon34			AGGGCCGGAGCCG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149488699G>T		64.0	0.0		52.0	27.0	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																				.	.		0.731	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
ADRB3	155	hgsc.bcm.edu	37	8	37821737	37821737	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:37821737T>A	ENST00000345060.3	-	2	1721	c.1226A>T	c.(1225-1227)tAg>tTg	p.*409L	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	CCTTCAGGCCTAAGAAACTCC	0.502																																					p.X409L		Atlas-SNP	.											.	ADRB3	27	.	0			c.A1226T						.						73.0	73.0	73.0					8																	37821737		2203	4300	6503	SO:0001578	stop_lost	155	exon2			CAGGCCTAAGAAA	AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.1226A>T	chr8.hg19:g.37821737T>A		128.0	0.0		58.0	45.0	NM_000025	Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	hg19	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673404	0.29693	.	.	ENSG00000188778	ENST00000345060	.	.	.	3.43	2.22	0.28083	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9253	0.24412	0.0:0.0:0.2343:0.7657	.	.	.	.	L	409	.	.	X	-	2	0	ADRB3	37940894	0.004000	0.15560	0.009000	0.14445	0.930000	0.56654	0.360000	0.20250	0.656000	0.30886	0.482000	0.46254	TAG	.	.		0.502	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025	
CHRNB3	1142	hgsc.bcm.edu	37	8	42587110	42587110	+	Silent	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:42587110T>C	ENST00000289957.2	+	5	788	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	220					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TGTACTCCTATCCCTTTATCA	0.473																																					p.Y220Y		Atlas-SNP	.											.	CHRNB3	74	.	0			c.T660C						.						104.0	106.0	105.0					8																	42587110		2203	4300	6503	SO:0001819	synonymous_variant	1142	exon5			CTCCTATCCCTTT	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.660T>C	chr8.hg19:g.42587110T>C		102.0	0.0		84.0	38.0	NM_000749	Q15827	Silent	SNP	ENST00000289957.2	hg19	CCDS6134.1																																																																																			.	.		0.473	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
XKR4	114786	hgsc.bcm.edu	37	8	56436483	56436483	+	Silent	SNP	C	C	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:56436483C>A	ENST00000327381.6	+	3	1750	c.1650C>A	c.(1648-1650)tcC>tcA	p.S550S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	550						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTCCATCTCCAACAACCGCA	0.592																																					p.S550S		Atlas-SNP	.											.	XKR4	104	.	0			c.C1650A						.						66.0	67.0	67.0					8																	56436483		2203	4300	6503	SO:0001819	synonymous_variant	114786	exon3			CATCTCCAACAAC	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1650C>A	chr8.hg19:g.56436483C>A		99.0	0.0		77.0	35.0	NM_052898	Q96PZ8	Silent	SNP	ENST00000327381.6	hg19	CCDS34893.1																																																																																			.	.		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
ADHFE1	137872	hgsc.bcm.edu	37	8	67356642	67356642	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:67356642A>T	ENST00000396623.3	+	4	216	c.185A>T	c.(184-186)aAg>aTg	p.K62M	ADHFE1_ENST00000415254.1_Missense_Mutation_p.K14M|ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000379385.4_Missense_Mutation_p.K62M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	62					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCAGTTACAAAGGAAGTAGGA	0.378																																					p.K62M		Atlas-SNP	.											.	ADHFE1	83	.	0			c.A185T						.						100.0	98.0	99.0					8																	67356642		2203	4300	6503	SO:0001583	missense	137872	exon4			TTACAAAGGAAGT	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.185A>T	chr8.hg19:g.67356642A>T	ENSP00000379865:p.Lys62Met	175.0	0.0		213.0	50.0	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	hg19	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972577	0.74246	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.46451	0.87;0.87;0.87	5.79	5.79	0.91817	Alcohol dehydrogenase, iron-type (1);	0.131924	0.64402	D	0.000002	T	0.64832	0.2634	M	0.79614	2.46	0.38529	D	0.948937	P	0.48834	0.916	P	0.61874	0.895	T	0.70310	-0.4907	10	0.62326	D	0.03	-11.3699	16.4237	0.83790	1.0:0.0:0.0:0.0	.	62	Q8IWW8	HOT_HUMAN	M	62;62;14	ENSP00000368695:K62M;ENSP00000379865:K62M;ENSP00000407115:K14M	ENSP00000368695:K62M	K	+	2	0	ADHFE1	67519196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.519000	0.53458	2.338000	0.79540	0.533000	0.62120	AAG	.	.		0.378	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
EYA1	2138	hgsc.bcm.edu	37	8	72129021	72129021	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:72129021A>T	ENST00000340726.3	-	14	1905	c.1266T>A	c.(1264-1266)acT>acA	p.T422T	EYA1_ENST00000388742.4_Silent_p.T422T|EYA1_ENST00000303824.7_Silent_p.T416T|EYA1_ENST00000388743.2_Silent_p.T421T|EYA1_ENST00000388740.3_Silent_p.T389T|EYA1_ENST00000419131.1_Silent_p.T387T|EYA1_ENST00000388741.2_Silent_p.T388T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	422					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCCGTACACCAGTTGCCAAAC	0.453																																					p.T422T		Atlas-SNP	.											.	EYA1	108	.	0			c.T1266A						.						146.0	132.0	137.0					8																	72129021		2203	4300	6503	SO:0001819	synonymous_variant	2138	exon14			TACACCAGTTGCC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1266T>A	chr8.hg19:g.72129021A>T		164.0	0.0		210.0	62.0	NM_000503	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	hg19	CCDS34906.1																																																																																			.	.		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
FER1L6	654463	hgsc.bcm.edu	37	8	125107154	125107154	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:125107154T>C	ENST00000522917.1	+	35	4776	c.4570T>C	c.(4570-4572)Tat>Cat	p.Y1524H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.Y1524H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1524						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGTGGAGTCTTATGAACACCT	0.483																																					p.Y1524H		Atlas-SNP	.											.	FER1L6	268	.	0			c.T4570C						.						97.0	90.0	92.0					8																	125107154		1899	4123	6022	SO:0001583	missense	654463	exon35			GAGTCTTATGAAC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4570T>C	chr8.hg19:g.125107154T>C	ENSP00000428280:p.Tyr1524His	147.0	0.0		101.0	39.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274150	0.40194	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.61040	0.14;0.14	5.52	4.37	0.52481	.	0.000000	0.85682	U	0.000000	T	0.63780	0.2540	L	0.37897	1.145	0.40272	D	0.978291	D	0.89917	1.0	D	0.91635	0.999	T	0.59994	-0.7349	10	0.25106	T	0.35	-17.7278	11.3575	0.49623	0.0:0.0709:0.0:0.9291	.	1524	Q2WGJ9	FR1L6_HUMAN	H	1524	ENSP00000428280:Y1524H;ENSP00000381982:Y1524H	ENSP00000381982:Y1524H	Y	+	1	0	FER1L6	125176335	0.822000	0.29219	0.449000	0.26957	0.707000	0.40811	1.162000	0.31786	1.044000	0.40200	0.450000	0.29827	TAT	.	.		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FAM135B	51059	hgsc.bcm.edu	37	8	139323154	139323154	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:139323154C>G	ENST00000395297.1	-	3	257	c.87G>C	c.(85-87)caG>caC	p.Q29H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	29										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACTCGGATCTGGTAATACC	0.478										HNSCC(54;0.14)																											p.Q29H		Atlas-SNP	.											.	FAM135B	423	.	0			c.G87C						.						74.0	71.0	72.0					8																	139323154		1920	4130	6050	SO:0001583	missense	51059	exon3			TCGGATCTGGTAA	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.87G>C	chr8.hg19:g.139323154C>G	ENSP00000378710:p.Gln29His	56.0	0.0		58.0	21.0	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631368	0.46944	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.19938	2.11	5.01	2.16	0.27623	.	0.000000	0.52532	U	0.000072	T	0.15955	0.0384	L	0.46157	1.445	0.35994	D	0.836923	B	0.21821	0.061	B	0.23150	0.044	T	0.09640	-1.0665	10	0.51188	T	0.08	-3.9002	4.493	0.11822	0.0:0.6158:0.1867:0.1975	.	29	Q49AJ0	F135B_HUMAN	H	29	ENSP00000378710:Q29H	ENSP00000160713:Q29H	Q	-	3	2	FAM135B	139392336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.892000	0.28322	0.783000	0.33636	0.591000	0.81541	CAG	.	.		0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
C8orf31	286122	hgsc.bcm.edu	37	8	144126142	144126142	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:144126142A>T	ENST00000395172.1	+	4	615	c.263A>T	c.(262-264)cAg>cTg	p.Q88L	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	88										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GACCCCATCCAGGAAGGGGCA	0.632																																					p.Q88L		Atlas-SNP	.											.	C8orf31	18	.	0			c.A263T						.						77.0	69.0	72.0					8																	144126142		2203	4300	6503	SO:0001583	missense	286122	exon4			CCATCCAGGAAGG		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.263A>T	chr8.hg19:g.144126142A>T	ENSP00000378601:p.Gln88Leu	76.0	0.0		55.0	22.0	NM_173687	Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	hg19	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	a	3.573	-0.087163	0.07097	.	.	ENSG00000177335	ENST00000395172	T	0.52754	0.65	1.77	0.837	0.18896	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.24186	0.099	B	0.17098	0.017	T	0.18713	-1.0328	9	0.87932	D	0	.	3.9384	0.09316	0.2469:0.0:0.7531:0.0	.	88	Q8N9H6	CH031_HUMAN	L	88	ENSP00000378601:Q88L	ENSP00000378601:Q88L	Q	+	2	0	C8orf31	144197517	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.377000	0.20552	0.296000	0.22592	-0.537000	0.04273	CAG	.	.		0.632	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687	
TSTA3	7264	hgsc.bcm.edu	37	8	144696547	144696547	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr8:144696547T>A	ENST00000425753.2	-	6	644	c.541A>T	c.(541-543)Aac>Tac	p.N181Y	TSTA3_ENST00000529064.1_Missense_Mutation_p.N181Y	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	181					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCTCGATGTTGAAGTTGTCG	0.647																																					p.N181Y		Atlas-SNP	.											.	TSTA3	23	.	0			c.A541T						.						142.0	126.0	131.0					8																	144696547		2203	4300	6503	SO:0001583	missense	7264	exon6			CGATGTTGAAGTT	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.541A>T	chr8.hg19:g.144696547T>A	ENSP00000398803:p.Asn181Tyr	97.0	0.0		65.0	25.0	NM_003313	B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	hg19	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211323	0.79240	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.131866	0.64402	D	0.000002	D	0.96534	0.8869	M	0.90145	3.09	0.80722	D	1	B	0.33777	0.425	P	0.50934	0.654	D	0.97081	0.9784	10	0.72032	D	0.01	-28.8401	13.2624	0.60113	0.0:0.0:0.0:1.0	.	181	Q13630	FCL_HUMAN	Y	181	ENSP00000435386:N181Y;ENSP00000398803:N181Y;ENSP00000431587:N181Y;ENSP00000437012:N181Y	ENSP00000398803:N181Y	N	-	1	0	TSTA3	144767690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.203000	0.58453	1.816000	0.52996	0.482000	0.46254	AAC	.	.		0.647	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313	
DOCK8	81704	hgsc.bcm.edu	37	9	439312	439312	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:439312G>T	ENST00000453981.1	+	40	5259	c.5147G>T	c.(5146-5148)gGg>gTg	p.G1716V	DOCK8_ENST00000469391.1_Missense_Mutation_p.G1616V|DOCK8_ENST00000432829.2_Missense_Mutation_p.G1648V|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1183V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1716	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GACGAGGATGGGGTGTGCGCA	0.587																																					p.G1716V		Atlas-SNP	.											.	DOCK8	401	.	0			c.G5147T						.						88.0	81.0	83.0					9																	439312		2203	4300	6503	SO:0001583	missense	81704	exon40			AGGATGGGGTGTG	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5147G>T	chr9.hg19:g.439312G>T	ENSP00000408464:p.Gly1716Val	115.0	0.0		90.0	40.0	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103563	0.76983	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.20332	2.31;2.31;2.3;2.08	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.88906	2.99	0.80722	D	1	D;P;D	0.89917	1.0;0.937;1.0	D;P;D	0.85130	0.997;0.704;0.996	T	0.64322	-0.6435	10	0.87932	D	0	.	18.6173	0.91306	0.0:0.0:1.0:0.0	.	1616;1183;1716	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	V	1716;1684;1648;1616;1183	ENSP00000408464:G1716V;ENSP00000394888:G1648V;ENSP00000419438:G1616V;ENSP00000371766:G1183V	ENSP00000287364:G1684V	G	+	2	0	DOCK8	429312	1.000000	0.71417	0.944000	0.38274	0.519000	0.34347	9.150000	0.94667	2.624000	0.88883	0.655000	0.94253	GGG	.	.		0.587	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
CEP78	84131	hgsc.bcm.edu	37	9	80851282	80851282	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:80851282A>T	ENST00000424347.2	+	1	305	c.16A>T	c.(16-18)Aag>Tag	p.K6*	CEP78_ENST00000376597.4_Nonsense_Mutation_p.K6*|CEP78_ENST00000415759.2_Nonsense_Mutation_p.K6*|CEP78_ENST00000277082.5_Nonsense_Mutation_p.K6*|CEP78_ENST00000376598.2_Nonsense_Mutation_p.K6*			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	6					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CGACTCCGTGAAGCTGCGCCG	0.731																																					p.K6X		Atlas-SNP	.											.	CEP78	79	.	0			c.A16T						.						5.0	6.0	6.0					9																	80851282		1873	4019	5892	SO:0001587	stop_gained	84131	exon1			TCCGTGAAGCTGC	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.16A>T	chr9.hg19:g.80851282A>T	ENSP00000411284:p.Lys6*	55.0	0.0		33.0	17.0	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Nonsense_Mutation	SNP	ENST00000424347.2	hg19		.	.	.	.	.	.	.	.	.	.	a	34	5.319128	0.95682	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	4.95	2.39	0.29439	.	0.162995	0.39687	N	0.001292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8776	9.743	0.40429	0.6657:0.3343:0.0:0.0	.	.	.	.	X	6	.	ENSP00000277082:K6X	K	+	1	0	CEP78	80041102	1.000000	0.71417	0.999000	0.59377	0.307000	0.27823	1.727000	0.38095	0.678000	0.31325	0.524000	0.50904	AAG	.	.		0.731	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
CCDC180	100499483	hgsc.bcm.edu	37	9	100124601	100124601	+	Intron	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:100124601A>T	ENST00000357054.1	+	40	4692				RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.S1304S|CCDC180_ENST00000395220.1_Intron|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S1304S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGTGTGCTCACCTCCTGTCC	0.617																																					p.S1304S		Atlas-SNP	.											.	.	.	.	0			c.A3912T						.						133.0	127.0	129.0					9																	100124601		2203	4300	6503	SO:0001627	intron_variant	0	exon28			GTGCTCACCTCCT	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3758-44A>T	chr9.hg19:g.100124601A>T		101.0	0.0		95.0	57.0	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	hg19																																																																																				.	.		0.617	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
NDUFA8	4702	hgsc.bcm.edu	37	9	124906563	124906563	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:124906563T>A	ENST00000373768.3	-	4	617	c.476A>T	c.(475-477)cAg>cTg	p.Q159L	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	159					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						TGTGGCAGGCTGCAGATCTCC	0.532																																					p.Q159L		Atlas-SNP	.											.	NDUFA8	20	.	0			c.A476T						.						90.0	78.0	82.0					9																	124906563		2203	4300	6503	SO:0001583	missense	4702	exon4			GCAGGCTGCAGAT	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.476A>T	chr9.hg19:g.124906563T>A	ENSP00000362873:p.Gln159Leu	129.0	0.0		105.0	48.0	NM_014222	B1AM93|Q9Y6N0	Missense_Mutation	SNP	ENST00000373768.3	hg19	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437251	0.25900	.	.	ENSG00000119421	ENST00000373768	D	0.82803	-1.65	5.67	5.67	0.87782	.	0.138391	0.64402	D	0.000003	T	0.73552	0.3601	N	0.24115	0.695	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.68588	-0.5369	10	0.38643	T	0.18	-23.6897	13.876	0.63653	0.0:0.0:0.0:1.0	.	159	P51970	NDUA8_HUMAN	L	159	ENSP00000362873:Q159L	ENSP00000362873:Q159L	Q	-	2	0	NDUFA8	123946384	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	7.483000	0.81158	2.163000	0.67991	0.459000	0.35465	CAG	.	.		0.532	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222	
OR1J1	347168	hgsc.bcm.edu	37	9	125240003	125240003	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:125240003A>T	ENST00000259357.2	-	1	232	c.203T>A	c.(202-204)cTc>cAc	p.L68H	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GATGTCAGTGAGGGCCAAGTG	0.507																																					p.L68H		Atlas-SNP	.											.	OR1J1	46	.	0			c.T203A						.						227.0	174.0	192.0					9																	125240003		2203	4300	6503	SO:0001583	missense	347168	exon1			TCAGTGAGGGCCA	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.203T>A	chr9.hg19:g.125240003A>T	ENSP00000259357:p.Leu68His	147.0	0.0		120.0	42.0	NM_001004451	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	hg19	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776677	0.49786	.	.	ENSG00000136834	ENST00000259357	T	0.00532	6.75	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.670270	0.14363	N	0.324301	T	0.02418	0.0074	M	0.89840	3.065	0.23089	N	0.998314	D	0.71674	0.998	D	0.64687	0.928	T	0.24190	-1.0167	10	0.87932	D	0	.	9.6494	0.39888	0.8248:0.1752:0.0:0.0	.	68	Q8NGS3	OR1J1_HUMAN	H	68	ENSP00000259357:L68H	ENSP00000259357:L68H	L	-	2	0	OR1J1	124279824	0.866000	0.29940	0.968000	0.41197	0.666000	0.39218	7.032000	0.76498	1.953000	0.56701	0.327000	0.21459	CTC	.	.		0.507	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1		
EGFL7	51162	hgsc.bcm.edu	37	9	139566450	139566450	+	Missense_Mutation	SNP	G	G	C	rs370929489		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr9:139566450G>C	ENST00000371699.1	+	9	1620	c.709G>C	c.(709-711)Ggc>Cgc	p.G237R	EGFL7_ENST00000406555.3_Missense_Mutation_p.G237R|EGFL7_ENST00000371698.3_Missense_Mutation_p.G237R|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000308874.7_Missense_Mutation_p.G237R			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	237					angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CCCGGACCCCGGCAGCCTCCT	0.672											OREG0019619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G237R		Atlas-SNP	.											.	EGFL7	11	.	0			c.G709C						.						8.0	9.0	8.0					9																	139566450		1977	3880	5857	SO:0001583	missense	51162	exon10			GACCCCGGCAGCC	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.709G>C	chr9.hg19:g.139566450G>C	ENSP00000360764:p.Gly237Arg	74.0	0.0	1649	60.0	29.0	NM_016215	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	hg19	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726797	0.15439	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.15	-2.2	0.06994	.	1.027160	0.07759	N	0.949732	T	0.69061	0.3069	L	0.36672	1.1	0.22112	N	0.999356	P	0.39847	0.691	B	0.31495	0.131	T	0.54609	-0.8268	10	0.20519	T	0.43	-7.2998	9.4632	0.38798	0.7719:0.0:0.2281:0.0	.	237	Q9UHF1	EGFL7_HUMAN	R	237	ENSP00000360764:G237R;ENSP00000307843:G237R;ENSP00000385639:G237R;ENSP00000360763:G237R	ENSP00000307843:G237R	G	+	1	0	EGFL7	138686271	0.158000	0.22850	0.062000	0.19696	0.007000	0.05969	0.431000	0.21444	-0.334000	0.08463	-0.224000	0.12420	GGC	.	.		0.672	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215	
AKR1C1	1645	hgsc.bcm.edu	37	10	5005646	5005646	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr10:5005646A>G	ENST00000380872.4	+	1	202	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	AKR1C1_ENST00000477661.1_3'UTR|U8_ENST00000459095.1_RNA|AKR1C1_ENST00000380859.1_5'Flank|AKR1C1_ENST00000434459.2_Missense_Mutation_p.K4E	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	4					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	AATGGATTCGAAATATCAGTG	0.468																																					p.K4E	Colon(130;2054 2316 13360 15380)	Atlas-SNP	.											.	AKR1C1	39	.	0			c.A10G						.						202.0	176.0	185.0					10																	5005646		2203	4300	6503	SO:0001583	missense	1645	exon1			GATTCGAAATATC	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.10A>G	chr10.hg19:g.5005646A>G	ENSP00000370254:p.Lys4Glu	138.0	0.0		89.0	42.0	NM_001353	P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	hg19	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270324	0.40194	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.27104	1.69;1.69	2.46	2.46	0.29980	.	0.590465	0.15121	N	0.279371	T	0.19046	0.0457	L	0.39898	1.24	0.09310	N	1	B;B;B	0.21381	0.055;0.007;0.004	B;B;B	0.17098	0.017;0.013;0.004	T	0.15093	-1.0449	10	0.49607	T	0.09	.	6.7142	0.23294	1.0:0.0:0.0:0.0	.	4;4;4	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	E	4	ENSP00000412248:K4E;ENSP00000370254:K4E	ENSP00000370254:K4E	K	+	1	0	AKR1C1	4995646	0.045000	0.20229	0.031000	0.17742	0.212000	0.24457	1.049000	0.30392	1.131000	0.42111	0.254000	0.18369	AAA	.	.		0.468	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353	
RASSF4	83937	hgsc.bcm.edu	37	10	45480272	45480272	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr10:45480272G>A	ENST00000340258.5	+	6	498	c.385G>A	c.(385-387)Gag>Aag	p.E129K	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.E138K|RASSF4_ENST00000374417.2_Missense_Mutation_p.G98E	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	294	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCCCTGGAGGAGGCAGAGGA	0.657																																					p.E129K		Atlas-SNP	.											.	RASSF4	33	.	0			c.G385A						.						77.0	91.0	86.0					10																	45480272		2203	4300	6503	SO:0001583	missense	83937	exon6			CTGGAGGAGGCAG	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.385G>A	chr10.hg19:g.45480272G>A	ENSP00000339692:p.Glu129Lys	137.0	0.0		65.0	15.0	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	hg19	CCDS7208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.75|16.75	3.209060|3.209060	0.58343|0.58343	.|.	.|.	ENSG00000107551|ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411|ENST00000374417	T;T|T	0.14766|0.30714	2.48;2.49|1.52	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.866984|.	0.10347|.	N|.	0.685596|.	T|T	0.33294|0.33294	0.0858|0.0858	L|L	0.52573|0.52573	1.65|1.65	0.34110|0.34110	D|D	0.662865|0.662865	B;B;B|.	0.28258|.	0.134;0.205;0.009|.	B;B;B|.	0.22753|.	0.041;0.021;0.004|.	T|T	0.16689|0.16689	-1.0394|-1.0394	10|7	0.12766|0.02654	T|T	0.61|1	-29.5222|-29.5222	15.9221|15.9221	0.79583|0.79583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;220;129|.	Q9H2L5-2;Q59FL4;Q9H2L5|.	.;.;RASF4_HUMAN|.	K|E	138;129;220|98	ENSP00000334543:E138K;ENSP00000339692:E129K|ENSP00000363538:G98E	ENSP00000334543:E138K|ENSP00000363538:G98E	E|G	+|+	1|2	0|0	RASSF4|RASSF4	44800278|44800278	1.000000|1.000000	0.71417|0.71417	0.612000|0.612000	0.29024|0.29024	0.591000|0.591000	0.36615|0.36615	7.248000|7.248000	0.78268|0.78268	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAG|GGA	.	.		0.657	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023	
SLK	9748	hgsc.bcm.edu	37	10	105762701	105762701	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr10:105762701A>T	ENST00000369755.3	+	9	2310	c.1765A>T	c.(1765-1767)Atg>Ttg	p.M589L	SLK_ENST00000335753.4_Missense_Mutation_p.M589L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	589	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAATAAGCCCATGGTGGGTCC	0.393																																					p.M589L	NSCLC(111;540 1651 1927 4474 17706)	Atlas-SNP	.											.	SLK	107	.	0			c.A1765T						.						39.0	42.0	41.0					10																	105762701		2203	4300	6503	SO:0001583	missense	9748	exon9			AAGCCCATGGTGG		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1765A>T	chr10.hg19:g.105762701A>T	ENSP00000358770:p.Met589Leu	110.0	0.0		49.0	34.0	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	hg19	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	2.780	-0.253637	0.05829	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.66815	-0.23;-0.23	5.78	-6.95	0.01628	Protein kinase-like domain (1);	2.135570	0.01677	N	0.025939	T	0.41119	0.1145	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13308	-1.0514	10	0.30854	T	0.27	.	1.6036	0.02679	0.2273:0.2771:0.3112:0.1845	.	589;589	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	L	589	ENSP00000336824:M589L;ENSP00000358770:M589L	ENSP00000336824:M589L	M	+	1	0	SLK	105752691	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.247000	0.18179	-0.778000	0.04566	-0.375000	0.07067	ATG	.	.		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
MUC6	4588	hgsc.bcm.edu	37	11	1013919	1013919	+	Silent	SNP	G	G	T	rs372205312		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:1013919G>T	ENST00000421673.2	-	32	7172	c.7122C>A	c.(7120-7122)ggC>ggA	p.G2374G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2374	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAATGCAGGCGCCCTCACAGC	0.657																																					p.G2374G		Atlas-SNP	.											.	MUC6	408	.	0			c.C7122A						.						24.0	30.0	28.0					11																	1013919		2133	4236	6369	SO:0001819	synonymous_variant	4588	exon32			GCAGGCGCCCTCA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.7122C>A	chr11.hg19:g.1013919G>T		37.0	0.0		45.0	16.0	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	hg19	CCDS44513.1																																																																																			.	.		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
DCHS1	8642	hgsc.bcm.edu	37	11	6651648	6651648	+	Silent	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:6651648G>A	ENST00000299441.3	-	10	4788	c.4377C>T	c.(4375-4377)cgC>cgT	p.R1459R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1459	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTCCGACGCGCGGAAAGTGT	0.746																																					p.R1459R		Atlas-SNP	.											.	DCHS1	277	.	0			c.C4377T						.						1.0	2.0	2.0					11																	6651648		1268	2783	4051	SO:0001819	synonymous_variant	8642	exon10			CGACGCGCGGAAA	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4377C>T	chr11.hg19:g.6651648G>A		1.0	0.0		9.0	7.0	NM_003737	O15098	Silent	SNP	ENST00000299441.3	hg19	CCDS7771.1																																																																																			.	.		0.746	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
CSNK2A3	283106	hgsc.bcm.edu	37	11	11374171	11374171	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:11374171G>A	ENST00000528848.2	-	1	733	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										CTGTGCTCATGATCAATCATG	0.418																																					p.H166Y		Atlas-SNP	.											.	.	.	.	0			c.C496T						.																																			SO:0001583	missense	283106	exon1			GCTCATGATCAAT	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.496C>T	chr11.hg19:g.11374171G>A	ENSP00000473553:p.His166Tyr	84.0	0.0		110.0	33.0	NM_001256686		Missense_Mutation	SNP	ENST00000528848.2	hg19	CCDS59224.1																																																																																			.	.		0.418	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686	
DGKZ	8525	hgsc.bcm.edu	37	11	46394022	46394022	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:46394022A>T	ENST00000454345.1	+	12	1661	c.1536A>T	c.(1534-1536)cgA>cgT	p.R512R	DGKZ_ENST00000532868.2_Silent_p.R328R|DGKZ_ENST00000456247.2_Silent_p.R323R|DGKZ_ENST00000527911.1_Silent_p.R324R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Silent_p.R102R|DGKZ_ENST00000318201.8_Silent_p.R301R|DGKZ_ENST00000343674.6_Silent_p.R340R|DGKZ_ENST00000395574.3_Silent_p.R290R|DGKZ_ENST00000421244.2_Silent_p.R324R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	512	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCAATCCCCGACAAGTCTTCG	0.582																																					p.R512R		Atlas-SNP	.											.	DGKZ	199	.	0			c.A1536T						.						91.0	76.0	81.0					11																	46394022		2202	4298	6500	SO:0001819	synonymous_variant	8525	exon12			TCCCCGACAAGTC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1536A>T	chr11.hg19:g.46394022A>T		115.0	0.0		93.0	26.0	NM_001105540	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	hg19	CCDS41640.1																																																																																			.	.		0.582	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
SLC22A10	387775	hgsc.bcm.edu	37	11	63057748	63057748	+	Silent	SNP	A	A	G	rs537943997		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:63057748A>G	ENST00000332793.6	+	1	113	c.111A>G	c.(109-111)ctA>ctG	p.L37L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_5'Flank|SLC22A10_ENST00000544661.1_Splice_Site	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	37						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATATACTGCTAGAGAACTTTG	0.443																																					p.L37L		Atlas-SNP	.											.	SLC22A10	79	.	0			c.A111G						.						93.0	97.0	95.0					11																	63057748		2156	4291	6447	SO:0001819	synonymous_variant	387775	exon1			ACTGCTAGAGAAC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.111A>G	chr11.hg19:g.63057748A>G		139.0	0.0		121.0	63.0	NM_001039752	Q68CJ0	Silent	SNP	ENST00000332793.6	hg19	CCDS41661.1																																																																																			.	.		0.443	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
NARS2	79731	hgsc.bcm.edu	37	11	78147774	78147774	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:78147774A>G	ENST00000281038.5	-	14	1751	c.1376T>C	c.(1375-1377)gTt>gCt	p.V459A	NARS2_ENST00000528850.1_Missense_Mutation_p.V232A|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	459					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GATATTGTCAACACCCAAGAT	0.448																																					p.V459A		Atlas-SNP	.											.	NARS2	62	.	0			c.T1376C						.						230.0	226.0	228.0					11																	78147774		2200	4292	6492	SO:0001583	missense	79731	exon14			TTGTCAACACCCA	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1376T>C	chr11.hg19:g.78147774A>G	ENSP00000281038:p.Val459Ala	388.0	1.0		316.0	129.0	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	hg19	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051574	0.75960	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	T;T	0.77358	-1.09;-1.09	5.92	5.92	0.95590	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.249658	0.39985	N	0.001201	T	0.75221	0.3820	L	0.48877	1.53	0.80722	D	1	B	0.19817	0.039	B	0.25987	0.065	T	0.72481	-0.4280	10	0.87932	D	0	-5.5204	16.3678	0.83341	1.0:0.0:0.0:0.0	.	459	Q96I59	SYNM_HUMAN	A	459;232	ENSP00000281038:V459A;ENSP00000432635:V232A	ENSP00000281038:V459A	V	-	2	0	NARS2	77825422	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.254000	0.74563	0.528000	0.53228	GTT	.	.		0.448	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
KIAA1731	85459	hgsc.bcm.edu	37	11	93461977	93461977	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:93461977G>A	ENST00000325212.6	+	25	7454	c.7292G>A	c.(7291-7293)tGc>tAc	p.C2431Y	TAF1D_ENST00000546088.1_5'Flank|KIAA1731_ENST00000344196.4_Missense_Mutation_p.C611Y|KIAA1731_ENST00000411936.1_Missense_Mutation_p.C2431Y|KIAA1731_ENST00000531700.1_Missense_Mutation_p.C611Y|SNORA32_ENST00000384072.1_RNA|SNORA25_ENST00000384384.1_RNA|SNORD6_ENST00000365444.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2431						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAGCAAAATGCTTCTTTCAG	0.348																																					p.C2431Y		Atlas-SNP	.											.	KIAA1731	173	.	0			c.G7292A						.						90.0	80.0	83.0					11																	93461977		692	1591	2283	SO:0001583	missense	85459	exon25			CAAAATGCTTCTT	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.7292G>A	chr11.hg19:g.93461977G>A	ENSP00000316681:p.Cys2431Tyr	49.0	0.0		45.0	20.0	NM_033395	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	hg19	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436678	0.12104	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.11277	2.8;2.79	4.63	-2.74	0.05932	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.01;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.37314	-0.9711	9	0.66056	D	0.02	.	5.7089	0.17923	0.3313:0.2443:0.4244:0.0	.	2431;2431;611	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	Y	2431;2431;611;611;443	ENSP00000316681:C2431Y;ENSP00000406505:C2431Y	ENSP00000316681:C2431Y	C	+	2	0	KIAA1731	93101625	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.127000	0.10547	-0.859000	0.04105	-2.454000	0.00207	TGC	.	.		0.348	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1	NM_033395	
ARHGAP42	143872	hgsc.bcm.edu	37	11	100849716	100849716	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:100849716A>T	ENST00000298815.8	+	22	2396		c.e22-1		ARHGAP42_ENST00000524892.2_Splice_Site	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42						signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						ATCATTTTTCAGAGTGGCAGC	0.353																																					.		Atlas-SNP	.											.	ARHGAP42	32	.	0			c.2394-2A>T						.						109.0	105.0	106.0					11																	100849716		692	1591	2283	SO:0001630	splice_region_variant	143872	exon22			TTTTTCAGAGTGG			11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.2394-1A>T	chr11.hg19:g.100849716A>T		66.0	0.0		72.0	26.0	NM_152432	Q96M56	Splice_Site	SNP	ENST00000298815.8	hg19		.	.	.	.	.	.	.	.	.	.	A	21.7	4.188902	0.78789	.	.	ENSG00000165895	ENST00000524892;ENST00000298815	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9822	0.64313	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP42	100354926	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.789000	0.85783	2.043000	0.60533	0.482000	0.46254	.	.	.		0.353	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152432	Intron
SLC35F2	54733	hgsc.bcm.edu	37	11	107682490	107682490	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:107682490C>G	ENST00000525815.1	-	3	737	c.317G>C	c.(316-318)aGa>aCa	p.R106T	SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000375682.4_Missense_Mutation_p.R59T|SLC35F2_ENST00000429869.1_Missense_Mutation_p.R106T|SLC35F2_ENST00000525071.1_Missense_Mutation_p.R106T	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	106					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCACCATTTTCTTTTCAAGAT	0.388																																					p.R106T		Atlas-SNP	.											.	SLC35F2	29	.	0			c.G317C						.						194.0	179.0	184.0					11																	107682490		1859	4093	5952	SO:0001583	missense	54733	exon3			CATTTTCTTTTCA		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.317G>C	chr11.hg19:g.107682490C>G	ENSP00000436785:p.Arg106Thr	116.0	0.0		64.0	18.0	NM_017515	Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	hg19	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	7.806	0.714773	0.15306	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000375682;ENST00000429869	.	.	.	5.32	1.26	0.21427	.	0.498346	0.22814	N	0.055311	T	0.36826	0.0981	N	0.17872	0.535	0.43777	D	0.996306	B;B	0.17038	0.02;0.006	B;B	0.28305	0.088;0.038	T	0.05099	-1.0906	9	0.15952	T	0.53	.	7.0634	0.25139	0.0:0.4223:0.0:0.5777	.	106;106	E9PJD1;Q8IXU6	.;S35F2_HUMAN	T	106;106;59;106	.	ENSP00000364834:R59T	R	-	2	0	SLC35F2	107187700	0.070000	0.21116	0.998000	0.56505	0.953000	0.61014	-0.184000	0.09698	0.598000	0.29829	0.555000	0.69702	AGA	.	.		0.388	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	
UBE4A	9354	hgsc.bcm.edu	37	11	118245934	118245934	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:118245934A>T	ENST00000431736.2	+	9	1533	c.1461A>T	c.(1459-1461)gtA>gtT	p.V487V	UBE4A_ENST00000252108.3_Silent_p.V480V					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAAAAATGTACACATGAGAG	0.433																																					p.V487V		Atlas-SNP	.											.	UBE4A	97	.	0			c.A1461T						.						49.0	46.0	47.0					11																	118245934		2200	4296	6496	SO:0001819	synonymous_variant	9354	exon9			AAATGTACACATG	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1461A>T	chr11.hg19:g.118245934A>T		70.0	0.0		64.0	31.0	NM_004788		Silent	SNP	ENST00000431736.2	hg19	CCDS8396.1																																																																																			.	.		0.433	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
KIRREL3	84623	hgsc.bcm.edu	37	11	126326329	126326329	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:126326329A>T	ENST00000525144.2	-	7	1012	c.763T>A	c.(763-765)Tcg>Acg	p.S255T	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S255T|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S255T	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	255	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GGCTCCACCGAGAGGTTGACC	0.587																																					p.S255T		Atlas-SNP	.											.	KIRREL3	183	.	0			c.T763A						.						36.0	41.0	39.0					11																	126326329		2039	4194	6233	SO:0001583	missense	84623	exon7			CCACCGAGAGGTT	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.763T>A	chr11.hg19:g.126326329A>T	ENSP00000435466:p.Ser255Thr	72.0	0.0		70.0	25.0	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	hg19	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807274	0.31961	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.12361	2.69;2.69;2.69	5.48	5.48	0.80851	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.58101	1.795	0.80722	D	1	B;B;D	0.55605	0.035;0.001;0.972	B;B;P	0.60415	0.019;0.01;0.874	T	0.01245	-1.1407	10	0.66056	D	0.02	.	10.0738	0.42349	0.8502:0.0:0.0:0.1498	.	255;255;255	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	T	255	ENSP00000435466:S255T;ENSP00000434081:S255T;ENSP00000435094:S255T	ENSP00000435466:S255T	S	-	1	0	KIRREL3	125831539	1.000000	0.71417	0.988000	0.46212	0.010000	0.07245	6.953000	0.75995	2.087000	0.62958	0.445000	0.29226	TCG	.	.		0.587	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
ACAD8	27034	hgsc.bcm.edu	37	11	134127071	134127071	+	Silent	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:134127071G>T	ENST00000281182.4	+	3	406	c.300G>T	c.(298-300)ctG>ctT	p.L100L	ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000537423.1_Silent_p.L23L|ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000374752.4_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	100					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GGTCTGGGCTGTCACGTCTTG	0.527																																					p.L100L	GBM(65;238 1125 33403 41853 48889)	Atlas-SNP	.											.	ACAD8	33	.	0			c.G300T						.						120.0	106.0	111.0					11																	134127071		2201	4297	6498	SO:0001819	synonymous_variant	27034	exon3			TGGGCTGTCACGT	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.300G>T	chr11.hg19:g.134127071G>T		100.0	0.0		73.0	33.0	NM_014384	B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	hg19	CCDS8498.1																																																																																			.	.		0.527	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384	
B3GAT1	27087	hgsc.bcm.edu	37	11	134253922	134253922	+	Silent	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr11:134253922G>T	ENST00000524765.1	-	3	4817	c.273C>A	c.(271-273)ccC>ccA	p.P91P	B3GAT1_ENST00000392580.1_Silent_p.P91P|B3GAT1_ENST00000537389.1_Silent_p.P104P|B3GAT1_ENST00000312527.4_Silent_p.P91P|B3GAT1_ENST00000531510.1_5'UTR			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	91					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCTGTAGGTGGGCGTCACCA	0.692																																					p.P91P		Atlas-SNP	.											.	B3GAT1	49	.	0			c.C273A						.						37.0	26.0	30.0					11																	134253922		2200	4294	6494	SO:0001819	synonymous_variant	27087	exon3			GTAGGTGGGCGTC	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.273C>A	chr11.hg19:g.134253922G>T		123.0	0.0		119.0	56.0	NM_054025	Q96FS7	Silent	SNP	ENST00000524765.1	hg19	CCDS8500.1																																																																																			.	.		0.692	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644	
VWF	7450	hgsc.bcm.edu	37	12	6091140	6091140	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:6091140A>C	ENST00000261405.5	-	42	7353	c.7099T>G	c.(7099-7101)Tgc>Ggc	p.C2367G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2367					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTCTTTTGCACTCCTCCTTC	0.592																																					p.C2367G		Atlas-SNP	.											.	VWF	338	.	0			c.T7099G						.						54.0	49.0	50.0					12																	6091140		2203	4300	6503	SO:0001583	missense	7450	exon42			TTTTGCACTCCTC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7099T>G	chr12.hg19:g.6091140A>C	ENSP00000261405:p.Cys2367Gly	68.0	0.0		66.0	25.0	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513203	0.64522	.	.	ENSG00000110799	ENST00000261405	D	0.87809	-2.3	4.83	4.83	0.62350	.	0.000000	0.44483	D	0.000460	D	0.93334	0.7875	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94084	0.7347	10	0.66056	D	0.02	.	13.7391	0.62836	1.0:0.0:0.0:0.0	.	2367	P04275	VWF_HUMAN	G	2367	ENSP00000261405:C2367G	ENSP00000261405:C2367G	C	-	1	0	VWF	5961401	1.000000	0.71417	0.926000	0.36857	0.718000	0.41266	7.962000	0.87912	2.027000	0.59764	0.454000	0.30748	TGC	.	.		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
NCAPD2	9918	hgsc.bcm.edu	37	12	6618958	6618958	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:6618958A>T	ENST00000315579.5	+	3	1002	c.203A>T	c.(202-204)cAt>cTt	p.H68L	NCAPD2_ENST00000545962.1_Splice_Site_p.M43L|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	68	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGCATTTTGCAGTAAGTGAAA	0.418																																					p.H68L		Atlas-SNP	.											.	NCAPD2	99	.	0			c.A203T						.						127.0	124.0	125.0					12																	6618958		2203	4300	6503	SO:0001630	splice_region_variant	9918	exon3			TTTTGCAGTAAGT	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.203+1A>T	chr12.hg19:g.6618958A>T		84.0	0.0		58.0	16.0	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	hg19	CCDS8548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.36|14.36	2.513248|2.513248	0.44660|0.44660	.|.	.|.	ENSG00000010292|ENSG00000010292	ENST00000315579;ENST00000539714;ENST00000382457;ENST00000535602|ENST00000545962	T;T;T|T	0.44083|0.15603	2.56;0.93;1.0|2.41	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.256767|.	0.45867|.	D|.	0.000326|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.54323|0.54323	1.7|1.7	0.21147|0.21147	N|N	0.999772|0.999772	B;B|B	0.33022|0.06786	0.394;0.384|0.001	B;B|B	0.27608|0.01281	0.055;0.081|0.0	T|T	0.11299|0.11299	-1.0593|-1.0593	10|8	0.33940|.	T|.	0.23|.	-8.4094|-8.4094	11.422|11.422	0.49987|0.49987	0.9274:0.0:0.0726:0.0|0.9274:0.0:0.0726:0.0	.|.	68;68|43	B3KY03;Q15021|F5GZJ1	.;CND1_HUMAN|.	L|L	68|43	ENSP00000325017:H68L;ENSP00000444377:H68L;ENSP00000371895:H68L|ENSP00000444417:M43L	ENSP00000325017:H68L|.	H|M	+|+	2|1	0|0	NCAPD2|NCAPD2	6489219|6489219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	5.103000|5.103000	0.64578|0.64578	2.059000|2.059000	0.61396|0.61396	0.454000|0.454000	0.30748|0.30748	CAT|ATG	.	.		0.418	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	Missense_Mutation
CLEC12B	387837	hgsc.bcm.edu	37	12	10167985	10167985	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:10167985A>G	ENST00000338896.5	+	4	672	c.544A>G	c.(544-546)Ata>Gta	p.I182V	RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.I182V	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	182	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCTAGTGAAGATAGACAGTTT	0.358																																					p.I182V		Atlas-SNP	.											.	CLEC12B	25	.	0			c.A544G						.						93.0	97.0	96.0					12																	10167985		2203	4300	6503	SO:0001583	missense	387837	exon4			GTGAAGATAGACA	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.544A>G	chr12.hg19:g.10167985A>G	ENSP00000344563:p.Ile182Val	120.0	0.0		111.0	48.0	NM_001129998	Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	hg19	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099443	0.56183	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.23147	1.92;1.92	4.55	3.41	0.39046	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.087960	0.48286	N	0.000196	T	0.25717	0.0626	M	0.67517	2.055	0.30009	N	0.81538	B;B	0.14012	0.009;0.008	B;B	0.15870	0.008;0.014	T	0.22941	-1.0202	10	0.87932	D	0	.	7.1812	0.25774	0.8946:0.0:0.1054:0.0	.	182;182	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	V	182	ENSP00000379759:I182V;ENSP00000344563:I182V	ENSP00000344563:I182V	I	+	1	0	CLEC12B	10059252	0.997000	0.39634	1.000000	0.80357	0.936000	0.57629	2.395000	0.44459	0.872000	0.35775	0.402000	0.26972	ATA	.	.		0.358	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852	
RAPGEF3	10411	hgsc.bcm.edu	37	12	48143536	48143536	+	Silent	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:48143536C>G	ENST00000449771.2	-	9	970	c.882G>C	c.(880-882)gtG>gtC	p.V294V	RAPGEF3_ENST00000549151.1_Silent_p.V252V|RAPGEF3_ENST00000171000.4_Silent_p.V252V|RAPGEF3_ENST00000395358.3_Silent_p.V294V|RAPGEF3_ENST00000548919.1_Silent_p.V252V|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000389212.3_Silent_p.V294V|RAPGEF3_ENST00000405493.2_Silent_p.V252V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	294					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|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)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGCCATGGGTCACCACGTTGA	0.592																																					p.V294V		Atlas-SNP	.											.	RAPGEF3	98	.	0			c.G882C						.						119.0	100.0	106.0					12																	48143536		2203	4300	6503	SO:0001819	synonymous_variant	10411	exon9			ATGGGTCACCACG	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.882G>C	chr12.hg19:g.48143536C>G		91.0	0.0		55.0	6.0	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	hg19	CCDS41775.1																																																																																			.	.		0.592	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	
KMT2D	8085	hgsc.bcm.edu	37	12	49440559	49440559	+	Missense_Mutation	SNP	C	C	A	rs200353763		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:49440559C>A	ENST00000301067.7	-	15	4250	c.4251G>T	c.(4249-4251)atG>atT	p.M1417I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1417	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTTGAGCAGCATCACCTTGG	0.498																																					p.M1417I		Atlas-SNP	.											.	MLL2	1173	.	0			c.G4251T						.						36.0	39.0	38.0					12																	49440559		2041	4164	6205	SO:0001583	missense	8085	exon15			GAGCAGCATCACC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4251G>T	chr12.hg19:g.49440559C>A	ENSP00000301067:p.Met1417Ile	117.0	0.0		74.0	28.0	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480756	0.44044	.	.	ENSG00000167548	ENST00000301067	D	0.86956	-2.19	4.87	4.87	0.63330	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44688	D	0.000436	T	0.75729	0.3889	N	0.00841	-1.15	0.45015	D	0.99803	D	0.53312	0.959	P	0.49922	0.626	D	0.85834	0.1393	10	0.87932	D	0	.	16.8011	0.85614	0.0:1.0:0.0:0.0	.	1417	O14686	MLL2_HUMAN	I	1417	ENSP00000301067:M1417I	ENSP00000301067:M1417I	M	-	3	0	MLL2	47726826	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.716000	0.84723	2.252000	0.74401	0.561000	0.74099	ATG	.	C|1.000;T|0.000		0.498	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT71	112802	hgsc.bcm.edu	37	12	52946681	52946681	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:52946681T>A	ENST00000267119.5	-	1	250	c.181A>T	c.(181-183)Agt>Tgt	p.S61C		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	61	Gly-rich.|Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCGCTGCCACTGGCCACATTG	0.662																																					p.S61C		Atlas-SNP	.											.	KRT71	70	.	0			c.A181T						.						63.0	72.0	69.0					12																	52946681		2203	4300	6503	SO:0001583	missense	112802	exon1			TGCCACTGGCCAC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.181A>T	chr12.hg19:g.52946681T>A	ENSP00000267119:p.Ser61Cys	89.0	0.0		67.0	34.0	NM_033448	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	hg19	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	T	9.707	1.156124	0.21454	.	.	ENSG00000139648	ENST00000267119	T	0.75704	-0.96	4.77	-2.75	0.05914	.	0.761041	0.11346	N	0.573481	T	0.68174	0.2972	M	0.74258	2.255	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.57033	-0.7880	10	0.38643	T	0.18	.	7.5183	0.27614	0.1403:0.4891:0.0:0.3706	.	61	Q3SY84	K2C71_HUMAN	C	61	ENSP00000267119:S61C	ENSP00000267119:S61C	S	-	1	0	KRT71	51232948	0.000000	0.05858	0.098000	0.21074	0.813000	0.45954	-0.726000	0.04936	-0.575000	0.05982	0.459000	0.35465	AGT	.	.		0.662	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	
PPM1H	57460	hgsc.bcm.edu	37	12	63328291	63328291	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:63328291A>T	ENST00000228705.6	-	1	526	c.226T>A	c.(226-228)Tgg>Agg	p.W76R	Y_RNA_ENST00000516851.1_RNA	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	76							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCAGTGGCCCAGGGCAGCCGC	0.697																																					p.W76R		Atlas-SNP	.											.	PPM1H	42	.	0			c.T226A						.						4.0	7.0	6.0					12																	63328291		1893	3939	5832	SO:0001583	missense	57460	exon1			TGGCCCAGGGCAG	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.226T>A	chr12.hg19:g.63328291A>T	ENSP00000228705:p.Trp76Arg	119.0	0.0		90.0	40.0	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	hg19	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230240	0.79688	.	.	ENSG00000111110	ENST00000228705	T	0.44083	0.93	3.45	3.45	0.39498	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62817	-0.6774	9	.	.	.	8.2293	11.1814	0.48631	1.0:0.0:0.0:0.0	.	76	Q9ULR3	PPM1H_HUMAN	R	76	ENSP00000228705:W76R	.	W	-	1	0	PPM1H	61614558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.059000	0.71133	1.571000	0.49722	0.459000	0.35465	TGG	.	.		0.697	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
EEA1	8411	hgsc.bcm.edu	37	12	93170694	93170694	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:93170694T>A	ENST00000322349.8	-	28	4303	c.4039A>T	c.(4039-4041)Aga>Tga	p.R1347*		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1347					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCCCACTTTCTATTCAACGCT	0.333																																					p.R1347X		Atlas-SNP	.											.	EEA1	104	.	0			c.A4039T						.						219.0	210.0	213.0					12																	93170694		2203	4300	6503	SO:0001587	stop_gained	8411	exon28			ACTTTCTATTCAA	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4039A>T	chr12.hg19:g.93170694T>A	ENSP00000317955:p.Arg1347*	84.0	0.0		85.0	42.0	NM_003566	Q14221	Nonsense_Mutation	SNP	ENST00000322349.8	hg19	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	45	11.459250	0.99564	.	.	ENSG00000102189	ENST00000322349	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5639	0.76273	0.0:0.0:0.0:1.0	.	.	.	.	X	1347	.	ENSP00000317955:R1347X	R	-	1	2	EEA1	91694825	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	4.697000	0.61782	2.070000	0.61991	0.528000	0.53228	AGA	.	.		0.333	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
UTP20	27340	hgsc.bcm.edu	37	12	101745844	101745844	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:101745844A>T	ENST00000261637.4	+	39	5070	c.4896A>T	c.(4894-4896)atA>atT	p.I1632I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1632					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGAAAATATAACCACTGCTG	0.338																																					p.I1632I		Atlas-SNP	.											.	UTP20	222	.	0			c.A4896T						.						105.0	103.0	104.0					12																	101745844		2203	4300	6503	SO:0001819	synonymous_variant	27340	exon39			AAATATAACCACT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4896A>T	chr12.hg19:g.101745844A>T		116.0	0.0		101.0	35.0	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	hg19	CCDS9081.1																																																																																			.	.		0.338	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
CAMKK2	10645	hgsc.bcm.edu	37	12	121691155	121691155	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:121691155A>T	ENST00000324774.5	-	10	1856	c.1028T>A	c.(1027-1029)cTc>cAc	p.L343H	CAMKK2_ENST00000392474.2_Missense_Mutation_p.L343H|CAMKK2_ENST00000347034.2_Missense_Mutation_p.L343H|CAMKK2_ENST00000446440.2_Missense_Mutation_p.L343H|CAMKK2_ENST00000337174.3_Missense_Mutation_p.L343H|CAMKK2_ENST00000402834.4_Missense_Mutation_p.L343H|CAMKK2_ENST00000545538.1_Missense_Mutation_p.L130H|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.L343H|CAMKK2_ENST00000538733.1_Missense_Mutation_p.L343H|CAMKK2_ENST00000412367.2_Missense_Mutation_p.L343H|CAMKK2_ENST00000404169.3_Missense_Mutation_p.L343H	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTGGAGAGGAGCGCGTCACT	0.577																																					p.L343H		Atlas-SNP	.											.	CAMKK2	87	.	0			c.T1028A						.						227.0	159.0	182.0					12																	121691155		2203	4300	6503	SO:0001583	missense	10645	exon10			GAGAGGAGCGCGT	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1028T>A	chr12.hg19:g.121691155A>T	ENSP00000312741:p.Leu343His	130.0	0.0		93.0	40.0	NM_153500	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	hg19	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263682	0.80358	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067242	0.64402	D	0.000017	T	0.70622	0.3245	L	0.41906	1.305	0.58432	D	0.999993	P;D;D;P;B;D;D;D	0.71674	0.942;0.984;0.984;0.889;0.354;0.998;0.996;0.984	P;P;P;P;B;D;D;P	0.67382	0.831;0.881;0.881;0.721;0.283;0.951;0.95;0.831	T	0.73033	-0.4110	10	0.59425	D	0.04	-1.329	14.5272	0.67897	1.0:0.0:0.0:0.0	.	343;343;343;130;343;343;343;343	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	H	343;343;343;343;343;130;343;343;326;343;343	ENSP00000376266:L343H;ENSP00000321230:L343H;ENSP00000445944:L343H;ENSP00000336634:L343H;ENSP00000312741:L343H;ENSP00000441352:L130H;ENSP00000388368:L343H;ENSP00000384600:L343H;ENSP00000388273:L343H;ENSP00000376265:L343H	ENSP00000312741:L343H	L	-	2	0	CAMKK2	120175538	1.000000	0.71417	0.728000	0.30774	0.755000	0.42902	7.041000	0.76558	2.033000	0.60031	0.533000	0.62120	CTC	.	.		0.577	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	
PUS1	80324	hgsc.bcm.edu	37	12	132428101	132428101	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr12:132428101A>T	ENST00000376649.3	+	6	1754	c.1254A>T	c.(1252-1254)gaA>gaT	p.E418D	PUS1_ENST00000535067.1_Missense_Mutation_p.E125D|PUS1_ENST00000440818.2_Missense_Mutation_p.E390D|PUS1_ENST00000443358.2_Missense_Mutation_p.E390D|PUS1_ENST00000542167.2_Missense_Mutation_p.E365D	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	418					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GTCCCCTGGAAGGCAGTGAAG	0.607																																					p.E418D	Esophageal Squamous(102;671 2009 17384 45666)	Atlas-SNP	.											.	PUS1	47	.	0			c.A1254T						.						112.0	100.0	104.0					12																	132428101		2203	4300	6503	SO:0001583	missense	80324	exon6			CCTGGAAGGCAGT	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1254A>T	chr12.hg19:g.132428101A>T	ENSP00000365837:p.Glu418Asp	60.0	0.0		47.0	23.0	NM_025215	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	hg19	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.188014	0.01607	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000440818;ENST00000542167;ENST00000535067	T;T;T;T;T	0.57752	0.55;0.54;0.55;0.53;0.38	2.67	-5.35	0.02697	.	1.298410	0.05470	N	0.552951	T	0.33789	0.0875	L	0.41236	1.265	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.14008	-1.0488	10	0.18710	T	0.47	-19.5947	1.5947	0.02661	0.1895:0.2965:0.3669:0.1471	.	365;418	F5H1S9;Q9Y606	.;TRUA_HUMAN	D	390;418;390;365;125	ENSP00000392451:E390D;ENSP00000365837:E418D;ENSP00000400032:E390D;ENSP00000438948:E365D;ENSP00000443969:E125D	ENSP00000365837:E418D	E	+	3	2	PUS1	130994054	0.003000	0.15002	0.049000	0.19019	0.091000	0.18340	-0.614000	0.05604	-1.693000	0.01427	-0.408000	0.06270	GAA	.	.		0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215	
NUDT15	55270	hgsc.bcm.edu	37	13	48611949	48611949	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr13:48611949T>G	ENST00000258662.2	+	1	247	c.67T>G	c.(67-69)Tgc>Ggc	p.C23G	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	23	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GGTGACCAGCTGCAAGCATCC	0.682											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C23G		Atlas-SNP	.											.	NUDT15	12	.	0			c.T67G						.						34.0	33.0	33.0					13																	48611949		2199	4296	6495	SO:0001583	missense	55270	exon1			ACCAGCTGCAAGC		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.67T>G	chr13.hg19:g.48611949T>G	ENSP00000258662:p.Cys23Gly	217.0	0.0	955	103.0	91.0	NM_018283	A2RUR6|Q32Q27|Q6P2C9	Missense_Mutation	SNP	ENST00000258662.2	hg19	CCDS9407.1	.	.	.	.	.	.	.	.	.	.	T	7.572	0.666850	0.14710	.	.	ENSG00000136159	ENST00000258662	T	0.06528	3.29	5.57	-11.1	0.00147	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.689450	0.16148	N	0.227381	T	0.00936	0.0031	N	0.00317	-1.655	0.19945	N	0.999941	B	0.02656	0.0	B	0.01281	0.0	T	0.37009	-0.9724	10	0.23302	T	0.38	-15.4805	3.3734	0.07229	0.6162:0.1188:0.082:0.183	.	23	Q9NV35	NUD15_HUMAN	G	23	ENSP00000258662:C23G	ENSP00000258662:C23G	C	+	1	0	NUDT15	47509950	0.000000	0.05858	0.006000	0.13384	0.128000	0.20619	-2.545000	0.00933	-1.890000	0.01111	0.533000	0.62120	TGC	.	.		0.682	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283	
CHAMP1	283489	hgsc.bcm.edu	37	13	115090611	115090611	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr13:115090611A>T	ENST00000361283.1	+	3	1603	c.1294A>T	c.(1294-1296)Agt>Tgt	p.S432C		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	432	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGAGATCCGTAGTCCAGCAGG	0.527																																					p.S432C		Atlas-SNP	.											.	.	.	.	0			c.A1294T						.						77.0	86.0	83.0					13																	115090611		2203	4300	6503	SO:0001583	missense	283489	exon3			ATCCGTAGTCCAG	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1294A>T	chr13.hg19:g.115090611A>T	ENSP00000354730:p.Ser432Cys	119.0	0.0		110.0	32.0	NM_001164144	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	hg19	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187300	0.57909	.	.	ENSG00000198824	ENST00000361283	T	0.01287	5.05	5.92	5.92	0.95590	.	0.284783	0.30260	N	0.010029	T	0.04137	0.0115	L	0.40543	1.245	0.40909	D	0.984213	D	0.65815	0.995	P	0.58873	0.847	T	0.61397	-0.7071	9	.	.	.	-9.8501	14.5878	0.68339	1.0:0.0:0.0:0.0	.	432	Q96JM3	ZN828_HUMAN	C	432	ENSP00000354730:S432C	.	S	+	1	0	ZNF828	114108713	0.668000	0.27493	0.666000	0.29783	0.879000	0.50718	3.734000	0.55037	2.260000	0.74910	0.528000	0.53228	AGT	.	.		0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
IRF9	10379	hgsc.bcm.edu	37	14	24634149	24634150	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:24634149_24634150GC>TT	ENST00000396864.3	+	7	1263_1264	c.976_977GC>TT	c.(976-978)GCc>TTc	p.A326F	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.A224F	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	326					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTTCAGAACCGCCTACTTCTGC	0.619																																					p.A326S|p.A326V		Atlas-SNP	.											.	IRF9	33	.	0			c.G976T|c.C977T						.																																			SO:0001583	missense	10379	exon7			AGAACCGCCTACT|GAACCGCCTACTT	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	Exception_encountered	chr14.hg19:g.24634149_24634150delinsTT	ENSP00000380073:p.Ala326Phe	44.0|42.0	0.0		39.0|38.0	16.0	NM_006084	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	hg19	CCDS9615.1																																																																																			.	.		0.619	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2		
ITPK1	3705	hgsc.bcm.edu	37	14	93424588	93424588	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:93424588C>A	ENST00000267615.6	-	8	801	c.628G>T	c.(628-630)Gtc>Ttc	p.V210F	ITPK1_ENST00000556603.2_Missense_Mutation_p.V210F|ITPK1_ENST00000354313.3_Missense_Mutation_p.V210F|ITPK1_ENST00000555495.1_Missense_Mutation_p.V91F|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	210	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGCCTCTGGACCACGGTGTAG	0.582																																					p.V210F		Atlas-SNP	.											.	ITPK1	53	.	0			c.G628T						.						185.0	150.0	162.0					14																	93424588		2203	4300	6503	SO:0001583	missense	3705	exon8			TCTGGACCACGGT	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.628G>T	chr14.hg19:g.93424588C>A	ENSP00000267615:p.Val210Phe	110.0	0.0		101.0	58.0	NM_001142593	Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	hg19	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599892	0.96614	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185	T	0.09445	2.98	5.22	5.22	0.72569	ATP-grasp fold (1);	0.058605	0.64402	D	0.000002	T	0.35740	0.0942	M	0.89095	3.005	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.57548	0.778;0.823	T	0.33854	-0.9852	10	0.41790	T	0.15	-16.5851	18.8139	0.92070	0.0:1.0:0.0:0.0	.	210;210	Q13572;Q13572-2	ITPK1_HUMAN;.	F	210;240;210;91;210;210;168;228	ENSP00000346272:V210F	ENSP00000267615:V210F	V	-	1	0	ITPK1	92494341	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.665000	0.83852	2.432000	0.82394	0.655000	0.94253	GTC	.	.		0.582	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	
HHIPL1	84439	hgsc.bcm.edu	37	14	100138668	100138668	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:100138668G>C	ENST00000330710.5	+	8	1843	c.1745G>C	c.(1744-1746)gGc>gCc	p.G582A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	582					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCACCACCTGGCAAATGTCAG	0.562																																					p.G582A		Atlas-SNP	.											.	HHIPL1	86	.	0			c.G1745C						.						64.0	67.0	66.0					14																	100138668		692	1591	2283	SO:0001583	missense	84439	exon8			CACCTGGCAAATG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1745G>C	chr14.hg19:g.100138668G>C	ENSP00000330601:p.Gly582Ala	123.0	0.0		117.0	8.0	NM_001127258	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	hg19	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868313	0.91587	.	.	ENSG00000182218	ENST00000330710	T	0.01335	5.0	5.28	5.28	0.74379	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.08403	0.0209	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.07347	-1.0777	9	0.44086	T	0.13	.	18.9509	0.92641	0.0:0.0:1.0:0.0	.	582	Q96JK4	HIPL1_HUMAN	A	582	ENSP00000330601:G582A	ENSP00000330601:G582A	G	+	2	0	HHIPL1	99208421	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.344000	0.79328	2.477000	0.83638	0.645000	0.84053	GGC	.	.		0.562	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
JAG2	3714	hgsc.bcm.edu	37	14	105609964	105609964	+	Silent	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:105609964A>T	ENST00000331782.3	-	25	3499	c.3096T>A	c.(3094-3096)ccT>ccA	p.P1032P	JAG2_ENST00000347004.2_Silent_p.P994P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1032					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTCCCTGGCAGGGCTGAAGG	0.682																																					p.P1032P		Atlas-SNP	.											.	JAG2	69	.	0			c.T3096A						.						45.0	44.0	44.0					14																	105609964		2202	4298	6500	SO:0001819	synonymous_variant	3714	exon25			CCTGGCAGGGCTG	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3096T>A	chr14.hg19:g.105609964A>T		53.0	0.0		51.0	22.0	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	hg19	CCDS9998.1																																																																																			.	.		0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
PACS2	23241	hgsc.bcm.edu	37	14	105849223	105849223	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:105849223G>T	ENST00000325438.8	+	15	2090	c.1586G>T	c.(1585-1587)aGc>aTc	p.S529I	PACS2_ENST00000547217.1_Missense_Mutation_p.S499I|PACS2_ENST00000447393.1_Missense_Mutation_p.S533I|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.S533I|PACS2_ENST00000430725.2_Missense_Mutation_p.S454I			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	529					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCGGCCTTCAGCACCATCGTC	0.632																																					p.S533I		Atlas-SNP	.											.	PACS2	75	.	0			c.G1598T						.						80.0	70.0	73.0					14																	105849223		2202	4300	6502	SO:0001583	missense	23241	exon15			CCTTCAGCACCAT	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1586G>T	chr14.hg19:g.105849223G>T	ENSP00000321834:p.Ser529Ile	35.0	0.0		29.0	13.0	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	hg19	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885520	0.33255	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.52	4.52	0.55395	.	0.050976	0.85682	D	0.000000	T	0.40297	0.1111	L	0.41824	1.3	0.49299	D	0.999771	B;B;B;B	0.24618	0.054;0.022;0.107;0.006	B;B;B;B	0.30716	0.114;0.047;0.119;0.006	T	0.38457	-0.9660	10	0.56958	D	0.05	-28.1887	9.9605	0.41693	0.0969:0.0:0.9031:0.0	.	533;533;529;530	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	I	454;529;533;533;499	ENSP00000393524:S454I;ENSP00000321834:S529I;ENSP00000399732:S533I;ENSP00000393559:S533I;ENSP00000449525:S499I	ENSP00000321834:S529I	S	+	2	0	PACS2	104920268	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.475000	0.45162	2.210000	0.71456	0.462000	0.41574	AGC	.	.		0.632	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355	
MTA1	9112	hgsc.bcm.edu	37	14	105931455	105931455	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:105931455C>T	ENST00000331320.7	+	16	1773	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	MTA1_ENST00000405646.1_Missense_Mutation_p.S503F|MTA1_ENST00000435036.2_Missense_Mutation_p.S56F|MTA1_ENST00000406191.1_Missense_Mutation_p.S520F|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	520					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCCGAAGCCTCCCAGAGCCCG	0.711																																					p.S520F		Atlas-SNP	.											.	MTA1	61	.	0			c.C1559T						.						8.0	12.0	11.0					14																	105931455		1712	3151	4863	SO:0001583	missense	9112	exon16			AAGCCTCCCAGAG	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1559C>T	chr14.hg19:g.105931455C>T	ENSP00000333633:p.Ser520Phe	119.0	0.0		100.0	37.0	NM_004689	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	hg19	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358316	0.61403	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.48522	1.42;1.42;1.42;1.43;0.81	5.38	5.38	0.77491	.	0.112601	0.64402	D	0.000006	T	0.51635	0.1686	M	0.69823	2.125	0.58432	D	0.999994	B;B	0.17465	0.004;0.022	B;B	0.17979	0.01;0.02	T	0.52162	-0.8612	10	0.62326	D	0.03	-27.0519	17.6815	0.88245	0.0:1.0:0.0:0.0	.	312;520	Q59FW1;Q13330	.;MTA1_HUMAN	F	429;520;520;503;312;56	ENSP00000333633:S520F;ENSP00000385702:S520F;ENSP00000384180:S503F;ENSP00000394106:S312F;ENSP00000389425:S56F	ENSP00000333633:S520F	S	+	2	0	MTA1	105002500	0.212000	0.23540	0.896000	0.35187	0.696000	0.40369	4.283000	0.58977	2.518000	0.84900	0.561000	0.74099	TCC	.	.		0.711	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		
HERC2	8924	hgsc.bcm.edu	37	15	28474355	28474355	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:28474355T>C	ENST00000261609.7	-	34	5366	c.5258A>G	c.(5257-5259)aAa>aGa	p.K1753R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTTTAAATTTGGCACTGGC	0.378																																					p.K1753R		Atlas-SNP	.											.	HERC2	501	.	0			c.A5258G						.						111.0	123.0	119.0					15																	28474355		2203	4300	6503	SO:0001583	missense	8924	exon34			TTAAATTTGGCAC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5258A>G	chr15.hg19:g.28474355T>C	ENSP00000261609:p.Lys1753Arg	339.0	0.0		245.0	100.0	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817701	0.16607	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	4.41	-0.914	0.10497	.	0.627123	0.16621	N	0.206467	T	0.24586	0.0596	L	0.27053	0.805	0.29395	N	0.862372	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.16420	T	0.52	.	10.2316	0.43258	0.0:0.546:0.0:0.454	.	1753	O95714	HERC2_HUMAN	R	1753	ENSP00000261609:K1753R	ENSP00000261609:K1753R	K	-	2	0	HERC2	26147950	0.976000	0.34144	0.969000	0.41365	0.995000	0.86356	0.467000	0.22035	-0.060000	0.13132	0.454000	0.30748	AAA	.	.		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
GREM1	26585	hgsc.bcm.edu	37	15	33022899	33022899	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:33022899G>A	ENST00000300177.4	+	2	197	c.8G>A	c.(7-9)cGc>cAc	p.R3H	GREM1_ENST00000322805.4_Missense_Mutation_p.R3H|GREM1_ENST00000560677.1_Missense_Mutation_p.R3H|GREM1_ENST00000560830.1_Missense_Mutation_p.R3H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	3					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		AGTATGAGCCGCACAGCCTAC	0.498																																					p.R3H		Atlas-SNP	.											.	GREM1	18	.	0			c.G8A						.						22.0	25.0	24.0					15																	33022899		2147	4212	6359	SO:0001583	missense	26585	exon2			TGAGCCGCACAGC		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.8G>A	chr15.hg19:g.33022899G>A	ENSP00000300177:p.Arg3His	170.0	0.0		133.0	49.0	NM_001191322	Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	hg19	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182110	0.78677	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.35421	1.4;1.31	5.25	5.25	0.73442	.	0.245861	0.42294	D	0.000739	T	0.51143	0.1657	L	0.39898	1.24	0.48571	D	0.99967	D;P;P	0.69078	0.997;0.878;0.774	D;B;B	0.64237	0.923;0.074;0.161	T	0.47045	-0.9147	10	0.52906	T	0.07	-26.7977	19.0472	0.93027	0.0:0.0:1.0:0.0	.	3;3;3	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	H	3	ENSP00000300177:R3H;ENSP00000323101:R3H	ENSP00000300177:R3H	R	+	2	0	GREM1	30810191	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.576000	0.90770	2.749000	0.94314	0.655000	0.94253	CGC	.	.		0.498	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372	
PLA2G4E	123745	hgsc.bcm.edu	37	15	42342841	42342841	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:42342841T>C	ENST00000399518.3	-	1	547	c.61A>G	c.(61-63)Agc>Ggc	p.S21G		NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTTTGTGGGCTCTGTGGGACA	0.572																																					p.S21G		Atlas-SNP	.											.	PLA2G4E	60	.	0			c.A61G						.																																			SO:0001583	missense	123745	exon1			GTGGGCTCTGTGG		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.61A>G	chr15.hg19:g.42342841T>C	ENSP00000382434:p.Ser21Gly	87.0	0.0		62.0	25.0	NM_001206670	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	hg19	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675735	0.29783	.	.	ENSG00000188089	ENST00000399518	T	0.01647	4.71	4.82	1.11	0.20524	.	.	.	.	.	T	0.01592	0.0051	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.49113	-0.8973	7	0.56958	D	0.05	-1.0053	4.0757	0.09902	0.0:0.1891:0.178:0.633	.	.	.	.	G	21	ENSP00000382434:S21G	ENSP00000382434:S21G	S	-	1	0	PLA2G4E	40130133	0.003000	0.15002	0.000000	0.03702	0.025000	0.11179	1.113000	0.31184	0.081000	0.16988	0.459000	0.35465	AGC	.	.		0.572	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	
TP53BP1	7158	hgsc.bcm.edu	37	15	43724680	43724680	+	Silent	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:43724680C>G	ENST00000263801.3	-	17	3624	c.3372G>C	c.(3370-3372)gtG>gtC	p.V1124V	TP53BP1_ENST00000382044.4_Silent_p.V1129V|TP53BP1_ENST00000450115.2_Silent_p.V1129V|TP53BP1_ENST00000382039.3_Silent_p.V1129V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1124					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTCTTCTAGCACATCTGTCA	0.473								Other conserved DNA damage response genes																													p.V1129V		Atlas-SNP	.											.	TP53BP1	157	.	0			c.G3387C						.						136.0	126.0	129.0					15																	43724680		2201	4298	6499	SO:0001819	synonymous_variant	7158	exon17			TTCTAGCACATCT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3372G>C	chr15.hg19:g.43724680C>G		108.0	0.0		76.0	27.0	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	hg19	CCDS10096.1																																																																																			.	.		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
ANXA2	302	hgsc.bcm.edu	37	15	60678246	60678246	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:60678246T>A	ENST00000396024.3	-	3	188	c.29A>T	c.(28-30)aAg>aTg	p.K10M	ANXA2_ENST00000332680.4_Missense_Mutation_p.K28M|ANXA2_ENST00000451270.2_Missense_Mutation_p.K10M|ANXA2_ENST00000421017.2_Missense_Mutation_p.K10M|ANXA2_ENST00000557937.1_5'UTR	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	10	S100A10-binding site. {ECO:0000255}.				angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CAAGCTGAGCTTGCACAGGAT	0.373																																					p.K28M		Atlas-SNP	.											.	ANXA2	28	.	0			c.A83T						.						76.0	70.0	72.0					15																	60678246		2203	4300	6503	SO:0001583	missense	302	exon2			CTGAGCTTGCACA	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.29A>T	chr15.hg19:g.60678246T>A	ENSP00000379342:p.Lys10Met	525.0	0.0		403.0	187.0	NM_001002858	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	hg19	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065152	0.76187	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.02177	4.45;4.41;4.45;4.45	5.64	5.64	0.86602	.	0.067843	0.64402	U	0.000017	T	0.04363	0.0120	N	0.08118	0	0.47949	D	0.999552	D;D;D	0.76494	0.994;0.999;0.976	D;D;P	0.79784	0.94;0.993;0.72	T	0.62329	-0.6877	10	0.51188	T	0.08	.	12.2636	0.54665	0.0:0.0:0.0:1.0	.	10;28;10	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	M	10;28;10;10	ENSP00000379342:K10M;ENSP00000346032:K28M;ENSP00000411352:K10M;ENSP00000387545:K10M	ENSP00000346032:K28M	K	-	2	0	ANXA2	58465538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.328000	0.59253	2.160000	0.67779	0.528000	0.53228	AAG	.	.		0.373	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857	
VPS13C	54832	hgsc.bcm.edu	37	15	62212341	62212341	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:62212341T>A	ENST00000261517.5	-	57	7475	c.7402A>T	c.(7402-7404)Agc>Tgc	p.S2468C	VPS13C_ENST00000249837.3_Missense_Mutation_p.S2425C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2425C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2468C	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						GGTACCATGCTGGCATACTCC	0.418																																					p.S2468C		Atlas-SNP	.											.	VPS13C	506	.	0			c.A7402T						.						107.0	105.0	106.0					15																	62212341		2203	4300	6503	SO:0001583	missense	54832	exon57			CCATGCTGGCATA	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.7402A>T	chr15.hg19:g.62212341T>A	ENSP00000261517:p.Ser2468Cys	128.0	0.0		126.0	45.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470734	0.26423	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46819	0.86;0.86;1.03	5.56	1.9	0.25705	.	0.660369	0.16388	N	0.216566	T	0.38612	0.1047	L	0.44542	1.39	0.09310	N	1	P;P;P;P	0.47604	0.606;0.738;0.898;0.836	P;B;P;B	0.45474	0.482;0.413;0.482;0.289	T	0.25745	-1.0123	10	0.56958	D	0.05	.	3.59	0.07985	0.1613:0.3049:0.0:0.5338	.	2425;2468;2425;2468	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	2425;2468;2468;2468	ENSP00000249837:S2425C;ENSP00000261517:S2468C;ENSP00000379233:S2468C	ENSP00000249837:S2425C	S	-	1	0	VPS13C	59999633	0.000000	0.05858	0.162000	0.22713	0.498000	0.33706	0.414000	0.21164	0.061000	0.16311	0.528000	0.53228	AGC	.	.		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
LACTB	114294	hgsc.bcm.edu	37	15	63419550	63419550	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:63419550A>T	ENST00000261893.4	+	4	687		c.e4-1		RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Splice_Site	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTTTACAATTAGGTTTCTGTC	0.303																																					.	Melanoma(85;443 1381 6215 27308 35583)	Atlas-SNP	.											.	LACTB	29	.	0			c.616-2A>T						.						50.0	57.0	55.0					15																	63419550		2202	4290	6492	SO:0001630	splice_region_variant	114294	exon4			ACAATTAGGTTTC	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.616-1A>T	chr15.hg19:g.63419550A>T		214.0	0.0		198.0	81.0	NM_171846	P83096	Splice_Site	SNP	ENST00000261893.4	hg19	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128033	0.77549	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7096	0.77615	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LACTB	61206603	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.339000	0.90041	2.307000	0.77673	0.528000	0.53228	.	.	.		0.303	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	Intron
KIAA1024	23251	hgsc.bcm.edu	37	15	79749293	79749293	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr15:79749293G>A	ENST00000305428.3	+	2	879	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	268						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACAATTTGATGGCAGTGTCCC	0.493																																					p.M268I		Atlas-SNP	.											.	KIAA1024	146	.	0			c.G804A						.						85.0	96.0	92.0					15																	79749293		2196	4293	6489	SO:0001583	missense	23251	exon2			TTTGATGGCAGTG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.804G>A	chr15.hg19:g.79749293G>A	ENSP00000307461:p.Met268Ile	141.0	0.0		132.0	54.0	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	hg19	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.741227	0.00675	.	.	ENSG00000169330	ENST00000305428	T	0.30981	1.51	5.29	2.09	0.27110	.	0.355735	0.34088	N	0.004274	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17745	-1.0359	9	.	.	.	.	3.8649	0.09012	0.0835:0.1928:0.4761:0.2476	.	268	Q9UPX6	K1024_HUMAN	I	268	ENSP00000307461:M268I	.	M	+	3	0	KIAA1024	77536348	0.947000	0.32204	0.064000	0.19789	0.257000	0.26127	1.101000	0.31037	1.156000	0.42514	0.591000	0.81541	ATG	.	.		0.493	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
FLYWCH1	84256	hgsc.bcm.edu	37	16	2983205	2983205	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:2983205A>C	ENST00000253928.9	+	5	1276	c.871A>C	c.(871-873)Aag>Cag	p.K291Q	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.K290Q|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.K291Q			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	291						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GTTCCTCTACAAGCGGGAGAA	0.657																																					p.K290Q		Atlas-SNP	.											.	FLYWCH1	27	.	0			c.A868C						.						37.0	40.0	39.0					16																	2983205		2048	4174	6222	SO:0001583	missense	84256	exon5			CTCTACAAGCGGG	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.871A>C	chr16.hg19:g.2983205A>C	ENSP00000253928:p.Lys291Gln	46.0	0.0		42.0	10.0	NM_020912	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	hg19		.	.	.	.	.	.	.	.	.	.	A	17.45	3.393250	0.62066	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.04	4.04	0.47022	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.54711	0.1875	L	0.48642	1.525	0.26490	N	0.974959	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.923	T	0.41270	-0.9518	8	0.54805	T	0.06	.	9.9533	0.41651	1.0:0.0:0.0:0.0	.	291;290	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	Q	291;291;290	.	ENSP00000253928:K291Q	K	+	1	0	FLYWCH1	2923206	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.665000	0.46791	1.791000	0.52520	0.459000	0.35465	AAG	.	.		0.657	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296	
SLX4	84464	hgsc.bcm.edu	37	16	3634809	3634809	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:3634809G>C	ENST00000294008.3	-	13	5340	c.4700C>G	c.(4699-4701)tCc>tGc	p.S1567C	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1567	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCCATAATGGAATACTGTGG	0.493								Direct reversal of damage																													p.S1567C		Atlas-SNP	.											.	SLX4	173	.	0			c.C4700G						.						174.0	162.0	166.0					16																	3634809		2197	4300	6497	SO:0001583	missense	84464	exon13			ATAATGGAATACT	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4700C>G	chr16.hg19:g.3634809G>C	ENSP00000294008:p.Ser1567Cys	125.0	0.0		95.0	47.0	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	hg19	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711836	0.89112	.	.	ENSG00000188827	ENST00000294008	T	0.01538	4.79	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	M	0.77820	2.39	0.47094	D	0.999316	D	0.89917	1.0	D	0.91635	0.999	T	0.00046	-1.2214	10	0.87932	D	0	.	16.8496	0.85990	0.0:0.0:1.0:0.0	.	1567	Q8IY92	SLX4_HUMAN	C	1567	ENSP00000294008:S1567C	ENSP00000294008:S1567C	S	-	2	0	SLX4	3574810	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.904000	0.87408	2.723000	0.93209	0.655000	0.94253	TCC	.	.		0.493	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
CREBBP	1387	hgsc.bcm.edu	37	16	3807812	3807812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:3807812T>A	ENST00000262367.5	-	18	4416	c.3607A>T	c.(3607-3609)Aag>Tag	p.K1203*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.K1165*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1203	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACTGTACCTTGCGTCCACAG	0.453			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.K1203X		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.A3607T						.						76.0	68.0	71.0					16																	3807812		2197	4300	6497	SO:0001587	stop_gained	1387	exon18			GTACCTTGCGTCC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3607A>T	chr16.hg19:g.3807812T>A	ENSP00000262367:p.Lys1203*	33.0	0.0		48.0	19.0	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	50	16.370891	0.99861	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.0443	15.7654	0.78123	0.0:0.0:0.0:1.0	.	.	.	.	X	1203;1233;1165	.	ENSP00000262367:K1203X	K	-	1	0	CREBBP	3747813	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.932000	0.87634	2.127000	0.65507	0.477000	0.44152	AAG	.	.		0.453	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ADCY9	115	hgsc.bcm.edu	37	16	4057436	4057436	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:4057436T>A	ENST00000294016.3	-	3	2355	c.1817A>T	c.(1816-1818)cAg>cTg	p.Q606L	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	606					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGCTGTCCCCTGTCCCCTAGG	0.498																																					p.Q606L		Atlas-SNP	.											.	ADCY9	151	.	0			c.A1817T						.						110.0	97.0	101.0					16																	4057436		2197	4300	6497	SO:0001583	missense	115	exon3			GTCCCCTGTCCCC	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1817A>T	chr16.hg19:g.4057436T>A	ENSP00000294016:p.Gln606Leu	44.0	0.0		29.0	12.0	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643046	0.47153	.	.	ENSG00000162104	ENST00000294016	D	0.82984	-1.67	5.55	3.29	0.37713	.	0.348949	0.32416	N	0.006140	T	0.72415	0.3457	L	0.44542	1.39	0.43628	D	0.99601	B	0.26672	0.156	B	0.19666	0.026	T	0.63506	-0.6622	10	0.36615	T	0.2	.	5.9302	0.19134	0.0:0.0853:0.1664:0.7483	.	606	O60503	ADCY9_HUMAN	L	606	ENSP00000294016:Q606L	ENSP00000294016:Q606L	Q	-	2	0	ADCY9	3997437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.903000	0.39858	0.476000	0.27440	0.523000	0.50628	CAG	.	.		0.498	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
DNAH3	55567	hgsc.bcm.edu	37	16	21086768	21086768	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:21086768A>T	ENST00000261383.3	-	21	3083	c.3084T>A	c.(3082-3084)acT>acA	p.T1028T	DNAH3_ENST00000415178.1_Splice_Site_p.T1028T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1028	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGACTCACAGTGTCCCTGT	0.448																																					p.T1028T		Atlas-SNP	.											.	DNAH3	1142	.	0			c.T3084A						.						122.0	108.0	113.0					16																	21086768		2201	4300	6501	SO:0001630	splice_region_variant	55567	exon21			ACTCACAGTGTCC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3084+1T>A	chr16.hg19:g.21086768A>T		260.0	0.0		220.0	105.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	hg19	CCDS10594.1																																																																																			.	.		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	Silent
TAOK2	9344	hgsc.bcm.edu	37	16	29990374	29990374	+	Silent	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:29990374C>T	ENST00000308893.4	+	6	1475	c.432C>T	c.(430-432)tcC>tcT	p.S144S	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Silent_p.S144S|TAOK2_ENST00000279394.3_Silent_p.S144S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCTGCACTCCCACAACATGA	0.577																																					p.S144S		Atlas-SNP	.											.	TAOK2	142	.	0			c.C432T						.						83.0	79.0	80.0					16																	29990374		2197	4300	6497	SO:0001819	synonymous_variant	9344	exon6			GCACTCCCACAAC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.432C>T	chr16.hg19:g.29990374C>T		101.0	0.0		81.0	38.0	NM_004783	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	hg19	CCDS10663.1																																																																																			.	.		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
LONP2	83752	hgsc.bcm.edu	37	16	48368263	48368263	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:48368263A>C	ENST00000285737.4	+	12	2025	c.1932A>C	c.(1930-1932)gaA>gaC	p.E644D	LONP2_ENST00000535754.1_Missense_Mutation_p.E600D	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGATGTATGAAATGGAGGTGA	0.473																																					p.E644D		Atlas-SNP	.											.	LONP2	63	.	0			c.A1932C						.						137.0	132.0	134.0					16																	48368263		2200	4300	6500	SO:0001583	missense	83752	exon12			GTATGAAATGGAG	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1932A>C	chr16.hg19:g.48368263A>C	ENSP00000285737:p.Glu644Asp	130.0	0.0		62.0	46.0	NM_031490		Missense_Mutation	SNP	ENST00000285737.4	hg19	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	6.440	0.449304	0.12223	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.30182	1.54;1.54	5.76	-1.05	0.10036	Peptidase S16, Lon C-terminal (1);	0.095518	0.64402	D	0.000001	T	0.07908	0.0198	N	0.02697	-0.525	0.32081	N	0.593103	B;B	0.12630	0.006;0.006	B;B	0.15484	0.013;0.013	T	0.32455	-0.9906	10	0.06365	T	0.9	-26.0722	3.3072	0.07003	0.3951:0.116:0.3765:0.1124	.	600;644	B7ZKL7;Q86WA8	.;LONP2_HUMAN	D	644;373;600;600	ENSP00000285737:E644D;ENSP00000445426:E600D	ENSP00000285737:E644D	E	+	3	2	LONP2	46925764	0.990000	0.36364	0.979000	0.43373	0.967000	0.64934	0.307000	0.19296	-0.372000	0.07992	-0.256000	0.11100	GAA	.	.		0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
CDH8	1006	hgsc.bcm.edu	37	16	61689606	61689606	+	Silent	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:61689606C>T	ENST00000577390.1	-	11	2628	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	CDH8_ENST00000577730.1_Silent_p.L558L|CDH8_ENST00000299345.6_Silent_p.L558L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATGCTTTGCCAAAATACTGA	0.348																																					p.L558L		Atlas-SNP	.											.	CDH8	273	.	0			c.G1674A						.						87.0	84.0	85.0					16																	61689606		2203	4300	6503	SO:0001819	synonymous_variant	1006	exon11			CTTTGCCAAAATA	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1674G>A	chr16.hg19:g.61689606C>T		177.0	0.0		78.0	57.0	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	hg19	CCDS10802.1																																																																																			.	.		0.348	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
AGRP	181	hgsc.bcm.edu	37	16	67517219	67517219	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:67517219A>T	ENST00000290953.2	-	2	382	c.83T>A	c.(82-84)aTg>aAg	p.M28K	ATP6V0D1_ENST00000290949.3_5'Flank|ATP6V0D1_ENST00000540149.1_5'Flank|RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related neuropeptide	28					adult feeding behavior (GO:0008343)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|hormone-mediated signaling pathway (GO:0009755)|maternal process involved in female pregnancy (GO:0060135)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of feeding behavior (GO:2000253)|regulation of feeding behavior (GO:0060259)|response to insulin (GO:0032868)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		GATGCCCTCCATGGGGGCCAA	0.672																																					p.M28K		Atlas-SNP	.											.	AGRP	8	.	0			c.T83A						.						21.0	21.0	21.0					16																	67517219		2198	4299	6497	SO:0001583	missense	181	exon2			CCCTCCATGGGGG	U88063	CCDS10839.1	16q22	2014-07-15	2014-07-15		ENSG00000159723	ENSG00000159723		"""Endogenous ligands"""	330	protein-coding gene	gene with protein product		602311	"""agouti (mouse) related protein"", ""agouti related protein homolog (mouse)"""			9119224, 9311920	Standard	NM_001138		Approved	Agrt, ART, ASIP2	uc002etg.1	O00253	OTTHUMG00000137509	ENST00000290953.2:c.83T>A	chr16.hg19:g.67517219A>T	ENSP00000290953:p.Met28Lys	137.0	0.0		51.0	39.0	NM_001138	O15459|Q2TBD9	Missense_Mutation	SNP	ENST00000290953.2	hg19	CCDS10839.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979494	0.34942	.	.	ENSG00000159723	ENST00000290953	T	0.40225	1.04	5.67	3.05	0.35203	.	0.773311	0.12205	N	0.489835	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22312	-1.0220	10	0.18276	T	0.48	-9.3363	6.1218	0.20157	0.762:0.0:0.0894:0.1485	.	28	O00253	AGRP_HUMAN	K	28	ENSP00000290953:M28K	ENSP00000290953:M28K	M	-	2	0	AGRP	66074720	0.316000	0.24580	0.753000	0.31225	0.846000	0.48090	0.901000	0.28445	0.941000	0.37499	0.460000	0.39030	ATG	.	.		0.672	AGRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268828.1		
IL34	146433	hgsc.bcm.edu	37	16	70690996	70690996	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:70690996T>A	ENST00000288098.2	+	4	757	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	IL34_ENST00000429149.2_Missense_Mutation_p.L125Q|IL34_ENST00000566361.1_Missense_Mutation_p.L100Q	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	125					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTGGAGACGCTGCTGCTGAAT	0.602																																					p.L125Q		Atlas-SNP	.											.	IL34	26	.	0			c.T374A						.						114.0	80.0	91.0					16																	70690996		2198	4300	6498	SO:0001583	missense	146433	exon5			AGACGCTGCTGCT	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.374T>A	chr16.hg19:g.70690996T>A	ENSP00000288098:p.Leu125Gln	43.0	0.0		22.0	18.0	NM_152456	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	hg19	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461608	0.84317	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.62941	-0.01;-0.01	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000030	T	0.71195	0.3311	M	0.78637	2.42	0.40811	D	0.983424	P;P	0.50943	0.94;0.94	P;P	0.54100	0.742;0.742	T	0.76146	-0.3066	10	0.87932	D	0	-19.628	8.5084	0.33201	0.1726:0.0:0.0:0.8274	.	124;125	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	Q	125	ENSP00000397863:L125Q;ENSP00000288098:L125Q	ENSP00000288098:L125Q	L	+	2	0	IL34	69248497	0.987000	0.35691	0.940000	0.37924	0.463000	0.32649	1.912000	0.39946	1.956000	0.56807	0.402000	0.26972	CTG	.	.		0.602	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456	
DNAAF1	123872	hgsc.bcm.edu	37	16	84203529	84203529	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr16:84203529T>A	ENST00000378553.5	+	8	1219	c.1095T>A	c.(1093-1095)ccT>ccA	p.P365P	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Silent_p.P365P	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	365					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGGAGGAGCCTCCCGGGGACA	0.532																																					p.P365P		Atlas-SNP	.											.	DNAAF1	81	.	0			c.T1095A						.						70.0	75.0	73.0					16																	84203529		2200	4300	6500	SO:0001819	synonymous_variant	123872	exon8			GGAGCCTCCCGGG	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1095T>A	chr16.hg19:g.84203529T>A		130.0	0.0		58.0	44.0	NM_178452	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	hg19	CCDS10943.2																																																																																			.	.		0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
NXN	64359	hgsc.bcm.edu	37	17	722716	722716	+	Silent	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:722716G>C	ENST00000336868.3	-	5	874	c.783C>G	c.(781-783)gcC>gcG	p.A261A	NXN_ENST00000538650.1_Silent_p.A12A|NXN_ENST00000575801.1_Silent_p.A153A|NXN_ENST00000537628.2_Silent_p.A12A	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	261	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCGACCGCCGGGCCTCATCCG	0.642																																					p.A261A		Atlas-SNP	.											.	NXN	32	.	0			c.C783G						.						64.0	63.0	63.0					17																	722716		2203	4300	6503	SO:0001819	synonymous_variant	64359	exon5			CCGCCGGGCCTCA		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.783C>G	chr17.hg19:g.722716G>C		106.0	0.0		52.0	42.0	NM_022463	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	hg19	CCDS10998.1																																																																																			.	.		0.642	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
SDF2	6388	hgsc.bcm.edu	37	17	26982447	26982447	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:26982447T>A	ENST00000247020.4	-	2	504	c.206A>T	c.(205-207)tAc>tTc	p.Y69F	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	69	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					TATCCTCCAGTAACTGTTGCT	0.537																																					p.Y69F		Atlas-SNP	.											.	SDF2	17	.	0			c.A206T						.						201.0	181.0	188.0					17																	26982447		2203	4300	6503	SO:0001583	missense	6388	exon2			CTCCAGTAACTGT	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.206A>T	chr17.hg19:g.26982447T>A	ENSP00000247020:p.Tyr69Phe	132.0	0.0		123.0	58.0	NM_006923	Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	hg19	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	T	33	5.194512	0.94960	.	.	ENSG00000132581	ENST00000247020	D	0.86230	-2.09	5.95	5.95	0.96441	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	M	0.83118	2.625	0.58432	D	0.999999	P	0.48407	0.91	P	0.53912	0.737	D	0.91681	0.5358	10	0.40728	T	0.16	-16.3264	16.0893	0.81082	0.0:0.0:0.0:1.0	.	69	Q99470	SDF2_HUMAN	F	69	ENSP00000247020:Y69F	ENSP00000247020:Y69F	Y	-	2	0	SDF2	24006574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.688000	0.84153	2.279000	0.76181	0.533000	0.62120	TAC	.	.		0.537	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923	
NSRP1	84081	hgsc.bcm.edu	37	17	28507943	28507943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:28507943A>T	ENST00000247026.5	+	6	589	c.526A>T	c.(526-528)Aag>Tag	p.K176*	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	176					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGATGTAACCAAGCAGAAAGA	0.373																																					p.K176X		Atlas-SNP	.											.	NSRP1	49	.	0			c.A526T						.						138.0	137.0	137.0					17																	28507943		2203	4300	6503	SO:0001587	stop_gained	84081	exon6			GTAACCAAGCAGA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.526A>T	chr17.hg19:g.28507943A>T	ENSP00000247026:p.Lys176*	100.0	0.0		81.0	32.0	NM_032141	Q6FI71	Nonsense_Mutation	SNP	ENST00000247026.5	hg19	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922258	0.73213	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0647	14.104	0.65075	1.0:0.0:0.0:0.0	.	.	.	.	X	176;107;122	.	ENSP00000247026:K176X	K	+	1	0	NSRP1	25532069	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	8.850000	0.92190	1.918000	0.55548	0.533000	0.62120	AAG	.	.		0.373	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141	
COPRS	55352	hgsc.bcm.edu	37	17	30179202	30179202	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:30179202T>A	ENST00000302362.6	-	4	648	c.511A>T	c.(511-513)Aag>Tag	p.K171*	COPRS_ENST00000378634.2_Nonsense_Mutation_p.K159*	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	171					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										AAGACCATCTTGGAATAATAG	0.507																																					p.K171X		Atlas-SNP	.											.	.	.	.	0			c.A511T						.						131.0	114.0	120.0					17																	30179202		2203	4300	6503	SO:0001587	stop_gained	55352	exon4			CCATCTTGGAATA	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.511A>T	chr17.hg19:g.30179202T>A	ENSP00000304327:p.Lys171*	157.0	0.0		140.0	54.0	NM_018405	A6NP14|E1P656|Q96EF5|Q96P75	Nonsense_Mutation	SNP	ENST00000302362.6	hg19	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	T	36	5.761698	0.96906	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	.	.	.	5.02	5.02	0.67125	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.50313	D	0.999863	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5963	11.1531	0.48471	0.0:0.0:0.0:1.0	.	.	.	.	X	171;159	.	ENSP00000304327:K171X	K	-	1	0	C17orf79	27203315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.371000	0.52379	1.877000	0.54381	0.533000	0.62120	AAG	.	.		0.507	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405	
FNDC8	54752	hgsc.bcm.edu	37	17	33456507	33456507	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:33456507G>A	ENST00000158009.5	+	3	767	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	218	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		ACAGGAGGTGGCCAAGACACA	0.527																																					p.A218T		Atlas-SNP	.											.	FNDC8	28	.	0			c.G652A						.						109.0	101.0	104.0					17																	33456507		2203	4300	6503	SO:0001583	missense	54752	exon3			GAGGTGGCCAAGA	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.652G>A	chr17.hg19:g.33456507G>A	ENSP00000158009:p.Ala218Thr	101.0	0.0		99.0	4.0	NM_017559	B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	hg19	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	G	5.984	0.365550	0.11352	.	.	ENSG00000073598	ENST00000158009	T	0.39056	1.1	5.24	-3.49	0.04724	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.335090	0.04914	N	0.453661	T	0.20414	0.0491	N	0.08118	0	0.09310	N	0.999999	B	0.14012	0.009	B	0.15052	0.012	T	0.16070	-1.0415	10	0.23302	T	0.38	-0.9997	6.4561	0.21930	0.5289:0.1327:0.3384:0.0	.	218	Q8TC99	FNDC8_HUMAN	T	218	ENSP00000158009:A218T	ENSP00000158009:A218T	A	+	1	0	FNDC8	30480620	0.418000	0.25440	0.000000	0.03702	0.004000	0.04260	0.040000	0.13905	-0.849000	0.04158	-1.263000	0.01449	GCC	.	.		0.527	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559	
GAST	2520	hgsc.bcm.edu	37	17	39871711	39871711	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:39871711T>C	ENST00000329402.3	+	2	90	c.23T>C	c.(22-24)gTg>gCg	p.V8A	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	8					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTGTGTATGTGCTGATCTTT	0.597																																					p.V8A		Atlas-SNP	.											.	GAST	13	.	0			c.T23C						.						274.0	270.0	271.0					17																	39871711		2203	4300	6503	SO:0001583	missense	2520	exon2			TGTATGTGCTGAT		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.23T>C	chr17.hg19:g.39871711T>C	ENSP00000331358:p.Val8Ala	45.0	0.0		36.0	19.0	NM_000805	P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	hg19	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635168	0.14322	.	.	ENSG00000184502	ENST00000329402	T	0.29655	1.56	4.41	-4.9	0.03094	Gastrin/cholecystokinin peptide hormone (1);	1.513610	0.03922	N	0.283756	T	0.32882	0.0844	M	0.67953	2.075	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31308	-0.9948	10	0.33940	T	0.23	-0.1986	13.0563	0.58982	0.0:0.6478:0.0:0.3522	.	8	P01350	GAST_HUMAN	A	8	ENSP00000331358:V8A	ENSP00000331358:V8A	V	+	2	0	GAST	37125237	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.762000	0.00785	-1.504000	0.01810	-2.033000	0.00422	GTG	.	.		0.597	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1		
TMUB2	79089	hgsc.bcm.edu	37	17	42271987	42271987	+	IGR	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:42271987T>A	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S265C|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S272C			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGGGCCTGGCTGTCAGTCATG	0.542																																					p.S272C		Atlas-SNP	.											.	ATXN7L3	31	.	0			c.A814T						.						45.0	48.0	47.0					17																	42271987		1970	4156	6126	SO:0001628	intergenic_variant	56970	exon11			CCTGGCTGTCAGT		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			chr17.hg19:g.42271987T>A		59.0	0.0		42.0	14.0	NM_020218	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	hg19	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.063041	0.55432	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	5.05	2.86	0.33363	.	0.108957	0.64402	D	0.000007	T	0.39937	0.1097	N	0.14661	0.345	0.38280	D	0.942413	D;D	0.61697	0.983;0.99	P;P	0.55824	0.615;0.785	T	0.36578	-0.9742	9	0.49607	T	0.09	.	7.2608	0.26201	0.0:0.2526:0.0:0.7474	.	265;272	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	C	272;265;47	.	ENSP00000374035:S265C	S	-	1	0	ATXN7L3	39627513	1.000000	0.71417	0.996000	0.52242	0.736000	0.42039	1.776000	0.38594	0.428000	0.26173	-0.250000	0.11733	AGC	.	.		0.542	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441	
COL1A1	1277	hgsc.bcm.edu	37	17	48263006	48263006	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:48263006G>C	ENST00000225964.5	-	51	4370	c.4252C>G	c.(4252-4254)Cac>Gac	p.H1418D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1418	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	GCTCCGGTGTGACTCTGGGGT	0.617			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.H1418D		Atlas-SNP	.		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	COL1A1	158	.	0			c.C4252G						.						70.0	61.0	64.0					17																	48263006		2203	4300	6503	SO:0001583	missense	1277	exon51			CGGTGTGACTCTG	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.4252C>G	chr17.hg19:g.48263006G>C	ENSP00000225964:p.His1418Asp	89.0	0.0		66.0	12.0	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	hg19	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753554	0.49362	.	.	ENSG00000108821	ENST00000225964	T	0.72942	-0.7	4.49	4.49	0.54785	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.89287	3.02	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.89206	0.3561	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:1.0:0.0	.	1418	P02452	CO1A1_HUMAN	D	1418	ENSP00000225964:H1418D	ENSP00000225964:H1418D	H	-	1	0	COL1A1	45618005	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.720000	0.84759	2.333000	0.79357	0.313000	0.20887	CAC	.	.		0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
CACNA1G	8913	hgsc.bcm.edu	37	17	48653340	48653340	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:48653340C>G	ENST00000359106.5	+	8	1577	c.1577C>G	c.(1576-1578)gCc>gGc	p.A526G	CACNA1G_ENST00000358244.5_Missense_Mutation_p.A526G|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A526G|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A526G|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A526G|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A526G|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A526G|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A526G|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A526G|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A526G|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A526G|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A526G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	526					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACAGGGATGCCAATGGGTCC	0.692																																					p.A526G		Atlas-SNP	.											.	CACNA1G	659	.	0			c.C1577G						.						11.0	19.0	16.0					17																	48653340		1942	4094	6036	SO:0001583	missense	8913	exon8			GGGATGCCAATGG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1577C>G	chr17.hg19:g.48653340C>G	ENSP00000352011:p.Ala526Gly	97.0	0.0		88.0	7.0	NM_001256360	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944535	0.53079	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96774	-3.98;-3.98;-4.12;-3.93;-3.98;-3.99;-4.0;-4.08;-4.05;-4.06;-4.07;-3.94;-3.95;-4.02;-3.96;-3.93;-4.0;-3.96;-3.94;-4.0;-3.98;-3.95;-3.99;-3.94;-4.0;-4.0	5.42	5.42	0.78866	.	0.615791	0.17391	N	0.175909	D	0.97052	0.9037	L	0.42245	1.32	0.44825	D	0.997837	D;B;P;D;B;D;D;B;D;B;B;P;B;B;D;B;D;P;B;B;D;B;B;B;B;D	0.76494	0.995;0.001;0.875;0.992;0.354;0.99;0.996;0.227;0.989;0.002;0.007;0.486;0.001;0.349;0.998;0.001;0.997;0.763;0.354;0.349;0.994;0.354;0.349;0.001;0.231;0.999	D;B;B;D;B;P;D;B;P;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.77004	0.978;0.005;0.377;0.989;0.146;0.625;0.986;0.101;0.868;0.004;0.006;0.333;0.005;0.108;0.986;0.001;0.91;0.21;0.146;0.079;0.97;0.138;0.114;0.001;0.039;0.958	D	0.95557	0.8626	10	0.22109	T	0.4	.	19.2315	0.93842	0.0:1.0:0.0:0.0	.	526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526;526	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	G	526	ENSP00000353990:A526G;ENSP00000339302:A526G;ENSP00000392390:A526G;ENSP00000347078:A526G;ENSP00000409759:A526G;ENSP00000425522:A526G;ENSP00000426261:A526G;ENSP00000425451:A526G;ENSP00000422407:A526G;ENSP00000426814:A526G;ENSP00000427238:A526G;ENSP00000423112:A526G;ENSP00000420918:A526G;ENSP00000426172:A526G;ENSP00000423045:A526G;ENSP00000427173:A526G;ENSP00000426098:A526G;ENSP00000425698:A526G;ENSP00000426232:A526G;ENSP00000423317:A526G;ENSP00000350979:A526G;ENSP00000352011:A526G;ENSP00000414388:A526G;ENSP00000423155:A526G;ENSP00000422268:A526G;ENSP00000421518:A526G	ENSP00000339302:A526G	A	+	2	0	CACNA1G	46008339	0.991000	0.36638	0.996000	0.52242	0.923000	0.55619	5.315000	0.65810	2.552000	0.86080	0.655000	0.94253	GCC	.	.		0.692	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
MFSD11	79157	hgsc.bcm.edu	37	17	74737121	74737121	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:74737121A>C	ENST00000588460.1	+	3	2277	c.235A>C	c.(235-237)Atg>Ctg	p.M79L	MFSD11_ENST00000593181.1_Missense_Mutation_p.M79L|MFSD11_ENST00000590514.1_Missense_Mutation_p.M79L|MFSD11_ENST00000355954.3_Missense_Mutation_p.M79L|MFSD11_ENST00000336509.4_Missense_Mutation_p.M79L|MFSD11_ENST00000586622.1_Missense_Mutation_p.M79L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	79						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TCAACTCTCTATGTTTGCCAG	0.373																																					p.M79L		Atlas-SNP	.											.	MFSD11	47	.	0			c.A235C						.						224.0	207.0	213.0					17																	74737121		2203	4300	6503	SO:0001583	missense	79157	exon4			CTCTCTATGTTTG	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.235A>C	chr17.hg19:g.74737121A>C	ENSP00000464932:p.Met79Leu	87.0	0.0		59.0	29.0	NM_001242536	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	hg19	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430840	0.62844	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.76968	-1.06;-1.06	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.071084	0.85682	D	0.000000	T	0.70064	0.3181	L	0.31526	0.94	0.80722	D	1	B;B	0.18741	0.03;0.024	B;B	0.26517	0.012;0.07	T	0.64689	-0.6348	10	0.31617	T	0.26	-31.2459	16.1429	0.81539	1.0:0.0:0.0:0.0	.	79;79	O43934-2;O43934	.;MFS11_HUMAN	L	79	ENSP00000337240:M79L;ENSP00000348225:M79L	ENSP00000337240:M79L	M	+	1	0	MFSD11	72248716	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.757000	0.68766	2.209000	0.71365	0.460000	0.39030	ATG	.	.		0.373	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	
CEP131	22994	hgsc.bcm.edu	37	17	79167868	79167868	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:79167868T>A	ENST00000269392.4	-	18	2435	c.2188A>T	c.(2188-2190)Aag>Tag	p.K730*	AZI1_ENST00000374782.3_Nonsense_Mutation_p.K727*|AZI1_ENST00000450824.2_Nonsense_Mutation_p.K727*|AZI1_ENST00000575907.1_Nonsense_Mutation_p.K730*	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		730					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCAGGCTCTTGAGCCTCCGC	0.682																																					p.K727X		Atlas-SNP	.											.	AZI1	145	.	0			c.A2179T						.						16.0	18.0	17.0					17																	79167868		2192	4298	6490	SO:0001587	stop_gained	22994	exon18			GGCTCTTGAGCCT																												ENST00000269392.4:c.2188A>T	chr17.hg19:g.79167868T>A	ENSP00000269392:p.Lys730*	157.0	0.0		133.0	6.0	NM_014984	A6NHI8|B2RN11|Q96F50	Nonsense_Mutation	SNP	ENST00000269392.4	hg19		.	.	.	.	.	.	.	.	.	.	T	20.8	4.049475	0.75846	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	.	.	.	3.66	-0.274	0.12910	.	0.194661	0.41712	D	0.000823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1238	11.0905	0.48113	0.0:0.0:0.4607:0.5393	.	.	.	.	X	727;727;730	.	ENSP00000269392:K730X	K	-	1	0	AZI1	76782463	0.978000	0.34361	0.013000	0.15412	0.352000	0.29268	1.079000	0.30766	-0.303000	0.08856	-0.460000	0.05396	AAG	.	.		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		
SMCHD1	23347	hgsc.bcm.edu	37	18	2762178	2762178	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr18:2762178A>T	ENST00000320876.6	+	36	4848	c.4510A>T	c.(4510-4512)Aat>Tat	p.N1504Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1504Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1504					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCTGTTTCAAATGTTCGCTC	0.383																																					p.N1504Y		Atlas-SNP	.											.	SMCHD1	88	.	0			c.A4510T						.						174.0	164.0	167.0					18																	2762178		1859	4098	5957	SO:0001583	missense	23347	exon36			GTTTCAAATGTTC	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4510A>T	chr18.hg19:g.2762178A>T	ENSP00000326603:p.Asn1504Tyr	177.0	0.0		181.0	51.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850996	0.71719	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26957	1.7;1.71	5.34	5.34	0.76211	.	0.100087	0.64402	D	0.000003	T	0.47488	0.1448	L	0.58669	1.825	0.41222	D	0.98651	D	0.71674	0.998	D	0.80764	0.994	T	0.45352	-0.9267	10	0.52906	T	0.07	-26.9511	15.3144	0.74062	1.0:0.0:0.0:0.0	.	1504	A6NHR9	SMHD1_HUMAN	Y	1504	ENSP00000326603:N1504Y;ENSP00000261598:N1504Y	ENSP00000261598:N1504Y	N	+	1	0	SMCHD1	2752178	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.702000	0.74628	2.016000	0.59253	0.528000	0.53228	AAT	.	.		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
ASXL3	80816	hgsc.bcm.edu	37	18	31319940	31319940	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr18:31319940A>G	ENST00000269197.5	+	11	2572	c.2572A>G	c.(2572-2574)Act>Gct	p.T858A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	858					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTGCTTCTACTGAAATGAT	0.388																																					p.T858A		Atlas-SNP	.											.	ASXL3	405	.	0			c.A2572G						.						72.0	72.0	72.0					18																	31319940		1864	4104	5968	SO:0001583	missense	80816	exon11			GCTTCTACTGAAA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2572A>G	chr18.hg19:g.31319940A>G	ENSP00000269197:p.Thr858Ala	115.0	0.0		101.0	45.0	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	hg19	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.401316	0.01165	.	.	ENSG00000141431	ENST00000269197	T	0.13778	2.56	6.04	-2.73	0.05950	.	1.744750	0.02847	N	0.128633	T	0.08492	0.0211	N	0.19112	0.55	0.19775	N	0.999952	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	10	0.23302	T	0.38	.	4.9813	0.14166	0.2835:0.3593:0.2894:0.0678	.	858	Q9C0F0	ASXL3_HUMAN	A	858	ENSP00000269197:T858A	ENSP00000269197:T858A	T	+	1	0	ASXL3	29573938	0.982000	0.34865	0.581000	0.28614	0.071000	0.16799	0.216000	0.17585	-1.366000	0.02155	-1.450000	0.01041	ACT	.	.		0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ZNF396	252884	hgsc.bcm.edu	37	18	32953553	32953553	+	Silent	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr18:32953553T>C	ENST00000589332.1	-	3	560	c.429A>G	c.(427-429)ggA>ggG	p.G143G	ZNF396_ENST00000586687.1_Silent_p.G143G|ZNF396_ENST00000306346.1_Silent_p.G143G			Q96N95	ZN396_HUMAN	zinc finger protein 396	143					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTTCCTTCGTCCAAAAAAGA	0.433																																					p.G143G		Atlas-SNP	.											.	ZNF396	28	.	0			c.A429G						.						81.0	72.0	75.0					18																	32953553		2203	4300	6503	SO:0001819	synonymous_variant	252884	exon3			CCTTCGTCCAAAA	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.429A>G	chr18.hg19:g.32953553T>C		73.0	0.0		72.0	4.0	NM_145756	A1L3V0|Q8NF98|Q8TD80	Silent	SNP	ENST00000589332.1	hg19																																																																																				.	.		0.433	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756	
EPG5	57724	hgsc.bcm.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr18:43497668T>A	ENST00000282041.5	-	17	3249	c.3215A>T	c.(3214-3216)cAg>cTg	p.Q1072L	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428																																					p.Q1072L		Atlas-SNP	.											EPG5,NS,carcinoma,0,1	EPG5	199	.	0			c.A3215T						.						172.0	159.0	163.0					18																	43497668		1880	4118	5998	SO:0001583	missense	57724	exon17			TAATACTGGCAAG	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3215A>T	chr18.hg19:g.43497668T>A	ENSP00000282041:p.Gln1072Leu	196.0	0.0		174.0	72.0	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924156	0.52653	.	.	ENSG00000152223	ENST00000282041	T	0.10573	2.86	5.4	5.4	0.78164	.	1.079280	0.06987	N	0.820984	T	0.27419	0.0673	L	0.59436	1.845	0.46954	D	0.999262	D;D	0.56035	0.974;0.974	P;P	0.53861	0.736;0.736	T	0.00422	-1.1749	10	0.54805	T	0.06	-15.201	15.712	0.77635	0.0:0.0:0.0:1.0	.	1072;1072	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	1072	ENSP00000282041:Q1072L	ENSP00000282041:Q1072L	Q	-	2	0	EPG5	41751666	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.489000	0.53237	2.178000	0.69098	0.533000	0.62120	CAG	.	.		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
KEAP1	9817	hgsc.bcm.edu	37	19	10610421	10610421	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:10610421T>A	ENST00000171111.5	-	2	836	c.289A>T	c.(289-291)Aag>Tag	p.K97*	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.K97*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGCACCACCTTGTGGGCCATG	0.612																																					p.K97X		Atlas-SNP	.											.	KEAP1	182	.	0			c.A289T						.						81.0	64.0	70.0					19																	10610421		2203	4300	6503	SO:0001587	stop_gained	9817	exon2			CCACCTTGTGGGC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.289A>T	chr19.hg19:g.10610421T>A	ENSP00000171111:p.Lys97*	90.0	0.0		48.0	36.0	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Nonsense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	37	6.132171	0.97310	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0934	0.53739	0.0:0.0:0.0:1.0	.	.	.	.	X	97	.	ENSP00000171111:K97X	K	-	1	0	KEAP1	10471421	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.331000	0.52075	1.756000	0.51951	0.379000	0.24179	AAG	.	.		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
YIPF2	78992	hgsc.bcm.edu	37	19	11034009	11034009	+	Missense_Mutation	SNP	G	G	C	rs151256467	byFrequency	TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:11034009G>C	ENST00000586748.1	-	9	1081	c.909C>G	c.(907-909)atC>atG	p.I303M	YIPF2_ENST00000590329.1_Missense_Mutation_p.I264M|YIPF2_ENST00000253031.2_Missense_Mutation_p.I303M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	303						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GGGACAGCGCGATGTTTGAGG	0.627																																					p.I303M		Atlas-SNP	.											YIPF2,bladder,carcinoma,0,1	YIPF2	13	.	0			c.C909G						.						158.0	154.0	155.0					19																	11034009		2203	4300	6503	SO:0001583	missense	78992	exon9			CAGCGCGATGTTT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.909C>G	chr19.hg19:g.11034009G>C	ENSP00000466055:p.Ile303Met	108.0	0.0		65.0	34.0	NM_024029		Missense_Mutation	SNP	ENST00000586748.1	hg19	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816577	0.16607	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.48	-8.95	0.00765	.	4.078650	0.00397	N	0.000042	T	0.17619	0.0423	N	0.22421	0.69	0.09310	N	1	B	0.29716	0.255	B	0.20384	0.029	T	0.06534	-1.0821	9	0.29301	T	0.29	-21.9981	4.0341	0.09722	0.0909:0.3705:0.3725:0.1662	.	303	Q9BWQ6	YIPF2_HUMAN	M	303	.	ENSP00000253031:I303M	I	-	3	3	YIPF2	10895009	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.927000	0.00690	-2.032000	0.00926	-0.271000	0.10264	ATC	.	G|1.000;A|0.000		0.627	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029	
RFX1	5989	hgsc.bcm.edu	37	19	14104453	14104453	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:14104453G>A	ENST00000254325.4	-	2	437	c.203C>T	c.(202-204)cCg>cTg	p.P68L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	68					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGGCCACCCGGTggctgtgc	0.706																																					p.P68L		Atlas-SNP	.											.	RFX1	63	.	0			c.C203T						.						23.0	19.0	20.0					19																	14104453		2201	4298	6499	SO:0001583	missense	5989	exon2			CCACCCGGTGGCT		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.203C>T	chr19.hg19:g.14104453G>A	ENSP00000254325:p.Pro68Leu	123.0	0.0		105.0	7.0	NM_002918		Missense_Mutation	SNP	ENST00000254325.4	hg19	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382794	0.82792	.	.	ENSG00000132005	ENST00000254325	T	0.65178	-0.14	5.17	5.17	0.71159	.	0.379500	0.22255	N	0.062499	T	0.52158	0.1717	L	0.27053	0.805	0.41730	D	0.989554	D	0.54207	0.965	B	0.42087	0.375	T	0.60510	-0.7249	10	0.66056	D	0.02	-24.3835	15.9534	0.79861	0.0:0.0:1.0:0.0	.	68	P22670	RFX1_HUMAN	L	68	ENSP00000254325:P68L	ENSP00000254325:P68L	P	-	2	0	RFX1	13965453	0.943000	0.32029	0.860000	0.33809	0.979000	0.70002	2.812000	0.47994	2.578000	0.87016	0.650000	0.86243	CCG	.	.		0.706	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	
SYDE1	85360	hgsc.bcm.edu	37	19	15221086	15221086	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:15221086T>A	ENST00000342784.2	+	3	1033	c.1002T>A	c.(1000-1002)ctT>ctA	p.L334L	SYDE1_ENST00000600440.1_Silent_p.L267L|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	334					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCCTGGTGCTTGCGTGGGACC	0.716																																					p.L334L		Atlas-SNP	.											.	SYDE1	44	.	0			c.T1002A						.						6.0	9.0	8.0					19																	15221086		1927	3674	5601	SO:0001819	synonymous_variant	85360	exon3			GGTGCTTGCGTGG	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1002T>A	chr19.hg19:g.15221086T>A		46.0	0.0		51.0	16.0	NM_033025	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	hg19	CCDS12324.1																																																																																			.	.		0.716	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	
RYR1	6261	hgsc.bcm.edu	37	19	38973749	38973749	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:38973749A>T	ENST00000359596.3	+	32	4703	c.4703A>T	c.(4702-4704)cAg>cTg	p.Q1568L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q1568L|RYR1_ENST00000355481.4_Missense_Mutation_p.Q1568L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1568	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	CTGGGGAAGCAGAAGGTACAA	0.602																																					p.Q1568L		Atlas-SNP	.											.	RYR1	708	.	0			c.A4703T						.						136.0	104.0	115.0					19																	38973749		2203	4300	6503	SO:0001583	missense	6261	exon32			GGAAGCAGAAGGT	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.4703A>T	chr19.hg19:g.38973749A>T	ENSP00000352608:p.Gln1568Leu	85.0	0.0		78.0	35.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.442264	0.25987	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.68624	-0.34;-0.34;-0.34	4.33	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.350892	0.21765	U	0.069444	T	0.24236	0.0587	N	0.00170	-1.935	0.31756	N	0.633958	B;B	0.09022	0.002;0.002	B;B	0.12156	0.001;0.007	T	0.25433	-1.0132	10	0.16420	T	0.52	.	9.1032	0.36681	0.3038:0.0:0.0:0.6962	.	1568;1568	P21817-2;P21817	.;RYR1_HUMAN	L	1568	ENSP00000352608:Q1568L;ENSP00000347667:Q1568L;ENSP00000354254:Q1568L	ENSP00000347667:Q1568L	Q	+	2	0	RYR1	43665589	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	4.262000	0.58847	0.181000	0.19994	0.379000	0.24179	CAG	.	.		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
DEDD2	162989	hgsc.bcm.edu	37	19	42713986	42713986	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:42713986G>A	ENST00000595337.1	-	4	542	c.455C>T	c.(454-456)cCc>cTc	p.P152L	DEDD2_ENST00000598727.1_Missense_Mutation_p.P152L|DEDD2_ENST00000596251.1_Missense_Mutation_p.P152L|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.P147L	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	152					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTTGGTTGGGGGGGAGCCTGA	0.657																																					p.P152L		Atlas-SNP	.											.	DEDD2	16	.	0			c.C455T						.						14.0	17.0	16.0					19																	42713986		1976	3972	5948	SO:0001583	missense	162989	exon4			GTTGGGGGGGAGC	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.455C>T	chr19.hg19:g.42713986G>A	ENSP00000470082:p.Pro152Leu	111.0	0.0		96.0	37.0	NM_133328	Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	hg19	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895665	0.52121	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	3.81	0.43845	.	0.521378	0.20537	N	0.090382	T	0.22551	0.0544	N	0.08118	0	0.28696	N	0.904337	P;P	0.44659	0.84;0.753	P;B	0.47206	0.541;0.339	T	0.03493	-1.1031	9	0.20519	T	0.43	-23.0781	9.6457	0.39865	0.0:0.2132:0.7868:0.0	.	147;152	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	L	152	.	ENSP00000336972:P152L	P	-	2	0	DEDD2	47405826	0.321000	0.24625	0.876000	0.34364	0.763000	0.43281	0.743000	0.26231	2.426000	0.82243	0.467000	0.42956	CCC	.	.		0.657	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328	
ZNF226	7769	hgsc.bcm.edu	37	19	44674186	44674186	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:44674186A>T	ENST00000590089.1	+	4	321		c.e4-1		ZNF226_ENST00000588742.1_Splice_Site|ZNF226_ENST00000589160.1_Splice_Site|ZNF226_ENST00000413984.2_Splice_Site|ZNF226_ENST00000337433.5_Splice_Site|ZNF226_ENST00000588883.1_Splice_Site|ZNF226_ENST00000454662.2_Splice_Site|ZNF226_ENST00000588795.1_Splice_Site|ZNF226_ENST00000300823.6_Splice_Site			Q9NYT6	ZN226_HUMAN	zinc finger protein 226						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)						Prostate(69;0.0352)|all_neural(266;0.202)				CTTCTTTCCTAGTTCAGCTTC	0.418																																					.	Pancreas(115;581 1665 13228 19278 50070)	Atlas-SNP	.											.	.	.	.	0			.						.						64.0	64.0	64.0					19																	44674186		1893	4123	6016	SO:0001630	splice_region_variant	7769	.			TTTCCTAGTTCAG	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.-46-1A>T	chr19.hg19:g.44674186A>T		73.0	0.0		60.0	30.0	.	Q8WWE6|Q96TE6|Q9NS44	Splice_Site	SNP	ENST00000590089.1	hg19	CCDS46102.1																																																																																			.	.		0.418	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1		Intron
ZNF285	26974	hgsc.bcm.edu	37	19	44891202	44891202	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:44891202C>G	ENST00000330997.4	-	4	1269	c.1205G>C	c.(1204-1206)tGc>tCc	p.C402S	ZNF285_ENST00000591679.1_Missense_Mutation_p.C409S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.C402S	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	53.0	1.0		47.0	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-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:44891217T>C	ENST00000330997.4	-	4	1254	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G	ZNF285_ENST00000591679.1_Missense_Mutation_p.E404G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E397G	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	52.0	0.0		45.0	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	
EXOC3L2	90332	hgsc.bcm.edu	37	19	45731442	45731442	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:45731442A>T	ENST00000252482.3	-	2	200	c.173T>A	c.(172-174)cTg>cAg	p.L58Q	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.L58Q			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	58					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCTGGGCCAGGCTGCTGGG	0.657																																					p.L58Q		Atlas-SNP	.											.	EXOC3L2	30	.	0			c.T173A						.						108.0	109.0	109.0					19																	45731442		2203	4300	6503	SO:0001583	missense	90332	exon3			TGGGCCAGGCTGC	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.173T>A	chr19.hg19:g.45731442A>T	ENSP00000252482:p.Leu58Gln	125.0	0.0		85.0	34.0	NM_138568	Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	hg19	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439540	0.63067	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.07688	3.17;3.17	4.89	4.89	0.63831	.	0.000000	0.53938	D	0.000057	T	0.23846	0.0577	M	0.64997	1.995	0.33454	D	0.584075	D	0.89917	1.0	D	0.97110	1.0	T	0.26360	-1.0105	10	0.52906	T	0.07	.	10.8643	0.46844	1.0:0.0:0.0:0.0	.	58	Q2M3D2	EX3L2_HUMAN	Q	58	ENSP00000252482:L58Q;ENSP00000400713:L58Q	ENSP00000252482:L58Q	L	-	2	0	EXOC3L2	50423282	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	4.999000	0.63934	1.836000	0.53414	0.254000	0.18369	CTG	.	.		0.657	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568	
IGFL1	374918	hgsc.bcm.edu	37	19	46733033	46733033	+	Start_Codon_SNP	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:46733033T>A	ENST00000437936.1	+	1	25	c.2T>A	c.(1-3)aTg>aAg	p.M1K	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	1						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CCCAGAGCCATGGCTCCCCGA	0.567																																					p.M1K		Atlas-SNP	.											.	IGFL1	10	.	0			c.T2A						.						58.0	68.0	65.0					19																	46733033		2053	4194	6247	SO:0001582	initiator_codon_variant	374918	exon1			GAGCCATGGCTCC	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.2T>A	chr19.hg19:g.46733033T>A	ENSP00000415823:p.Met1Lys	83.0	0.0		70.0	31.0	NM_198541		Missense_Mutation	SNP	ENST00000437936.1	hg19	CCDS46123.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025971	0.35701	.	.	ENSG00000188293	ENST00000437936	T	0.25085	1.82	2.01	2.01	0.26516	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.34625	-0.9821	8	0.87932	D	0	-13.771	6.0172	0.19608	0.0:0.0:0.0:1.0	.	1	Q6UW32	IGFL1_HUMAN	K	1	ENSP00000415823:M1K	ENSP00000415823:M1K	M	+	2	0	IGFL1	51424873	0.011000	0.17503	0.033000	0.17914	0.005000	0.04900	0.171000	0.16685	1.162000	0.42619	0.374000	0.22700	ATG	.	.		0.567	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1	NM_198541	Missense_Mutation
DKKL1	27120	hgsc.bcm.edu	37	19	49868854	49868854	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:49868854A>T	ENST00000221498.2	+	3	677	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	91					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)		GAGGAGAACCAGGAGCACCAG	0.607																																					p.Q91L		Atlas-SNP	.											.	DKKL1	23	.	0			c.A272T						.						91.0	82.0	85.0					19																	49868854		2203	4300	6503	SO:0001583	missense	27120	exon3			AGAACCAGGAGCA	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.272A>T	chr19.hg19:g.49868854A>T	ENSP00000221498:p.Gln91Leu	88.0	0.0		78.0	38.0	NM_014419		Missense_Mutation	SNP	ENST00000221498.2	hg19	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785406	0.70337	.	.	ENSG00000104901	ENST00000221498	T	0.12361	2.69	4.85	2.59	0.31030	.	0.000000	0.38959	N	0.001517	T	0.10208	0.0250	L	0.46157	1.445	0.31441	N	0.671943	P	0.40731	0.728	B	0.36186	0.219	T	0.11690	-1.0577	10	0.59425	D	0.04	-23.8153	4.6736	0.12701	0.7059:0.193:0.1012:0.0	.	91	Q9UK85	DKKL1_HUMAN	L	91	ENSP00000221498:Q91L	ENSP00000221498:Q91L	Q	+	2	0	DKKL1	54560666	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	0.615000	0.24329	0.808000	0.34231	0.459000	0.35465	CAG	.	.		0.607	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	
CCDC155	147872	hgsc.bcm.edu	37	19	49901341	49901341	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:49901341T>A	ENST00000447857.3	+	7	775	c.570T>A	c.(568-570)gcT>gcA	p.A190A		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	190						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGGAGACAGCTGAGGAGGGGT	0.632																																					p.A190A		Atlas-SNP	.											.	CCDC155	46	.	0			c.T570A						.						52.0	56.0	55.0					19																	49901341		2103	4223	6326	SO:0001819	synonymous_variant	147872	exon7			GACAGCTGAGGAG		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.570T>A	chr19.hg19:g.49901341T>A		151.0	0.0		116.0	51.0	NM_144688	Q96MC3	Silent	SNP	ENST00000447857.3	hg19	CCDS46140.1																																																																																			.	.		0.632	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688	
SIGLEC11	114132	hgsc.bcm.edu	37	19	50463581	50463581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr19:50463581A>T	ENST00000447370.2	-	3	648	c.558T>A	c.(556-558)tgT>tgA	p.C186*	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Nonsense_Mutation_p.C186*	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	186	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AAGGGGCTGGACATTTCTTGA	0.597																																					p.C186X		Atlas-SNP	.											.	SIGLEC11	70	.	0			c.T558A						.						13.0	21.0	18.0					19																	50463581		1979	4239	6218	SO:0001587	stop_gained	114132	exon3			GGCTGGACATTTC	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.558T>A	chr19.hg19:g.50463581A>T	ENSP00000412361:p.Cys186*	263.0	0.0		267.0	59.0	NM_052884		Nonsense_Mutation	SNP	ENST00000447370.2	hg19	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.78|17.78	3.473476|3.473476	0.63737|0.63737	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	.|.	.|.	.|.	3.28|3.28	-6.57|-6.57	0.01842|0.01842	.|.	0.226724|.	0.32055|.	N|.	0.006647|.	.|T	.|0.16981	.|0.0408	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21827	.|-1.0234	.|3	.|.	.|.	.|.	.|.	2.4926|2.4926	0.04614|0.04614	0.1868:0.2968:0.3908:0.1255|0.1868:0.2968:0.3908:0.1255	.|.	.|.	.|.	.|.	X|D	186|176	.|.	.|.	C|V	-|-	3|2	2|0	SIGLEC11|SIGLEC11	55155393|55155393	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-0.596000|-0.596000	0.05720|0.05720	-1.620000|-1.620000	0.01564|0.01564	0.459000|0.459000	0.35465|0.35465	TGT|GTC	.	.		0.597	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
DEFB129	140881	hgsc.bcm.edu	37	20	210384	210384	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:210384T>A	ENST00000246105.4	+	2	555	c.524T>A	c.(523-525)cTg>cAg	p.L175Q		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	175					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACACCATCACTGGAGCTAGAG	0.448																																					p.L175Q		Atlas-SNP	.											.	DEFB129	24	.	0			c.T524A						.						88.0	81.0	83.0					20																	210384		2203	4300	6503	SO:0001583	missense	140881	exon2			CATCACTGGAGCT	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.524T>A	chr20.hg19:g.210384T>A	ENSP00000246105:p.Leu175Gln	52.0	0.0		36.0	12.0	NM_080831	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	hg19	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703131	0.48412	.	.	ENSG00000125903	ENST00000246105	T	0.55234	0.53	4.39	-2.5	0.06384	.	2.100700	0.03031	N	0.152128	T	0.36248	0.0960	N	0.14661	0.345	0.09310	N	1	P	0.50617	0.937	B	0.43478	0.421	T	0.35525	-0.9785	10	0.87932	D	0	-0.0153	5.4593	0.16607	0.0:0.2882:0.4099:0.302	.	175	Q9H1M3	DB129_HUMAN	Q	175	ENSP00000246105:L175Q	ENSP00000246105:L175Q	L	+	2	0	DEFB129	158384	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.895000	0.04118	-0.445000	0.07159	-0.371000	0.07208	CTG	.	.		0.448	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831	
PAK7	57144	hgsc.bcm.edu	37	20	9560941	9560941	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:9560941T>A	ENST00000378429.3	-	5	1387	c.841A>T	c.(841-843)Acc>Tcc	p.T281S	PAK7_ENST00000378423.1_Missense_Mutation_p.T281S|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.T281S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	281	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGCCGCATGGTGGGCTGAGGG	0.552																																					p.T281S		Atlas-SNP	.											.	PAK7	194	.	0			c.A841T						.						172.0	149.0	157.0					20																	9560941		2203	4300	6503	SO:0001583	missense	57144	exon4			GCATGGTGGGCTG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.841A>T	chr20.hg19:g.9560941T>A	ENSP00000367686:p.Thr281Ser	153.0	0.0		156.0	69.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	0.535	-0.856332	0.02630	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.29397	1.57;1.57;1.57	5.6	0.192	0.15134	.	0.313678	0.38436	N	0.001690	T	0.12433	0.0302	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.19148	0.024;0.002	T	0.31081	-0.9956	9	.	.	.	.	10.7354	0.46122	0.0:0.562:0.0:0.438	.	281;281	B0AZM9;Q9P286	.;PAK7_HUMAN	S	281;281;281;229	ENSP00000367686:T281S;ENSP00000322957:T281S;ENSP00000367679:T281S	.	T	-	1	0	PAK7	9508941	0.095000	0.21747	0.020000	0.16555	0.006000	0.05464	0.612000	0.24283	-0.191000	0.10448	-1.728000	0.00702	ACC	.	.		0.552	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
CFAP61	26074	hgsc.bcm.edu	37	20	20071622	20071622	+	Splice_Site	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:20071622T>A	ENST00000245957.5	+	7	775		c.e7+2		C20orf26_ENST00000451767.2_Splice_Site|C20orf26_ENST00000389656.3_Splice_Site|C20orf26_ENST00000377309.2_Splice_Site|C20orf26_ENST00000377306.1_Splice_Site	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN												NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTGTGTGAGGTCAGTGACTGA	0.493																																					.		Atlas-SNP	.											.	C20orf26	188	.	0			c.699+2T>A						.						180.0	154.0	163.0					20																	20071622		2203	4300	6503	SO:0001630	splice_region_variant	26074	exon7			GTGAGGTCAGTGA																												ENST00000245957.5:c.699+2T>A	chr20.hg19:g.20071622T>A		118.0	0.0		95.0	40.0	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Splice_Site	SNP	ENST00000245957.5	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.450777	0.63290	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6148	0.76756	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf26	20019622	1.000000	0.71417	0.981000	0.43875	0.689000	0.40095	6.128000	0.71650	2.086000	0.62901	0.533000	0.62120	.	.	.		0.493	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		Intron
CEP250	11190	hgsc.bcm.edu	37	20	34091356	34091356	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:34091356A>T	ENST00000397527.1	+	30	5879	c.5159A>T	c.(5158-5160)cAg>cTg	p.Q1720L	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1664L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1720	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGTAAAGCACAGCGCGGGAGC	0.567																																					p.Q1720L		Atlas-SNP	.											.	CEP250	141	.	0			c.A5159T						.						107.0	102.0	104.0					20																	34091356		2203	4300	6503	SO:0001583	missense	11190	exon30			AAGCACAGCGCGG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5159A>T	chr20.hg19:g.34091356A>T	ENSP00000380661:p.Gln1720Leu	141.0	0.0		113.0	41.0	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	0.078	-1.188487	0.01607	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.36340	3.25;3.22;1.26	4.66	4.66	0.58398	.	0.113936	0.38663	N	0.001617	T	0.22975	0.0555	N	0.20986	0.625	0.25662	N	0.986	B	0.22683	0.073	B	0.22880	0.042	T	0.11966	-1.0566	10	0.26408	T	0.33	.	9.2305	0.37434	0.7972:0.0:0.0:0.2028	.	1720	Q9BV73	CP250_HUMAN	L	1720;1664;208	ENSP00000380661:Q1720L;ENSP00000341541:Q1664L;ENSP00000395992:Q208L	ENSP00000341541:Q1664L	Q	+	2	0	CEP250	33554770	0.995000	0.38212	0.988000	0.46212	0.585000	0.36419	2.348000	0.44045	1.968000	0.57251	0.374000	0.22700	CAG	.	.		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
SPINT3	10816	hgsc.bcm.edu	37	20	44141486	44141486	+	Splice_Site	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:44141486T>A	ENST00000217428.6	-	2	92		c.e2-2			NM_006652.1	NP_006643.1	P49223	SPIT3_HUMAN	serine peptidase inhibitor, Kunitz type, 3							extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)	1						TGATAGTGTCTGAAGAGAGAA	0.483																																					.		Atlas-SNP	.											.	SPINT3	12	.	0			c.77-2A>T						.						79.0	65.0	70.0					20																	44141486		692	1591	2283	SO:0001630	splice_region_variant	10816	exon3			AGTGTCTGAAGAG	X77166	CCDS46608.1	20q12-q13.2	2012-08-20	2005-08-17		ENSG00000101446	ENSG00000101446			11248	protein-coding gene	gene with protein product		613941	"""serine protease inhibitor, Kunitz type, 3"""			21988899	Standard	NM_006652		Approved	HKIB9	uc010ghg.1	P49223	OTTHUMG00000032585	ENST00000217428.6:c.77-2A>T	chr20.hg19:g.44141486T>A		58.0	0.0		44.0	21.0	NM_006652	A6NCQ6|Q6UDR8|Q96KK2	Splice_Site	SNP	ENST00000217428.6	hg19	CCDS46608.1	.	.	.	.	.	.	.	.	.	.	T	7.706	0.694085	0.15039	.	.	ENSG00000101446	ENST00000217428	.	.	.	2.83	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1039	0.10028	0.1852:0.0:0.3395:0.4753	.	.	.	.	.	-1	.	.	.	-	.	.	SPINT3	43574900	0.016000	0.18221	0.000000	0.03702	0.320000	0.28249	0.522000	0.22909	-0.274000	0.09232	0.377000	0.23210	.	.	.		0.483	SPINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079464.5	NM_006652	Intron
ARFGAP1	55738	hgsc.bcm.edu	37	20	61916216	61916216	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:61916216A>T	ENST00000370283.4	+	10	857		c.e10-1		ARFGAP1_ENST00000519604.1_Splice_Site|ARFGAP1_ENST00000547204.1_Splice_Site|ARFGAP1_ENST00000519273.2_Splice_Site|ARFGAP1_ENST00000370275.4_Splice_Site|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Splice_Site	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCCTTCCTACAGGCGTCCGAG	0.647																																					.		Atlas-SNP	.											.	ARFGAP1	38	.	0			c.718-2A>T						.						81.0	63.0	69.0					20																	61916216		2203	4299	6502	SO:0001630	splice_region_variant	55738	exon10			TCCTACAGGCGTC	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.718-1A>T	chr20.hg19:g.61916216A>T		47.0	0.0		66.0	22.0	NM_018209	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Splice_Site	SNP	ENST00000370283.4	hg19	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783751	0.31593	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000519273;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.258	0.60089	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARFGAP1	61386661	1.000000	0.71417	0.990000	0.47175	0.106000	0.19336	5.494000	0.66905	1.961000	0.56991	0.379000	0.24179	.	.	.		0.647	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	Intron
COL20A1	57642	hgsc.bcm.edu	37	20	61943819	61943819	+	Silent	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:61943819T>A	ENST00000358894.6	+	15	1951	c.1851T>A	c.(1849-1851)tcT>tcA	p.S617S	COL20A1_ENST00000422202.1_Silent_p.S624S|COL20A1_ENST00000326996.6_Silent_p.S617S|COL20A1_ENST00000435874.1_Silent_p.S624S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCCTCTCTCTTCCTCCACCA	0.672																																					p.S617S		Atlas-SNP	.											.	COL20A1	137	.	0			c.T1851A						.						39.0	46.0	44.0					20																	61943819		2198	4297	6495	SO:0001819	synonymous_variant	57642	exon15			TCTCTCTTCCTCC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1851T>A	chr20.hg19:g.61943819T>A		48.0	0.0		56.0	19.0	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	hg19	CCDS46628.1																																																																																			.	.		0.672	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
TCEA2	6919	hgsc.bcm.edu	37	20	62701907	62701907	+	Silent	SNP	C	C	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:62701907C>T	ENST00000343484.5	+	8	907	c.738C>T	c.(736-738)caC>caT	p.H246H	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Silent_p.H219H|TCEA2_ENST00000395053.3_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	246	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCCGAGAGCACCAGATGGCCC	0.627																																					p.H246H		Atlas-SNP	.											.	TCEA2	22	.	0			c.C738T						.						48.0	49.0	49.0					20																	62701907		2203	4300	6503	SO:0001819	synonymous_variant	6919	exon8			AGAGCACCAGATG	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.738C>T	chr20.hg19:g.62701907C>T		233.0	0.0		230.0	70.0	NM_003195	B3KNM1|Q8TD37|Q8TD38	Silent	SNP	ENST00000343484.5	hg19	CCDS13553.1																																																																																			.	.		0.627	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723	
SLC7A4	6545	hgsc.bcm.edu	37	22	21384217	21384217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr22:21384217A>T	ENST00000382932.2	-	3	1473	c.1406T>A	c.(1405-1407)tTg>tAg	p.L469*	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Nonsense_Mutation_p.L469*	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	469					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTACCCATCCAAGAAGCCCAG	0.612																																					p.L469X		Atlas-SNP	.											.	SLC7A4	50	.	0			c.T1406A						.						44.0	38.0	40.0					22																	21384217		2203	4300	6503	SO:0001587	stop_gained	6545	exon3			CCATCCAAGAAGC	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1406T>A	chr22.hg19:g.21384217A>T	ENSP00000372390:p.Leu469*	93.0	0.0		81.0	29.0	NM_004173	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Nonsense_Mutation	SNP	ENST00000382932.2	hg19	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	A	37	6.443640	0.97572	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	.	.	.	5.46	5.46	0.80206	.	0.074728	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7984	0.63186	1.0:0.0:0.0:0.0	.	.	.	.	X	469	.	ENSP00000372390:L469X	L	-	2	0	SLC7A4	19714217	1.000000	0.71417	0.982000	0.44146	0.693000	0.40251	8.800000	0.91900	2.203000	0.70933	0.459000	0.35465	TTG	.	.		0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173	
CSF2RB	1439	hgsc.bcm.edu	37	22	37333867	37333867	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr22:37333867G>T	ENST00000403662.3	+	14	2239	c.2017G>T	c.(2017-2019)Ggc>Tgc	p.G673C	CSF2RB_ENST00000536485.1_Missense_Mutation_p.G620C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G679C|CSF2RB_ENST00000262825.5_Missense_Mutation_p.G679C			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	673					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCCGGGGGAGGCCCTGCCCC	0.677																																					p.G673C		Atlas-SNP	.											.	CSF2RB	104	.	0			c.G2017T						.						21.0	24.0	23.0					22																	37333867		2203	4295	6498	SO:0001583	missense	1439	exon14			GGGGGAGGCCCTG	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2017G>T	chr22.hg19:g.37333867G>T	ENSP00000384053:p.Gly673Cys	63.0	0.0		53.0	26.0	NM_000395	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	hg19	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134739	0.37728	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92048	-2.45;-2.96;-2.96;-2.96	4.79	-2.85	0.05734	.	1.881320	0.02481	N	0.088509	D	0.91710	0.7379	L	0.47716	1.5	0.09310	N	1	D;D	0.61697	0.988;0.99	P;P	0.55161	0.77;0.594	T	0.82008	-0.0670	10	0.87932	D	0	-1.1415	4.9664	0.14093	0.3549:0.2746:0.3706:0.0	.	679;673	P32927-2;P32927	.;IL3RB_HUMAN	C	673;673;679;679;620	ENSP00000384053:G673C;ENSP00000262825:G679C;ENSP00000385271:G679C;ENSP00000440003:G620C	ENSP00000262825:G679C	G	+	1	0	CSF2RB	35663813	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.143000	0.16115	-0.328000	0.08539	-0.312000	0.09012	GGC	.	.		0.677	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
LMF2	91289	hgsc.bcm.edu	37	22	50943406	50943406	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr22:50943406T>A	ENST00000474879.2	-	10	1277	c.1262A>T	c.(1261-1263)tAc>tTc	p.Y421F	LMF2_ENST00000216080.5_Missense_Mutation_p.Y396F|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Intron	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	421						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGTAGGAGTACGGCACCTG	0.687																																					p.Y421F		Atlas-SNP	.											.	LMF2	40	.	0			c.A1262T						.						24.0	27.0	26.0					22																	50943406		2199	4294	6493	SO:0001583	missense	91289	exon10			TAGGAGTACGGCA	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1262A>T	chr22.hg19:g.50943406T>A	ENSP00000424381:p.Tyr421Phe	147.0	0.0		105.0	36.0	NM_033200	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	hg19	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997406	0.54147	.	.	ENSG00000100258	ENST00000474879;ENST00000216080	T;T	0.21734	1.99;1.99	4.84	4.84	0.62591	.	0.073989	0.56097	D	0.000028	T	0.15825	0.0381	L	0.28115	0.83	0.80722	D	1	B;B	0.16802	0.003;0.019	B;B	0.18871	0.018;0.023	T	0.04333	-1.0959	10	0.37606	T	0.19	-0.2525	12.365	0.55224	0.0:0.0:0.0:1.0	.	421;396	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	F	421;396	ENSP00000424381:Y421F;ENSP00000216080:Y396F	ENSP00000216080:Y396F	Y	-	2	0	LMF2	49290272	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	4.096000	0.57734	1.805000	0.52779	0.528000	0.53228	TAC	.	.		0.687	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200	
MXRA5	25878	hgsc.bcm.edu	37	X	3241470	3241470	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chrX:3241470T>A	ENST00000217939.6	-	5	2410	c.2256A>T	c.(2254-2256)aaA>aaT	p.K752N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	752						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCTGGTTCTTTTTCCGAAT	0.443																																					p.K752N		Atlas-SNP	.											.	MXRA5	815	.	0			c.A2256T						.						107.0	91.0	96.0					X																	3241470		2203	4300	6503	SO:0001583	missense	25878	exon5			TGGTTCTTTTTCC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2256A>T	chrX.hg19:g.3241470T>A	ENSP00000217939:p.Lys752Asn	65.0	0.0		62.0	51.0	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	11.97	1.796657	0.31777	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-1.63	0.08345	.	0.354042	0.20155	U	0.098076	T	0.44603	0.1301	N	0.24115	0.695	0.09310	N	1	P	0.43477	0.808	B	0.36567	0.228	T	0.43829	-0.9367	10	0.56958	D	0.05	.	9.3214	0.37966	0.0:0.2632:0.0:0.7368	.	752	Q9NR99	MXRA5_HUMAN	N	752	ENSP00000217939:K752N	ENSP00000217939:K752N	K	-	3	2	MXRA5	3251470	0.000000	0.05858	0.002000	0.10522	0.110000	0.19582	-0.018000	0.12568	-0.316000	0.08690	0.430000	0.28490	AAA	.	.		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
GPM6B	2824	hgsc.bcm.edu	37	X	13803759	13803759	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chrX:13803759T>A	ENST00000356942.5	-	2	671	c.230A>T	c.(229-231)cAt>cTt	p.H77L	GPM6B_ENST00000454189.2_Missense_Mutation_p.H58L|GPM6B_ENST00000316715.4_Missense_Mutation_p.H117L|GPM6B_ENST00000493677.1_Missense_Mutation_p.H91L|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.H117L	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	77					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						CAGCAAGGCATGGTCACTGGC	0.567																																					p.H117L		Atlas-SNP	.											.	GPM6B	46	.	0			c.A350T						.						80.0	71.0	74.0					X																	13803759		2203	4300	6503	SO:0001583	missense	2824	exon3			AAGGCATGGTCAC		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.230A>T	chrX.hg19:g.13803759T>A	ENSP00000349420:p.His77Leu	250.0	0.0		216.0	191.0	NM_001001995	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	hg19	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435475	0.62955	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.63428	1.95	0.80722	D	1	B;B;P;P;B;B	0.38395	0.009;0.123;0.629;0.58;0.011;0.019	B;B;B;B;B;B	0.40982	0.022;0.117;0.345;0.228;0.015;0.034	D	0.98824	1.0748	10	0.23302	T	0.38	-15.127	15.1934	0.73063	0.0:0.0:0.0:1.0	.	91;58;77;117;69;117	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	L	117;58;91;117;77;77	ENSP00000316861:H117L;ENSP00000389915:H58L;ENSP00000419904:H91L;ENSP00000347258:H117L;ENSP00000349420:H77L;ENSP00000418594:H77L	ENSP00000316861:H117L	H	-	2	0	GPM6B	13713680	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.557000	0.82243	1.971000	0.57363	0.486000	0.48141	CAT	.	.		0.567	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995	
GRPR	2925	hgsc.bcm.edu	37	X	16170727	16170727	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chrX:16170727A>T	ENST00000380289.2	+	3	1512	c.1114A>T	c.(1114-1116)Agc>Tgc	p.S372C	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	372					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGCCACCTTTAGCCTCATCAA	0.537																																					p.S372C		Atlas-SNP	.											.	GRPR	51	.	0			c.A1114T						.						167.0	155.0	159.0					X																	16170727		2203	4300	6503	SO:0001583	missense	2925	exon3			ACCTTTAGCCTCA		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1114A>T	chrX.hg19:g.16170727A>T	ENSP00000369643:p.Ser372Cys	83.0	0.0		68.0	53.0	NM_005314	B2R910	Missense_Mutation	SNP	ENST00000380289.2	hg19	CCDS14174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.782386|4.782386	0.90282|0.90282	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000380289|ENST00000535371	T|.	0.67171|.	-0.25|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.329161|.	0.34853|.	N|.	0.003635|.	T|.	0.73783|.	0.3631|.	M|M	0.74258|0.74258	2.255|2.255	0.54753|0.54753	D|D	0.999984|0.999984	D|.	0.69078|.	0.997|.	P|.	0.56865|.	0.808|.	T|.	0.74589|.	-0.3615|.	10|.	0.72032|.	D|.	0.01|.	-28.3464|-28.3464	13.9157|13.9157	0.63895|0.63895	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	372|.	P30550|.	GRPR_HUMAN|.	C|L	372|160	ENSP00000369643:S372C|.	ENSP00000369643:S372C|.	S|X	+|+	1|2	0|0	GRPR|GRPR	16080648|16080648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.560000|5.560000	0.67332|0.67332	1.883000|1.883000	0.54544|0.54544	0.486000|0.486000	0.48141|0.48141	AGC|TAG	.	.		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
CYLC1	1538	hgsc.bcm.edu	37	X	83128059	83128059	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chrX:83128059T>C	ENST00000329312.4	+	4	380	c.343T>C	c.(343-345)Tat>Cat	p.Y115H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAAGCAGAATATAAAAAGTC	0.368																																					p.Y115H		Atlas-SNP	.											.	CYLC1	272	.	0			c.T343C						.						32.0	30.0	31.0					X																	83128059		2197	4291	6488	SO:0001583	missense	1538	exon4			GCAGAATATAAAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.343T>C	chrX.hg19:g.83128059T>C	ENSP00000331556:p.Tyr115His	326.0	1.0		256.0	221.0	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	2.934	-0.220312	0.06061	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.43294	0.95	4.53	-4.11	0.03928	.	.	.	.	.	T	0.23886	0.0578	L	0.29908	0.895	0.09310	N	1	P;P	0.45957	0.869;0.869	B;B	0.42361	0.385;0.385	T	0.19943	-1.0290	9	0.15066	T	0.55	0.8047	4.8281	0.13427	0.3768:0.0:0.3547:0.2685	.	115;115	P35663;F5H4V5	CYLC1_HUMAN;.	H	115	ENSP00000331556:Y115H	ENSP00000331556:Y115H	Y	+	1	0	CYLC1	83014715	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.784000	0.01769	-0.991000	0.03476	0.486000	0.48141	TAT	.	.		0.368	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
L1CAM	3897	hgsc.bcm.edu	37	X	153128941	153128941	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chrX:153128941C>A	ENST00000370060.1	-	27	3710	c.3521G>T	c.(3520-3522)gGc>gTc	p.G1174V	L1CAM_ENST00000543994.1_Missense_Mutation_p.G1176V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1176V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1174V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1174V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1169V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1169V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1174					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTACTCGCCGAAGGTCTC	0.612																																					p.G1174V		Atlas-SNP	.											.	L1CAM	189	.	0			c.G3521T						.						62.0	58.0	59.0					X																	153128941		2203	4300	6503	SO:0001583	missense	3897	exon26			TACTCGCCGAAGG	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3521G>T	chrX.hg19:g.153128941C>A	ENSP00000359077:p.Gly1174Val	143.0	0.0		122.0	105.0	NM_000425	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	hg19	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144047	0.77888	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	4.57	4.57	0.56435	.	0.000000	0.56097	D	0.000038	D	0.92753	0.7696	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.986;0.994;0.99	D	0.93459	0.6809	10	0.59425	D	0.04	.	15.6115	0.76721	0.0:1.0:0.0:0.0	.	1169;1174;1174	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	1174;1176;1174;1176;1169;1169;74;1174	ENSP00000359077:G1174V;ENSP00000438430:G1176V;ENSP00000359074:G1174V;ENSP00000439645:G1176V;ENSP00000354712:G1169V;ENSP00000359072:G1169V;ENSP00000359075:G74V;ENSP00000355380:G1174V	ENSP00000355380:G1174V	G	-	2	0	L1CAM	152782135	1.000000	0.71417	0.991000	0.47740	0.766000	0.43426	4.520000	0.60524	2.015000	0.59207	0.529000	0.55759	GGC	.	.		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
ZNF248	57209	hgsc.bcm.edu	37	10	38121875	38121875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr10:38121875delG	ENST00000395867.3	-	6	958	c.408delC	c.(406-408)cccfs	p.P136fs	ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Del_p.P136fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	136					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(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATATTTTATAGGGATAATTTC	0.318																																					p.Y137fs		Atlas-INDEL	.											.	ZNF248	61	.	0			c.409delT						.						54.0	55.0	55.0					10																	38121875		2202	4298	6500	SO:0001589	frameshift_variant	57209	exon6			.	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.408delC	chr10.hg19:g.38121875delG	ENSP00000379208:p.Pro136fs	199.0	0.0		153.0	63.0	NM_021045	Q8NDV8|Q9UMP3	Frame_Shift_Del	DEL	ENST00000395867.3	hg19	CCDS7194.1																																																																																			.	.		0.318	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ADORA2A	135	hgsc.bcm.edu	37	22	24836866	24836878	+	Frame_Shift_Del	DEL	GCCGGGGGAGCGG	GCCGGGGGAGCGG	-	rs200674969|rs199725333		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	GCCGGGGGAGCGG	GCCGGGGGAGCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr22:24836866_24836878delGCCGGGGGAGCGG	ENST00000337539.7	+	3	1107_1119	c.648_660delGCCGGGGGAGCGG	c.(646-660)ctgccgggggagcggfs	p.LPGER216fs	ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	216					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.R220W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GCCAGCCTCTGCCGGGGGAGCGGGCACGGTCCA	0.615																																					p.216_220del		Atlas-INDEL	.											.	ADORA2A	44	.	1	Substitution - Missense(1)	endometrium(1)	c.647_659del						.																																			SO:0001589	frameshift_variant	135	exon3			.	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.648_660delGCCGGGGGAGCGG	chr22.hg19:g.24836866_24836878delGCCGGGGGAGCGG	ENSP00000336630:p.Leu216fs	74.0	0.0		43.0	15.0	NM_000675	B2R7E0	Frame_Shift_Del	DEL	ENST00000337539.7	hg19	CCDS13826.1																																																																																			.	.		0.615	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
TP53	7157	hgsc.bcm.edu	37	17	7577595	7577598	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	CAGT	CAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr17:7577595_7577598delCAGT	ENST00000269305.4	-	7	872_875	c.683_686delACTG	c.(682-687)gactgtfs	p.DC228fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.DC228fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.DC228fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.DC228fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DC228fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.DC228fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	228	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(14)|p.0?(8)|p.D228E(5)|p.?(5)|p.D228G(4)|p.C229fs*1(4)|p.D228D(3)|p.C229F(3)|p.D228V(2)|p.C229_H233delCTTIH(2)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.D228A(2)|p.V225fs*23(1)|p.C136fs*10(1)|p.D228fs*12(1)|p.D228fs*11(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*1(1)|p.C136F(1)|p.G226_D228delGSD(1)|p.C229fs*18(1)|p.C229G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGTGGTACAGTCAGAGCCAAC	0.525		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.228_229del	Pancreas(47;798 1329 9957 10801)	Atlas-INDEL	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,bile_duct,carcinoma,-1,1	TP53	33396	.	69	Substitution - Missense(24)|Deletion - Frameshift(19)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Complex - frameshift(1)	biliary_tract(13)|ovary(12)|breast(8)|oesophagus(6)|upper_aerodigestive_tract(5)|bone(5)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|stomach(2)|central_nervous_system(2)|large_intestine(2)|urinary_tract(2)|prostate(2)|genital_tract(1)|lung(1)|pancreas(1)|liver(1)	c.684_687del						.																																			SO:0001589	frameshift_variant	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	.	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.683_686delACTG	chr17.hg19:g.7577595_7577598delCAGT	ENSP00000269305:p.Asp228fs	92.0	0.0		32.0	21.0	NM_001126112	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	hg19	CCDS11118.1																																																																																			.	.		0.525	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KIAA0586	9786	hgsc.bcm.edu	37	14	58965625	58965627	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:58965625_58965627delTGG	ENST00000556134.1	+	28	4344_4346	c.4070_4072delTGG	c.(4069-4074)ttggat>tat	p.1357_1358LD>Y	KIAA0586_ENST00000423743.3_In_Frame_Del_p.1328_1329LD>Y|KIAA0586_ENST00000261244.5_In_Frame_Del_p.1296_1297LD>Y|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_In_Frame_Del_p.1425_1426LD>Y	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1357					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACACAGTCTTTGGATCAACAATG	0.404																																					p.1425_1425del		Atlas-INDEL	.											.	KIAA0586	180	.	0			c.4273_4275del						.																																			SO:0001651	inframe_deletion	9786	exon29			.	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4070_4072delTGG	chr14.hg19:g.58965625_58965627delTGG	ENSP00000452351:p.Leu1357_Asp1358delinsTyr	104.0	0.0		103.0	31.0	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	In_Frame_Del	DEL	ENST00000556134.1	hg19	CCDS58321.1																																																																																			.	.		0.404	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
CELSR2	1952	hgsc.bcm.edu	37	1	109812061	109812061	+	Frame_Shift_Del	DEL	G	G	-	rs368719508		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:109812061delG	ENST00000271332.3	+	21	6889	c.6828delG	c.(6826-6828)ccgfs	p.P2276fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2276					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAAACGCCCGATCATCAACA	0.632																																					p.P2276fs	NSCLC(158;1285 2011 34800 34852 42084)	Atlas-INDEL	.											.	CELSR2	228	.	0			c.6827delC						.						57.0	47.0	50.0					1																	109812061		2203	4300	6503	SO:0001589	frameshift_variant	1952	exon21			.	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6828delG	chr1.hg19:g.109812061delG	ENSP00000271332:p.Pro2276fs	62.0	0.0		43.0	21.0	NM_001408	Q5T2Y7|Q92566	Frame_Shift_Del	DEL	ENST00000271332.3	hg19	CCDS796.1																																																																																			.	.		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
NTRK1	4914	hgsc.bcm.edu	37	1	156838011	156838011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:156838011delC	ENST00000524377.1	+	5	585	c.544delC	c.(544-546)cccfs	p.P182fs	NTRK1_ENST00000358660.3_Frame_Shift_Del_p.P182fs|NTRK1_ENST00000368196.3_Frame_Shift_Del_p.P182fs|NTRK1_ENST00000392302.2_Frame_Shift_Del_p.P152fs	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	182	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGGGCAAGGGCCCCTGGCCCA	0.652			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.G181fs		Atlas-INDEL	.		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	NTRK1	287	.	0			c.543delG						.						48.0	46.0	47.0					1																	156838011		2203	4300	6503	SO:0001589	frameshift_variant	4914	exon5			.	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.544delC	chr1.hg19:g.156838011delC	ENSP00000431418:p.Pro182fs	38.0	0.0		59.0	11.0	NM_002529	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Frame_Shift_Del	DEL	ENST00000524377.1	hg19	CCDS1161.1																																																																																			.	.		0.652	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
CADM3	57863	hgsc.bcm.edu	37	1	159166681	159166681	+	Splice_Site	DEL	C	C	-	rs149370954		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:159166681delC	ENST00000368125.4	+	7	940	c.783delC	c.(781-783)gtc>gt	p.V261fs	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Splice_Site_p.V295fs|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	261	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCCTCGACAGCCCCCAGCAGT	0.517																																					.		Atlas-INDEL	.											.	.	.	.	0			.						.						70.0	67.0	68.0					1																	159166681		2203	4300	6503	SO:0001630	splice_region_variant	0	.			.	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-1C>-	chr1.hg19:g.159166681delC		130.0	0.0		180.0	56.0	.	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	DEL	ENST00000368125.4	hg19	CCDS44251.1																																																																																			.	.		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	Frame_Shift_Del
MASP2	10747	hgsc.bcm.edu	37	1	11087660	11087686	+	In_Frame_Del	DEL	CCTCCATATATACGCCCTCCTGTTGTG	CCTCCATATATACGCCCTCCTGTTGTG	-	rs571956287|rs376909147		TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	CCTCCATATATACGCCCTCCTGTTGTG	CCTCCATATATACGCCCTCCTGTTGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:11087660_11087686delCCTCCATATATACGCCCTCCTGTTGTG	ENST00000400897.3	-	11	1332_1358	c.1317_1343delCACAACAGGAGGGCGTATATATGGAGG	c.(1315-1344)cgcacaacaggagggcgtatatatggaggg>cgg	p.TTGGRIYGG440del	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	440					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TGCCTTTTGCCCTCCATATATACGCCCTCCTGTTGTGCGGGCTGATA	0.441																																					p.440_448del	GBM(35;611 746 20780 22741 36496)	Atlas-INDEL	.											.	MASP2	71	.	0			c.1318_1344del						.																																			SO:0001651	inframe_deletion	10747	exon11			.	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1317_1343delCACAACAGGAGGGCGTATATATGGAGG	chr1.hg19:g.11087660_11087686delCCTCCATATATACGCCCTCCTGTTGTG	ENSP00000383690:p.Thr440_Gly448del	146.0	0.0		85.0	19.0	NM_006610	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	In_Frame_Del	DEL	ENST00000400897.3	hg19	CCDS123.1																																																																																			.	.		0.441	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
COL20A1	57642	hgsc.bcm.edu	37	20	61948029	61948038	+	Frame_Shift_Del	DEL	GACAAGACGG	GACAAGACGG	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	GACAAGACGG	GACAAGACGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr20:61948029_61948038delGACAAGACGG	ENST00000358894.6	+	21	2749_2758	c.2649_2658delGACAAGACGG	c.(2647-2658)ctgacaagacggfs	p.LTRR883fs	COL20A1_ENST00000422202.1_Frame_Shift_Del_p.LTRR890fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.LTRR883fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.LTRR890fs	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	883	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACGCCCAGCTGACAAGACGGGTCAGGTGTG	0.667																																					p.883_886del		Atlas-INDEL	.											.	COL20A1	137	.	0			c.2648_2657del						.																																			SO:0001589	frameshift_variant	57642	exon21			.	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2649_2658delGACAAGACGG	chr20.hg19:g.61948029_61948038delGACAAGACGG	ENSP00000351767:p.Leu883fs	29.0	0.0		49.0	13.0	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Frame_Shift_Del	DEL	ENST00000358894.6	hg19	CCDS46628.1																																																																																			.	.		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
SPAG17	200162	hgsc.bcm.edu	37	1	118539254	118539254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr1:118539254delT	ENST00000336338.5	-	33	4954	c.4889delA	c.(4888-4890)aatfs	p.N1630fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1630						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGCTGATGATTCTTTTCAAG	0.323																																					p.N1630fs		Atlas-INDEL	.											.	SPAG17	263	.	0			c.4890delT						.						98.0	98.0	98.0					1																	118539254		2203	4300	6503	SO:0001589	frameshift_variant	200162	exon33			.		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4889delA	chr1.hg19:g.118539254delT	ENSP00000337804:p.Asn1630fs	186.0	0.0		191.0	91.0	NM_206996	Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	hg19	CCDS899.1																																																																																			.	.		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
KIAA0586	9786	hgsc.bcm.edu	37	14	58965630	58965631	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DD-AACQ-01A-11D-A40R-10	TCGA-DD-AACQ-10A-01D-A40U-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5ad554e-26df-4b28-bf84-a689d77c2602	90e3ca3e-5517-4d7e-a1da-204704c66280	g.chr14:58965630_58965631delCA	ENST00000556134.1	+	28	4349_4350	c.4075_4076delCA	c.(4075-4077)caafs	p.Q1360fs	KIAA0586_ENST00000423743.3_Frame_Shift_Del_p.Q1331fs|KIAA0586_ENST00000261244.5_Frame_Shift_Del_p.Q1299fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Frame_Shift_Del_p.Q1428fs	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1360					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCTTTGGATCAACAATGTGAT	0.406																																					p.1426_1427del		Atlas-INDEL	.											.	KIAA0586	180	.	0			c.4278_4279del						.																																			SO:0001589	frameshift_variant	9786	exon29			.	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4075_4076delCA	chr14.hg19:g.58965630_58965631delCA	ENSP00000452351:p.Gln1360fs	102.0	0.0		101.0	31.0	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Frame_Shift_Del	DEL	ENST00000556134.1	hg19	CCDS58321.1																																																																																			.	.		0.406	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
