#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_Confidence	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_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	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_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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
GGN	199720	hgsc.bcm.edu	37	19	38876581	38876583	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:38876581_38876583delGCA	ENST00000334928.6	-	3	1451_1453	c.1319_1321delTGC	c.(1318-1323)ctgcca>cca	p.L440del	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	440	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgggcggtggcagcggtggTAA	0.724																																					p.440_441del		Atlas-Indel	.											.	GGN	50	.	0			c.1320_1322del						PASS	.																																			SO:0001651	inframe_deletion	199720	exon3			.	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1319_1321delTGC	19.37:g.38876581_38876583delGCA	ENSP00000334940:p.Leu440del	68.0	0.0	0		72.0	11.0	0.152778	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	In_Frame_Del	DEL	ENST00000334928.6	37	CCDS12516.1																																																																																			.	.	none		0.724	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
TFDP2	7029	hgsc.bcm.edu	37	3	141688919	141688921	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:141688919_141688921delAGG	ENST00000489671.1	-	9	1156_1158	c.726_728delCCT	c.(724-729)ctccta>cta	p.242_243LL>L	TFDP2_ENST00000486111.1_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000310282.6_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000479040.1_In_Frame_Del_p.181_182LL>L|TFDP2_ENST00000495310.1_In_Frame_Del_p.145_146LL>L|TFDP2_ENST00000499676.2_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000317104.7_In_Frame_Del_p.166_167LL>L|TFDP2_ENST00000397991.4_In_Frame_Del_p.214_215LL>L|TFDP2_ENST00000467072.1_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000477292.1_In_Frame_Del_p.106_107LL>L			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	242	DCB1.|Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CTTTACCTGTAGGAGAAGTTCTT	0.429																																					p.243_243del		Pindel,Atlas-Indel	.											.	TFDP2	44	.	0			c.727_729del						PASS	.																																			SO:0001651	inframe_deletion	7029	exon9			.	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.726_728delCCT	3.37:g.141688919_141688921delAGG	ENSP00000420616:p.Leu243del	164.0	0.0	.		165.0	31.0	0.188	NM_001178139	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	In_Frame_Del	DEL	ENST00000489671.1	37	CCDS54650.1																																																																																			.	.	none		0.429	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	
GPR52	9293	hgsc.bcm.edu	37	1	174418186	174418209	+	In_Frame_Del	DEL	AACTGTGTAATATACAGCCTCTCC	AACTGTGTAATATACAGCCTCTCC	-	rs75331361|rs560667623		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	AACTGTGTAATATACAGCCTCTCC	AACTGTGTAATATACAGCCTCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:174418186_174418209delAACTGTGTAATATACAGCCTCTCC	ENST00000367685.2	+	1	975_998	c.937_960delAACTGTGTAATATACAGCCTCTCC	c.(937-960)aactgtgtaatatacagcctctccdel	p.NCVIYSLS313del	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	313					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TAGTTTTTGTAACTGTGTAATATACAGCCTCTCCAACAGCGTTT	0.442																																					p.312_320del	Ovarian(92;924 1390 1930 16467 40583)	Atlas-Indel	.											.	GPR52	40	.	0			c.936_959del						PASS	.																																			SO:0001651	inframe_deletion	9293	exon1			.	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.937_960delAACTGTGTAATATACAGCCTCTCC	1.37:g.174418186_174418209delAACTGTGTAATATACAGCCTCTCC	ENSP00000356658:p.Asn313_Ser320del	115.0	0.0	0		143.0	17.0	0.118881	NM_005684	O75654|Q4VBL6|Q6ISM0	In_Frame_Del	DEL	ENST00000367685.2	37	CCDS30941.1																																																																																			.	.	none		0.442	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
UNC5B	219699	hgsc.bcm.edu	37	10	73050831	73050831	+	Missense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:73050831G>T	ENST00000335350.6	+	9	1675	c.1259G>T	c.(1258-1260)gGt>gTt	p.G420V	UNC5B_ENST00000373192.4_Missense_Mutation_p.G409V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	420					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGACTGGTGGTTTCCACCCC	0.597																																					p.G420V		Atlas-SNP	.											UNC5B,NS,neuroblastoma,+1,2	UNC5B	123	2	0			c.G1259T						PASS	.						240.0	226.0	231.0					10																	73050831		2203	4300	6503	SO:0001583	missense	219699	exon9			CTGGTGGTTTCCA	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1259G>T	10.37:g.73050831G>T	ENSP00000334329:p.Gly420Val	66.0	0.0	0		50.0	15.0	0.3	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013898	0.54468	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.56275	0.58;0.47	5.39	5.39	0.77823	.	0.108387	0.64402	D	0.000005	T	0.74061	0.3667	M	0.82823	2.61	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.62382	0.901;0.743	T	0.77656	-0.2506	10	0.62326	D	0.03	-29.0247	19.1392	0.93441	0.0:0.0:1.0:0.0	.	409;420	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	420;409	ENSP00000334329:G420V;ENSP00000362288:G409V	ENSP00000334329:G420V	G	+	2	0	UNC5B	72720837	1.000000	0.71417	0.961000	0.40146	0.094000	0.18550	7.387000	0.79785	2.535000	0.85469	0.655000	0.94253	GGT	.	.	none		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
GABRB3	2562	hgsc.bcm.edu	37	15	26806091	26806091	+	Silent	SNP	G	G	A	rs369761963		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:26806091G>A	ENST00000311550.5	-	8	1179	c.1068C>T	c.(1066-1068)agC>agT	p.S356S	GABRB3_ENST00000541819.2_Silent_p.S412S|GABRB3_ENST00000299267.4_Silent_p.S356S|GABRB3_ENST00000400188.3_Silent_p.S285S|GABRB3_ENST00000545868.1_Silent_p.S271S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	356					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGCTTTCGCTCTTTGAAC	0.478																																					p.S356S		Atlas-SNP	.											GABRB3_ENST00000541819,colon,carcinoma,-1,4	GABRB3	338	4	0			c.C1068T						PASS	.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	247.0	267.0	260.0		1068,813,855,1068	-8.1	0.4	15		260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	356/474,271/389,285/403,356/474	26806091	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2562	exon8			GCTTTCGCTCTTT		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1068C>T	15.37:g.26806091G>A		253.0	0.0	0		279.0	60.0	0.215054	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																			.	.	weak		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
PAX7	5081	hgsc.bcm.edu	37	1	18962816	18962816	+	Silent	SNP	C	C	T	rs372598486		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:18962816C>T	ENST00000375375.3	+	4	1135	c.537C>T	c.(535-537)gaC>gaT	p.D179D	PAX7_ENST00000400661.3_Silent_p.D177D|PAX7_ENST00000420770.2_Silent_p.D179D	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	179	Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		aggaggacgacggcgaaaaga	0.557			T	FOXO1A	alveolar rhabdomyosarcoma																																p.D179D		Atlas-SNP	.		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	PAX7	127	.	0			c.C537T						PASS	.						232.0	198.0	209.0					1																	18962816		2203	4300	6503	SO:0001819	synonymous_variant	5081	exon4			GGACGACGGCGAA	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.537C>T	1.37:g.18962816C>T		77.0	0.0	0		90.0	21.0	0.233333	NM_002584	E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	CCDS186.1																																																																																			.	.	none		0.557	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584	
TCTN1	79600	hgsc.bcm.edu	37	12	111082831	111082831	+	Missense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:111082831G>T	ENST00000551590.1	+	12	1547	c.1391G>T	c.(1390-1392)gGc>gTc	p.G464V	TCTN1_ENST00000397659.4_Missense_Mutation_p.G464V|TCTN1_ENST00000397655.3_Missense_Mutation_p.G450V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Silent_p.G210G			Q2MV58	TECT1_HUMAN	tectonic family member 1	464					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCTGTGGGGCCAGGGCTTC	0.547																																					p.G464V		Atlas-SNP	.											.	TCTN1	37	.	0			c.G1391T						PASS	.						78.0	78.0	78.0					12																	111082831		1878	4104	5982	SO:0001583	missense	79600	exon12			TGTGGGGCCAGGG	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1391G>T	12.37:g.111082831G>T	ENSP00000448735:p.Gly464Val	49.0	0.0	0		49.0	12.0	0.244898	NM_001082537	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412968	0.62511	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038	T;T;T	0.80566	-1.38;-1.39;-1.37	5.66	5.66	0.87406	.	1.378350	0.04967	N	0.463180	D	0.92169	0.7517	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83235	-0.0061	10	0.44086	T	0.13	-8.2873	20.1253	0.97977	0.0:0.0:1.0:0.0	.	464;450;464	Q2MV58;Q2MV58-3;Q2MV58-2	TECT1_HUMAN;.;.	V	355;464;450;286;464;408;25;68	ENSP00000448735:G464V;ENSP00000380775:G450V;ENSP00000380779:G464V	ENSP00000380771:G355V	G	+	2	0	TCTN1	109567214	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.516000	0.67055	2.832000	0.97577	0.655000	0.94253	GGC	.	.	none		0.547	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549	
ZNF80	7634	hgsc.bcm.edu	37	3	113955390	113955390	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:113955390G>A	ENST00000482457.2	-	1	1035	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTCATGTGCCGGGTTAAGGAA	0.478																																					p.R178W	GBM(23;986 1114 21716)	Atlas-SNP	.											ZNF80,colon,carcinoma,+1,1	ZNF80	75	1	0			c.C532T						PASS	.						122.0	125.0	124.0					3																	113955390		2203	4300	6503	SO:0001583	missense	7634	exon1			TGTGCCGGGTTAA	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.532C>T	3.37:g.113955390G>A	ENSP00000417192:p.Arg178Trp	51.0	0.0	0		71.0	15.0	0.211268	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243323	0.58995	.	.	ENSG00000174255	ENST00000482457	T	0.26660	1.72	2.81	0.881	0.19166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43809	0.1264	M	0.76574	2.34	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.18587	-1.0332	9	0.72032	D	0.01	.	5.0015	0.14266	0.0:0.2352:0.3717:0.3931	.	178	P51504	ZNF80_HUMAN	W	178	ENSP00000417192:R178W	ENSP00000309812:R178W	R	-	1	2	ZNF80	115438080	0.000000	0.05858	0.000000	0.03702	0.781000	0.44180	-5.966000	0.00088	0.205000	0.20568	-0.314000	0.08810	CGG	.	.	none		0.478	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
SLCO1B7	338821	hgsc.bcm.edu	37	12	21201645	21201645	+	Splice_Site	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:21201645G>A	ENST00000421593.2	+	8	994		c.e8-1		SLCO1B7_ENST00000554957.1_Splice_Site|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Splice_Site|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTATTTCTAGGAGTCCTCGC	0.333																																					.		Atlas-SNP	.											.	SLCO1B7	85	.	0			c.995-1G>A						PASS	.						25.0	23.0	24.0					12																	21201645		1917	4160	6077	SO:0001630	splice_region_variant	338821	exon8			TTTCTAGGAGTCC	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.995-1G>A	12.37:g.21201645G>A		145.0	0.0	0		143.0	34.0	0.237762	NM_001009562	Q71QF0	Splice_Site	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874312	0.17395	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2399	0.54536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B7;RP11-545J16.1	21092912	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	6.639000	0.74314	1.909000	0.55274	0.508000	0.49915	.	.	.	none		0.333	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	Intron
OBSCN	84033	hgsc.bcm.edu	37	1	228557697	228557697	+	Silent	SNP	C	C	T	rs200703788	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:228557697C>T	ENST00000422127.1	+	91	20066	c.20022C>T	c.(20020-20022)aaC>aaT	p.N6674N	OBSCN_ENST00000366707.4_Silent_p.N4308N|OBSCN_ENST00000570156.2_Silent_p.N7631N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6674	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CCCTCCTGAACGTCCTGGAGG	0.637																																					p.N7631N		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C22893T						PASS	.						67.0	69.0	68.0					1																	228557697		2005	4157	6162	SO:0001819	synonymous_variant	84033	exon102			CCTGAACGTCCTG	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.20022C>T	1.37:g.228557697C>T		56.0	0.0	0		73.0	17.0	0.232877	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	6.857	0.527360	0.13066	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.72	-7.4	0.01397	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.26941	N	0.966244	.	.	.	.	.	.	T	0.42916	-0.9423	4	.	.	.	.	16.4815	0.84159	0.0:0.2737:0.0:0.7263	.	.	.	.	C	1291	.	.	R	+	1	0	OBSCN	226624320	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	-1.550000	0.02180	-1.617000	0.01570	-0.463000	0.05309	CGT	C|0.996;G|0.004	.	alt		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
P2RY6	5031	hgsc.bcm.edu	37	11	73008491	73008491	+	Missense_Mutation	SNP	C	C	T	rs139336490		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:73008491C>T	ENST00000393590.2	+	2	1227	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	P2RY6_ENST00000349767.2_Missense_Mutation_p.R310W|P2RY6_ENST00000393591.1_Missense_Mutation_p.R310W|P2RY6_ENST00000540342.1_Missense_Mutation_p.R310W|P2RY6_ENST00000540124.1_Missense_Mutation_p.R310W|P2RY6_ENST00000538328.1_Missense_Mutation_p.R310W|P2RY6_ENST00000542092.1_Missense_Mutation_p.R310W|P2RY6_ENST00000393592.2_Missense_Mutation_p.R310W	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	310					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GAAGTTCCGCCGGCGACCACA	0.587																																					p.R310W		Atlas-SNP	.											.	P2RY6	45	.	0			c.C928T						PASS	.						31.0	33.0	32.0					11																	73008491		2190	4275	6465	SO:0001583	missense	5031	exon4			TTCCGCCGGCGAC		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.928C>T	11.37:g.73008491C>T	ENSP00000377215:p.Arg310Trp	32.0	0.0	0		31.0	13.0	0.419355	NM_176796	Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225220	0.39300	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.92	4.92	0.64577	.	0.440844	0.23032	N	0.052725	T	0.32793	0.0841	M	0.76002	2.32	0.39492	D	0.968068	P	0.49635	0.926	B	0.36504	0.226	T	0.47623	-0.9103	10	0.87932	D	0	.	14.0296	0.64606	0.0:0.8365:0.1635:0.0	.	310	Q15077	P2RY6_HUMAN	W	310	ENSP00000443427:R310W;ENSP00000445652:R310W;ENSP00000309771:R310W;ENSP00000377217:R310W;ENSP00000377216:R310W;ENSP00000442551:R310W;ENSP00000377215:R310W;ENSP00000442990:R310W	ENSP00000309771:R310W	R	+	1	2	P2RY6	72686139	0.841000	0.29509	0.911000	0.35937	0.283000	0.27025	2.411000	0.44600	2.696000	0.92011	0.655000	0.94253	CGG	C|1.000;A|0.000	.	alt		0.587	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1		
WDTC1	23038	hgsc.bcm.edu	37	1	27608772	27608772	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:27608772G>A	ENST00000319394.3	+	4	710	c.175G>A	c.(175-177)Gga>Aga	p.G59R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G59R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	59					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GAATGAGAAAGGAGAGTAAGT	0.517																																					p.G59R		Atlas-SNP	.											.	WDTC1	69	.	0			c.G175A						PASS	.						103.0	91.0	95.0					1																	27608772		2203	4300	6503	SO:0001583	missense	23038	exon4			GAGAAAGGAGAGT	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.175G>A	1.37:g.27608772G>A	ENSP00000317971:p.Gly59Arg	43.0	0.0	0		44.0	17.0	0.386364	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.949156	0.92660	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.65549	-0.16;-0.16	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85399	0.1130	10	0.87932	D	0	.	17.1641	0.86810	0.0:0.0:1.0:0.0	.	59;59	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	R	59	ENSP00000317971:G59R;ENSP00000355317:G59R	ENSP00000317971:G59R	G	+	1	0	WDTC1	27481359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.976000	0.93442	2.612000	0.88384	0.655000	0.94253	GGA	.	.	none		0.517	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
RHOB	388	hgsc.bcm.edu	37	2	20647760	20647760	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:20647760G>A	ENST00000272233.4	+	1	926	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	178					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CGCGCGCCGCGCTGCAGAAGC	0.697																																					p.A178A		Atlas-SNP	.											.	RHOB	18	.	0			c.G534A						PASS	.						45.0	48.0	47.0					2																	20647760		2181	4268	6449	SO:0001819	synonymous_variant	388	exon1			CGCCGCGCTGCAG		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.534G>A	2.37:g.20647760G>A		50.0	0.0	0		56.0	16.0	0.285714	NM_004040	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	CCDS1699.1																																																																																			.	.	none		0.697	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040	
TYRP1	7306	hgsc.bcm.edu	37	9	12694262	12694262	+	Missense_Mutation	SNP	T	T	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:12694262T>A	ENST00000388918.5	+	2	395	c.266T>A	c.(265-267)gTc>gAc	p.V89D	TYRP1_ENST00000381137.2_De_novo_Start_InFrame|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	89					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATCGGGAGGTCTGGCCCTTG	0.587									Oculocutaneous Albinism																												p.V89D		Atlas-SNP	.											.	TYRP1	60	.	0			c.T266A						PASS	.						48.0	42.0	44.0					9																	12694262		2203	4300	6503	SO:0001583	missense	7306	exon2	Familial Cancer Database		GGGAGGTCTGGCC	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.266T>A	9.37:g.12694262T>A	ENSP00000373570:p.Val89Asp	63.0	0.0	0		41.0	11.0	0.268293	NM_000550	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	t	4.240	0.043527	0.08196	.	.	ENSG00000107165	ENST00000473763;ENST00000388918	T;D	0.83992	2.37;-1.79	5.5	-11.0	0.00169	Uncharacterised domain, di-copper centre (1);	0.887861	0.09965	N	0.732931	T	0.43077	0.1231	N	0.00771	-1.2	0.09310	N	1	B	0.17038	0.02	B	0.22386	0.039	T	0.49380	-0.8946	10	0.15499	T	0.54	-8.1282	2.5154	0.04667	0.2616:0.3919:0.1284:0.218	.	89	P17643	TYRP1_HUMAN	D	89	ENSP00000419006:V89D;ENSP00000373570:V89D	ENSP00000373570:V89D	V	+	2	0	TYRP1	12684262	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.596000	0.05720	-2.394000	0.00583	-2.484000	0.00197	GTC	.	.	none		0.587	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
TBX3	6926	hgsc.bcm.edu	37	12	115112370	115112370	+	Missense_Mutation	SNP	G	G	A	rs371891930		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:115112370G>A	ENST00000257566.3	-	7	1759	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	TBX3_ENST00000349155.2_Missense_Mutation_p.P437L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	457					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCGCGAACCGGGCTCCTGCG	0.751																																					p.P457L		Atlas-SNP	.											TBX3,NS,carcinoma,+1,1	TBX3	106	1	0			c.C1370T						PASS	.	G	LEU/PRO,LEU/PRO	0,4302		0,0,2151	8.0	11.0	10.0		1310,1370	5.1	0.9	12		10	1,8327		0,1,4163	no	missense,missense	TBX3	NM_005996.3,NM_016569.3	98,98	0,1,6314	AA,AG,GG		0.012,0.0,0.0079	probably-damaging,probably-damaging	437/724,457/744	115112370	1,12629	2151	4164	6315	SO:0001583	missense	6926	exon7			CGAACCGGGCTCC	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1370C>T	12.37:g.115112370G>A	ENSP00000257566:p.Pro457Leu	35.0	0.0	0		46.0	9.0	0.195652	NM_016569	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543547	0.45280	0.0	1.2E-4	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87412	-2.25;-2.24	5.14	5.14	0.70334	.	3.995250	0.00465	N	0.000108	D	0.94341	0.8181	M	0.71581	2.175	0.80722	D	1	P;D	0.89917	0.807;1.0	B;D	0.87578	0.375;0.998	T	0.82827	-0.0265	10	0.29301	T	0.29	.	17.5833	0.87973	0.0:0.0:1.0:0.0	.	437;457	O15119-2;O15119	.;TBX3_HUMAN	L	437;457;457	ENSP00000257567:P437L;ENSP00000257566:P457L	ENSP00000257566:P457L	P	-	2	0	TBX3	113596753	1.000000	0.71417	0.871000	0.34182	0.016000	0.09150	8.587000	0.90810	2.391000	0.81399	0.591000	0.81541	CCG	.	.	weak		0.751	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
MT-ND4	4538	hgsc.bcm.edu	37	M	11991	11991	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chrM:11991T>C	ENST00000361381.2	+	1	1232	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	411					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTCTACATATTTACCACAAC	0.438																																					p.F411S		Atlas-SNP	.											.	.	.	.	0			c.T1232C						PASS	.																																			SO:0001583	missense	0	exon1			ACATATTTACCAC			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1232T>C	M.37:g.11991T>C	ENSP00000354961:p.Phe411Ser	24.0	0.0	0		16.0	7.0	0.4375	ENST00000361381	Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37																																																																																				.	.	none		0.438	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035	
HIST2H2BE	8349	hgsc.bcm.edu	37	1	149858047	149858047	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:149858047C>T	ENST00000369155.2	-	1	185	c.144G>A	c.(142-144)caG>caA	p.Q48Q	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	48					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGGGTGGACCTGCTTCAGCA	0.587																																					p.Q48Q		Atlas-SNP	.											.	HIST2H2BE	33	.	0			c.G144A						PASS	.						200.0	187.0	191.0					1																	149858047		2203	4300	6503	SO:0001819	synonymous_variant	8349	exon1			GTGGACCTGCTTC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.144G>A	1.37:g.149858047C>T		100.0	0.0	0		159.0	35.0	0.220126	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	ENST00000369155.2	37	CCDS936.1																																																																																			.	.	none		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528	
ADARB2	105	hgsc.bcm.edu	37	10	1230952	1230952	+	Missense_Mutation	SNP	G	G	A	rs138785387		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:1230952G>A	ENST00000381312.1	-	9	2217	c.1892C>T	c.(1891-1893)cCg>cTg	p.P631L	ADARB2_ENST00000381310.3_Missense_Mutation_p.P140L|ADARB2_ENST00000381305.1_Missense_Mutation_p.P33L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	631	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGACTTCCCCGGCTGGCGCGC	0.682																																					p.P631L		Atlas-SNP	.											.	ADARB2	95	.	0			c.C1892T						PASS	.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	27.0	27.0	27.0		1892	4.8	0.9	10	dbSNP_134	27	2,8594	2.2+/-6.3	0,2,4296	yes	missense	ADARB2	NM_018702.3	98	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	631/740	1230952	3,12999	2203	4298	6501	SO:0001583	missense	105	exon9			TTCCCCGGCTGGC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1892C>T	10.37:g.1230952G>A	ENSP00000370713:p.Pro631Leu	47.0	0.0	0		73.0	24.0	0.328767	NM_018702	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714870	0.48622	2.27E-4	2.33E-4	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.93659	-3.26;-3.26;-3.26	4.81	4.81	0.61882	Adenosine deaminase/editase (3);	0.222293	0.46758	D	0.000264	D	0.94706	0.8292	M	0.78049	2.395	0.58432	D	0.999994	P;P;D	0.59767	0.933;0.932;0.986	P;P;P	0.49085	0.537;0.6;0.475	D	0.95484	0.8563	10	0.72032	D	0.01	-27.7191	17.8992	0.88898	0.0:0.0:1.0:0.0	.	631;33;140	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	L	631;140;33	ENSP00000370713:P631L;ENSP00000370711:P140L;ENSP00000370706:P33L	ENSP00000370706:P33L	P	-	2	0	ADARB2	1220952	1.000000	0.71417	0.920000	0.36463	0.080000	0.17528	4.341000	0.59335	2.220000	0.72140	0.561000	0.74099	CCG	G|1.000;A|0.000	0.000	weak		0.682	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
ZNF841	284371	hgsc.bcm.edu	37	19	52569959	52569959	+	Missense_Mutation	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:52569959C>G	ENST00000426391.2	-	5	1379	c.828G>C	c.(826-828)caG>caC	p.Q276H	ZNF841_ENST00000594295.1_Missense_Mutation_p.Q392H|ZNF841_ENST00000389534.4_Missense_Mutation_p.Q392H|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.Q276H			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TATGAACTGTCTGATGAGTTG	0.403																																					p.Q392H		Atlas-SNP	.											.	ZNF841	183	.	0			c.G1176C						PASS	.						121.0	109.0	112.0					19																	52569959		692	1591	2283	SO:0001583	missense	284371	exon7			AACTGTCTGATGA	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.828G>C	19.37:g.52569959C>G	ENSP00000415453:p.Gln276His	107.0	0.0	0		96.0	27.0	0.28125	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.190664	0.58017	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.36520	1.25;1.25;1.25	2.26	-2.37	0.06643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39462	0.1079	L	0.43757	1.38	0.09310	N	1	D;B;D	0.58970	0.984;0.234;0.974	D;B;D	0.65987	0.94;0.049;0.912	T	0.26052	-1.0114	9	0.51188	T	0.08	.	0.9063	0.01285	0.1624:0.3178:0.2785:0.2414	.	392;276;276	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	H	392;276;276	ENSP00000374185:Q392H;ENSP00000415453:Q276H;ENSP00000353060:Q276H	ENSP00000353060:Q276H	Q	-	3	2	ZNF841	57261771	0.000000	0.05858	0.000000	0.03702	0.936000	0.57629	-0.278000	0.08490	-0.564000	0.06070	0.313000	0.20887	CAG	.	.	none		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155	
ZNF273	10793	hgsc.bcm.edu	37	7	64388883	64388883	+	Missense_Mutation	SNP	A	A	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:64388883A>C	ENST00000476120.1	+	4	1248	c.1177A>C	c.(1177-1179)Aag>Cag	p.K393Q	ZNF273_ENST00000319636.5_Missense_Mutation_p.K328Q|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TACTAGACATAAGATAGTTCA	0.353																																					p.K393Q	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	Atlas-SNP	.											.	ZNF273	45	.	0			c.A1177C						PASS	.						49.0	53.0	52.0					7																	64388883		2201	4298	6499	SO:0001583	missense	10793	exon4			AGACATAAGATAG	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1177A>C	7.37:g.64388883A>C	ENSP00000418719:p.Lys393Gln	61.0	0.0	0		65.0	13.0	0.2	NM_021148	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	13.59	2.283312	0.40394	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07567	3.18;3.18	1.16	-0.975	0.10289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.11789	0.175	0.21105	N	0.999781	D	0.76494	0.999	D	0.74023	0.982	T	0.35076	-0.9803	9	0.13108	T	0.6	.	4.7908	0.13248	0.3721:0.6278:0.0:0.0	.	393	Q14593	ZN273_HUMAN	Q	393;328	ENSP00000418719:K393Q;ENSP00000324518:K328Q	ENSP00000324518:K328Q	K	+	1	0	ZNF273	64026318	0.000000	0.05858	0.786000	0.31890	0.785000	0.44390	-0.741000	0.04855	0.175000	0.19841	0.172000	0.16884	AAG	.	.	none		0.353	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1		
HIST1H2AG	8969	hgsc.bcm.edu	37	6	27101120	27101120	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27101120C>T	ENST00000359193.2	+	1	289	c.270C>T	c.(268-270)aaC>aaT	p.N90N	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	90						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCATCCGCAACGACGAGGAGC	0.612																																					p.N90N		Atlas-SNP	.											.	HIST1H2AG	37	.	0			c.C270T						PASS	.						115.0	110.0	111.0					6																	27101120		2203	4300	6503	SO:0001819	synonymous_variant	8969	exon1			CCGCAACGACGAG	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.270C>T	6.37:g.27101120C>T		129.0	0.0	0		156.0	36.0	0.230769	NM_021064	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	CCDS4619.1																																																																																			.	.	none		0.612	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064	
APBA2	321	hgsc.bcm.edu	37	15	29346718	29346718	+	Missense_Mutation	SNP	C	C	T	rs149847107		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:29346718C>T	ENST00000558402.1	+	5	1230	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	APBA2_ENST00000558330.1_Missense_Mutation_p.R211C|APBA2_ENST00000561069.1_Missense_Mutation_p.R211C|APBA2_ENST00000411764.1_Missense_Mutation_p.R211C|APBA2_ENST00000558259.1_Missense_Mutation_p.R211C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	211	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCCCCTACCGCCTGAGGCG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20367	0.0		0.001	False		,,,				2504	0.0				p.R211C		Atlas-SNP	.											APBA2,caecum,carcinoma,-1,1	APBA2	132	1	0			c.C631T						PASS	.	C	CYS/ARG,CYS/ARG	0,4402		0,0,2201	44.0	34.0	37.0		631,631	2.9	0.1	15	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	211/738,211/750	29346718	1,13001	2201	4300	6501	SO:0001583	missense	321	exon3			CCCTACCGCCTGA	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.631C>T	15.37:g.29346718C>T	ENSP00000453293:p.Arg211Cys	42.0	0.0	0		67.0	19.0	0.283582	NM_005503	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.31	1.898247	0.33535	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.47177	0.85	4.77	2.89	0.33648	.	0.517876	0.20604	N	0.089082	T	0.42720	0.1215	L	0.54323	1.7	0.18873	N	0.999985	B;D;B	0.63046	0.122;0.992;0.06	B;B;B	0.42916	0.008;0.402;0.006	T	0.35895	-0.9770	10	0.72032	D	0.01	.	10.2679	0.43466	0.0:0.8387:0.0:0.1613	.	211;211;211	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	211	ENSP00000409312:R211C	ENSP00000219865:R211C	R	+	1	0	APBA2	27134010	0.000000	0.05858	0.085000	0.20634	0.465000	0.32709	0.245000	0.18142	0.541000	0.28827	-0.142000	0.14014	CGC	C|1.000;T|0.000	0.000	strong		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
PCDHGA7	56108	hgsc.bcm.edu	37	5	140764414	140764414	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140764414G>A	ENST00000518325.1	+	1	1948	c.1948G>A	c.(1948-1950)Ggt>Agt	p.G650S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGACCACGGTCAGCCTCC	0.672																																					p.G650S		Atlas-SNP	.											PCDHGA7,NS,carcinoma,0,1	PCDHGA7	130	1	0			c.G1948A						PASS	.						35.0	42.0	40.0					5																	140764414		2198	4298	6496	SO:0001583	missense	56108	exon1			GACCACGGTCAGC	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1948G>A	5.37:g.140764414G>A	ENSP00000430024:p.Gly650Ser	57.0	0.0	0		81.0	23.0	0.283951	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.362272	0.82353	.	.	ENSG00000253537	ENST00000518325	T	0.64260	-0.09	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85932	0.5812	H	0.96301	3.8	0.42286	D	0.992115	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.90975	0.4823	9	0.87932	D	0	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	650;650	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	650	ENSP00000430024:G650S	ENSP00000430024:G650S	G	+	1	0	PCDHGA7	140744598	1.000000	0.71417	0.726000	0.30738	0.831000	0.47069	7.575000	0.82447	2.413000	0.81919	0.655000	0.94253	GGT	.	.	none		0.672	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
SEPT4	5414	hgsc.bcm.edu	37	17	56599357	56599357	+	Silent	SNP	G	G	A	rs144640338		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580844.1_Silent_p.C157C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	256	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562																																					p.C271C		Atlas-SNP	.											.	SEPT4	48	.	0			c.C813T						PASS	.	G	,,,	0,4406		0,0,2203	175.0	145.0	155.0		744,768,711,711	4.9	1.0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5414	exon7			GTACAGGCAGCAG	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.768C>T	17.37:g.56599357G>A		126.0	0.0	0		135.0	36.0	0.266667	NM_001256782	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	CCDS11610.1																																																																																			G|1.000;A|0.000	0.000	weak		0.562	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
DDX25	29118	hgsc.bcm.edu	37	11	125774440	125774440	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:125774440G>A	ENST00000263576.6	+	1	183	c.28G>A	c.(28-30)Gca>Aca	p.A10T	DDX25_ENST00000525943.1_Intron|PUS3_ENST00000227474.3_5'Flank|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	10					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGGAGGCGACGCAGGGGCGGC	0.726																																					p.A10T		Atlas-SNP	.											.	DDX25	65	.	0			c.G28A						PASS	.						4.0	11.0	9.0					11																	125774440		584	1438	2022	SO:0001583	missense	29118	exon1			GGCGACGCAGGGG	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.28G>A	11.37:g.125774440G>A	ENSP00000263576:p.Ala10Thr	37.0	0.0	0		71.0	38.0	0.535211	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554398	0.45487	.	.	ENSG00000109832	ENST00000263576	T	0.03413	3.94	4.15	3.23	0.37069	.	0.279248	0.25458	N	0.030527	T	0.02304	0.0071	N	0.22421	0.69	0.28701	N	0.904047	P;P	0.35551	0.509;0.509	B;B	0.27887	0.084;0.084	T	0.43376	-0.9395	10	0.17369	T	0.5	1.0E-4	9.6226	0.39730	0.0:0.2478:0.7522:0.0	.	10;10	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	10	ENSP00000263576:A10T	ENSP00000263576:A10T	A	+	1	0	DDX25	125279650	0.995000	0.38212	0.972000	0.41901	0.908000	0.53690	2.400000	0.44504	0.905000	0.36596	0.462000	0.41574	GCA	.	.	none		0.726	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264	
DNAH6	1768	hgsc.bcm.edu	37	2	84921393	84921393	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:84921393A>G	ENST00000237449.6	+	45	7321	c.7313A>G	c.(7312-7314)cAa>cGa	p.Q2438R	DNAH6_ENST00000398278.2_Missense_Mutation_p.Q2389R|DNAH6_ENST00000602588.1_Missense_Mutation_p.Q410R|DNAH6_ENST00000389394.3_Missense_Mutation_p.Q2438R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2438	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGATACGTCAAGAAAGAGGC	0.493																																					p.Q2438R		Atlas-SNP	.											.	DNAH6	194	.	0			c.A7313G						PASS	.						127.0	107.0	113.0					2																	84921393		692	1591	2283	SO:0001583	missense	1768	exon46			TACGTCAAGAAAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7313A>G	2.37:g.84921393A>G	ENSP00000237449:p.Gln2438Arg	101.0	0.0	0		103.0	35.0	0.339806	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645427	0.87859	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.41400	1.0;1.0;1.0	5.47	5.47	0.80525	Dynein heavy chain, P-loop containing D4 domain (1);	.	.	.	.	T	0.72104	0.3419	M	0.92833	3.35	0.49130	D	0.999757	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.975	T	0.79550	-0.1757	9	0.66056	D	0.02	.	14.5287	0.67909	1.0:0.0:0.0:0.0	.	2438;2389	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	R	2438;2389;2438	ENSP00000374045:Q2438R;ENSP00000381326:Q2389R;ENSP00000237449:Q2438R	ENSP00000237449:Q2438R	Q	+	2	0	DNAH6	84774904	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.088000	0.89523	2.074000	0.62210	0.533000	0.62120	CAA	.	.	none		0.493	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
FOXO1	2308	hgsc.bcm.edu	37	13	41239864	41239864	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr13:41239864G>C	ENST00000379561.5	-	1	870	c.486C>G	c.(484-486)aaC>aaG	p.N162K		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	162					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CGTAGGACAGGTTGCCCCACG	0.716																																					p.N162K		Atlas-SNP	.											.	FOXO1	110	.	0			c.C486G						PASS	.						22.0	19.0	20.0					13																	41239864		2203	4300	6503	SO:0001583	missense	2308	exon1			GGACAGGTTGCCC		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.486C>G	13.37:g.41239864G>C	ENSP00000368880:p.Asn162Lys	31.0	0.0	0		32.0	14.0	0.4375	NM_002015	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206797	0.58343	.	.	ENSG00000150907	ENST00000379561	D	0.94650	-3.48	3.56	3.56	0.40772	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.66378	2.025	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.96689	0.9509	10	0.66056	D	0.02	-10.4108	14.0952	0.65016	0.0:0.0:1.0:0.0	.	162	Q12778	FOXO1_HUMAN	K	162	ENSP00000368880:N162K	ENSP00000368880:N162K	N	-	3	2	FOXO1	40137864	.	.	1.000000	0.80357	0.511000	0.34104	.	.	1.693000	0.51124	0.563000	0.77884	AAC	.	.	none		0.716	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015	
TMEM214	54867	hgsc.bcm.edu	37	2	27260571	27260571	+	Splice_Site	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:27260571G>A	ENST00000238788.9	+	9	1214		c.e9+1		TMEM214_ENST00000404032.3_Splice_Site	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214						apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAAGAAAGAGGTGAGGATATG	0.557																																					.		Atlas-SNP	.											.	TMEM214	41	.	0			c.1017+1G>A						PASS	.						87.0	87.0	87.0					2																	27260571		1896	4122	6018	SO:0001630	splice_region_variant	54867	exon8			AAAGAGGTGAGGA		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1152+1G>A	2.37:g.27260571G>A		145.0	0.0	0		150.0	40.0	0.266667	NM_001083590	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Splice_Site	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175815	0.78564	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000425720	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2941	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM214	27114075	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.222000	0.95196	2.700000	0.92200	0.561000	0.74099	.	.	.	none		0.557	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	Intron
ADAM21	8747	hgsc.bcm.edu	37	14	70926009	70926009	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:70926009G>A	ENST00000603540.1	+	2	2051	c.1793G>A	c.(1792-1794)aGg>aAg	p.R598K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.R598K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	598	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATCATTTAAGGATGAACATA	0.423																																					p.R598K		Atlas-SNP	.											.	ADAM21	181	.	0			c.G1793A						PASS	.						153.0	139.0	144.0					14																	70926009		2203	4300	6503	SO:0001583	missense	8747	exon2			ATTTAAGGATGAA	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1793G>A	14.37:g.70926009G>A	ENSP00000474385:p.Arg598Lys	205.0	0.0	0		234.0	66.0	0.282051	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344640	0.11126	.	.	ENSG00000139985	ENST00000267499	T	0.20738	2.05	4.49	2.62	0.31277	ADAM, cysteine-rich (2);	0.545816	0.14800	U	0.297713	T	0.12220	0.0297	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.25257	-1.0137	10	0.72032	D	0.01	.	11.0101	0.47657	0.1552:0.0:0.8448:0.0	.	598	Q9UKJ8	ADA21_HUMAN	K	598	ENSP00000267499:R598K	ENSP00000267499:R598K	R	+	2	0	ADAM21	69995762	0.999000	0.42202	0.011000	0.14972	0.043000	0.13939	3.198000	0.51035	0.608000	0.30000	0.563000	0.77884	AGG	.	.	none		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
OTUD4	54726	hgsc.bcm.edu	37	4	146059393	146059393	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:146059393T>C	ENST00000447906.2	-	21	2721	c.2534A>G	c.(2533-2535)aAt>aGt	p.N845S	OTUD4_ENST00000454497.2_Missense_Mutation_p.N780S|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	845					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAGAATGGATTGGGTCCAAA	0.463																																					p.N780S		Atlas-SNP	.											.	OTUD4	120	.	0			c.A2339G						PASS	.						64.0	60.0	61.0					4																	146059393		2203	4298	6501	SO:0001583	missense	54726	exon21			AATGGATTGGGTC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2534A>G	4.37:g.146059393T>C	ENSP00000395487:p.Asn845Ser	152.0	0.0	0		140.0	45.0	0.321429	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	T	3.667	-0.068360	0.07228	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.30981	1.51;1.51	5.89	-0.53	0.11898	.	0.310609	0.31188	N	0.008087	T	0.15349	0.0370	N	0.17082	0.46	0.21064	N	0.999798	B;B	0.29378	0.243;0.157	B;B	0.26310	0.068;0.031	T	0.26018	-1.0115	10	0.17832	T	0.49	-11.1144	11.9038	0.52699	0.0:0.4566:0.0:0.5433	.	845;844	G3V0I6;Q01804	.;OTUD4_HUMAN	S	780;845	ENSP00000409279:N780S;ENSP00000395487:N845S	ENSP00000395487:N845S	N	-	2	0	OTUD4	146278843	0.782000	0.28689	0.680000	0.29994	0.501000	0.33797	0.126000	0.15769	-0.066000	0.12998	-0.400000	0.06385	AAT	.	.	none		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
CAMP	820	hgsc.bcm.edu	37	3	48265112	48265112	+	Silent	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:48265112A>G	ENST00000576243.1	+	1	251	c.111A>G	c.(109-111)gaA>gaG	p.E37E	CAMP_ENST00000296435.2_Silent_p.E40E			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	37					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTACAAGGAAGCTGTGCTTC	0.612																																					p.E40E		Atlas-SNP	.											.	CAMP	12	.	0			c.A120G						PASS	.						96.0	78.0	84.0					3																	48265112		2203	4300	6503	SO:0001819	synonymous_variant	820	exon1			CAAGGAAGCTGTG	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"""Endogenous ligands"""	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.111A>G	3.37:g.48265112A>G		65.0	0.0	0		78.0	18.0	0.230769	NM_004345	Q71SN9	Silent	SNP	ENST00000576243.1	37																																																																																				.	.	none		0.612	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345	
TMEM62	80021	hgsc.bcm.edu	37	15	43476576	43476576	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:43476576T>C	ENST00000260403.2	+	14	2003	c.1724T>C	c.(1723-1725)gTt>gCt	p.V575A	CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR|CCNDBP1_ENST00000300213.4_5'Flank|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	575						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATTATGCCTGTTCACCTACTT	0.443																																					p.V575A		Atlas-SNP	.											.	TMEM62	47	.	0			c.T1724C						PASS	.						246.0	235.0	239.0					15																	43476576		2203	4299	6502	SO:0001583	missense	80021	exon14			TGCCTGTTCACCT	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1724T>C	15.37:g.43476576T>C	ENSP00000260403:p.Val575Ala	216.0	0.0	0		239.0	66.0	0.276151	NM_024956	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430817	0.62844	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.13	3.95	0.45737	.	0.244558	0.41500	D	0.000868	T	0.59595	0.2205	L	0.50333	1.59	0.41888	D	0.990353	P	0.52316	0.952	P	0.50860	0.652	T	0.64093	-0.6488	9	0.56958	D	0.05	-6.2758	12.2964	0.54849	0.0:0.0:0.1408:0.8592	.	575	Q0P6H9	TMM62_HUMAN	A	575	.	ENSP00000260403:V575A	V	+	2	0	TMEM62	41263868	0.994000	0.37717	1.000000	0.80357	0.918000	0.54935	4.208000	0.58486	2.153000	0.67306	0.459000	0.35465	GTT	.	.	none		0.443	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956	
HIST1H2BK	85236	hgsc.bcm.edu	37	6	27114200	27114200	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27114200C>T	ENST00000356950.1	-	1	377	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.K126K|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	126					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGCAAGTTTACTTAGCGCTGG	0.542																																					p.K126K		Atlas-SNP	.											.	HIST1H2BK	68	.	0			c.G378A						PASS	.						82.0	89.0	87.0					6																	27114200		2202	4299	6501	SO:0001819	synonymous_variant	85236	exon1			AGTTTACTTAGCG	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.378G>A	6.37:g.27114200C>T		135.0	0.0	0		137.0	49.0	0.357664	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.	.	none		0.542	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
ZNF208	7757	hgsc.bcm.edu	37	19	22156863	22156863	+	Missense_Mutation	SNP	C	C	A	rs202200782		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:22156863C>A	ENST00000397126.4	-	4	1121	c.973G>T	c.(973-975)Gtc>Ttc	p.V325F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V325F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGACCTTACTGAAG	0.403																																					p.V325F		Atlas-SNP	.											ZNF208_ENST00000428290,NS,carcinoma,0,7	ZNF208	817	7	1	Substitution - Missense(1)	NS(1)	c.G973T						scavenged	.						66.0	68.0	67.0					19																	22156863		1946	3920	5866	SO:0001583	missense	7757	exon4			TTGAGACCTTACT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.973G>T	19.37:g.22156863C>A	ENSP00000380315:p.Val325Phe	72.0	1.0	0.0138889		25.0	4.0	0.16	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286883	0.01387	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.38560	1.13	2.93	-5.86	0.02304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10428	-1.0630	8	0.39692	T	0.17	.	0.9385	0.01350	0.2555:0.1041:0.2969:0.3435	.	325	O43345	ZN208_HUMAN	F	325	ENSP00000380315:V325F	ENSP00000380315:V325F	V	-	1	0	ZNF208	21948703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.688000	0.00392	-2.968000	0.00287	-2.283000	0.00269	GTC	C|0.996;A|0.004	0.004	weak		0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
HIST1H1B	3009	hgsc.bcm.edu	37	6	27834916	27834916	+	Missense_Mutation	SNP	G	G	A	rs199758872		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27834916G>A	ENST00000331442.3	-	1	443	c.392C>T	c.(391-393)gCt>gTt	p.A131V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	131					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGGCTTCTTAGCTTTAGCGGC	0.607																																					p.A131V		Atlas-SNP	.											.	HIST1H1B	54	.	0			c.C392T						PASS	.						81.0	96.0	91.0					6																	27834916		2203	4299	6502	SO:0001583	missense	3009	exon1			TTCTTAGCTTTAG	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.392C>T	6.37:g.27834916G>A	ENSP00000330074:p.Ala131Val	108.0	0.0	0		136.0	40.0	0.294118	NM_005322	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.95	2.687908	0.48097	.	.	ENSG00000184357	ENST00000331442	T	0.16897	2.31	5.19	5.19	0.71726	.	0.194604	0.42548	D	0.000695	T	0.06096	0.0158	N	0.08118	0	0.50313	D	0.999862	B	0.23316	0.083	B	0.32090	0.14	T	0.32955	-0.9887	10	0.34782	T	0.22	-2.5827	18.087	0.89461	0.0:0.0:1.0:0.0	.	131	P16401	H15_HUMAN	V	131	ENSP00000330074:A131V	ENSP00000330074:A131V	A	-	2	0	HIST1H1B	27942895	0.843000	0.29541	0.031000	0.17742	0.597000	0.36814	4.678000	0.61641	2.600000	0.87896	0.655000	0.94253	GCT	G|1.000;A|0.000	0.000	strong		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322	
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77334232	77334232	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:77334232G>A	ENST00000477717.1	+	2	301	c.66G>A	c.(64-66)ttG>ttA	p.L22L	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	22					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCACCAGCTTGTTGCTAGTGT	0.672																																					p.L22L		Atlas-SNP	.											.	ST6GALNAC5	59	.	0			c.G66A						PASS	.						34.0	32.0	32.0					1																	77334232		2203	4299	6502	SO:0001819	synonymous_variant	81849	exon2			CAGCTTGTTGCTA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.66G>A	1.37:g.77334232G>A		203.0	0.0	0		210.0	50.0	0.238095	NM_030965	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																			.	.	none		0.672	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
ADAMTS2	9509	hgsc.bcm.edu	37	5	178549748	178549748	+	Silent	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:178549748G>T	ENST00000251582.7	-	20	3086	c.2985C>A	c.(2983-2985)acC>acA	p.T995T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	995	TSP type-1 4. {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)		GCCGCTCCTGGGTGCCGTTGC	0.682																																					p.T995T		Atlas-SNP	.											.	ADAMTS2	190	.	0			c.C2985A						PASS	.						17.0	18.0	18.0					5																	178549748		2147	4234	6381	SO:0001819	synonymous_variant	9509	exon20			CTCCTGGGTGCCG	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.2985C>A	5.37:g.178549748G>T		55.0	0.0	0		79.0	17.0	0.21519	NM_014244		Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																			.	.	none		0.682	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
DCAF12	25853	hgsc.bcm.edu	37	9	34125210	34125210	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:34125210G>A	ENST00000361264.4	-	2	485	c.144C>T	c.(142-144)taC>taT	p.Y48Y	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	48					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCTTCAAGTAGTATACTAAGG	0.463																																					p.Y48Y		Atlas-SNP	.											.	DCAF12	37	.	0			c.C144T						PASS	.						90.0	85.0	86.0					9																	34125210		2203	4300	6503	SO:0001819	synonymous_variant	25853	exon2			CAAGTAGTATACT	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.144C>T	9.37:g.34125210G>A		83.0	0.0	0		83.0	24.0	0.289157	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	ENST00000361264.4	37	CCDS6549.1																																																																																			.	.	none		0.463	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397	
HEATR5A	25938	hgsc.bcm.edu	37	14	31819064	31819064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:31819064C>T	ENST00000389961.3	-	17	2620	c.2621G>A	c.(2620-2622)tGg>tAg	p.W874*	HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.W880*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.W880*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.W874*|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.W587*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	874										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAATCTAGCCCATGACTCTGC	0.418																																					p.W880X		Atlas-SNP	.											.	HEATR5A	181	.	0			c.G2639A						PASS	.						54.0	53.0	54.0					14																	31819064		1882	4119	6001	SO:0001587	stop_gained	25938	exon18			CTAGCCCATGACT	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2621G>A	14.37:g.31819064C>T	ENSP00000374611:p.Trp874*	94.0	0.0	0		76.0	22.0	0.289474	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	6.641922|6.641922|6.641922	0.97726|0.97726|0.97726	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000550366|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.237405	.|.|0.36101	.|.|N	.|.|0.002798	T|T|.	0.62405|0.62405|.	0.2425|0.2425|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.68157|0.68157|.	-0.5483|-0.5483|.	3|3|.	.|.|0.33940	.|.|T	.|.|0.23	.|.|.	13.1556|13.1556|13.1556	0.59516|0.59516|0.59516	0.3025:0.6975:0.0:0.0|0.3025:0.6975:0.0:0.0|0.3025:0.6975:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	R|I|X	508|522|874;874;587;880;880	.|.|.	.|.|ENSP00000374611:W874X	G|M|W	-|-|-	1|3|2	0|0|0	HEATR5A|HEATR5A|HEATR5A	30888815|30888815|30888815	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.897000|0.897000|0.897000	0.52465|0.52465|0.52465	4.312000|4.312000|4.312000	0.59154|0.59154|0.59154	2.587000|2.587000|2.587000	0.87381|0.87381|0.87381	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|ATG|TGG	.	.	none		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
KHDRBS2	202559	hgsc.bcm.edu	37	6	62887168	62887168	+	Missense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:62887168C>A	ENST00000281156.4	-	2	419	c.141G>T	c.(139-141)aaG>aaT	p.K47N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.K47N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAAGATACTTCTTTTCTTCGT	0.338																																					p.K47N		Atlas-SNP	.											KHDRBS2,NS,carcinoma,0,1	KHDRBS2	103	1	1	Substitution - Missense(1)	endometrium(1)	c.G141T						PASS	.						130.0	119.0	123.0					6																	62887168		2200	4299	6499	SO:0001583	missense	202559	exon2			ATACTTCTTTTCT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.141G>T	6.37:g.62887168C>A	ENSP00000281156:p.Lys47Asn	142.0	0.0	0		83.0	31.0	0.373494	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364326	0.24684	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.15952	2.38	5.25	4.38	0.52667	.	0.265109	0.42172	D	0.000744	T	0.06781	0.0173	L	0.51422	1.61	0.58432	D	0.999994	P	0.36683	0.565	B	0.33454	0.164	T	0.15636	-1.0430	10	0.19147	T	0.46	-3.2222	12.7929	0.57545	0.0:0.9205:0.0:0.0794	.	47	Q5VWX1	KHDR2_HUMAN	N	47	ENSP00000281156:K47N	ENSP00000281156:K47N	K	-	3	2	KHDRBS2	62945127	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.714000	0.54889	1.211000	0.43351	0.460000	0.39030	AAG	.	.	none		0.338	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
UBE2A	7319	hgsc.bcm.edu	37	X	118708862	118708862	+	Splice_Site	SNP	A	A	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chrX:118708862A>C	ENST00000371558.2	+	2	218		c.e2-1		UBE2A_ENST00000346330.3_Splice_Site|UBE2A_ENST00000469205.1_Splice_Site	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GTCTTCCCGAAGGTTGCAGGA	0.697								Rad6 pathway																													.		Atlas-SNP	.											.	UBE2A	43	.	0			c.45-2A>C						PASS	.						129.0	105.0	113.0					X																	118708862		2203	4300	6503	SO:0001630	splice_region_variant	7319	exon2			TCCCGAAGGTTGC	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.45-1A>C	X.37:g.118708862A>C		152.0	0.0	0		167.0	74.0	0.443114	NM_181762	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Splice_Site	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371271	0.42003	.	.	ENSG00000077721	ENST00000371558;ENST00000346330	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.22	0.37370	0.8043:0.1957:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2A	118592890	1.000000	0.71417	0.966000	0.40874	0.394000	0.30568	8.517000	0.90555	1.709000	0.51313	0.430000	0.28490	.	.	.	none		0.697	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	Intron
LRRN3	54674	hgsc.bcm.edu	37	7	110764565	110764565	+	Silent	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:110764565T>C	ENST00000422987.3	+	2	2568	c.1737T>C	c.(1735-1737)aaT>aaC	p.N579N	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.N579N|LRRN3_ENST00000308478.5_Silent_p.N579N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	579	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGGTATATAATCTTACTCATC	0.343																																					p.N579N		Atlas-SNP	.											.	LRRN3	132	.	0			c.T1737C						PASS	.						52.0	49.0	50.0					7																	110764565		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			ATATAATCTTACT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1737T>C	7.37:g.110764565T>C		48.0	0.0	0		48.0	16.0	0.333333	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			.	.	none		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
ABCD4	5826	hgsc.bcm.edu	37	14	74762572	74762572	+	Missense_Mutation	SNP	A	A	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:74762572A>T	ENST00000356924.4	-	6	796	c.653T>A	c.(652-654)cTg>cAg	p.L218Q	ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.L131Q|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	218	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ATCTCCCTCCAGCTTCTCCTG	0.502																																					p.L218Q		Atlas-SNP	.											.	ABCD4	54	.	0			c.T653A						PASS	.						91.0	84.0	86.0					14																	74762572		2203	4300	6503	SO:0001583	missense	5826	exon6			CCCTCCAGCTTCT	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.653T>A	14.37:g.74762572A>T	ENSP00000349396:p.Leu218Gln	61.0	0.0	0		72.0	21.0	0.291667	NM_005050	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.957277|3.957277	0.73902|0.73902	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000556971	D;D|.	0.99745|.	-6.61;-6.61|.	5.46|5.46	5.46|5.46	0.80206|0.80206	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74913|0.74913	0.3779|0.3779	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	B;P;P|.	0.38677|.	0.39;0.642;0.642|.	B;P;P|.	0.48334|.	0.372;0.574;0.574|.	T|T	0.75608|0.75608	-0.3259|-0.3259	10|5	0.52906|.	T|.	0.07|.	.|.	15.55|15.55	0.76141|0.76141	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	131;218;218|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	Q|R	218;131|178	ENSP00000349396:L218Q;ENSP00000298816:L131Q|.	ENSP00000298816:L131Q|.	L|W	-|-	2|1	0|0	ABCD4|ABCD4	73832325|73832325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.198000|9.198000	0.94994|0.94994	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	CTG|TGG	.	.	none		0.502	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050	
LRAT	9227	hgsc.bcm.edu	37	4	155665953	155665953	+	Missense_Mutation	SNP	A	A	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:155665953A>C	ENST00000336356.3	+	2	728	c.475A>C	c.(475-477)Aac>Cac	p.N159H	LRAT_ENST00000507827.1_Missense_Mutation_p.N159H	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	159					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CCTGCTGTGGAACAACTGCGA	0.592																																					p.N159H		Atlas-SNP	.											.	LRAT	29	.	0			c.A475C						PASS	.						73.0	78.0	76.0					4																	155665953		2203	4300	6503	SO:0001583	missense	9227	exon2			CTGTGGAACAACT	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.475A>C	4.37:g.155665953A>C	ENSP00000337224:p.Asn159His	51.0	0.0	0		35.0	9.0	0.257143	NM_004744	A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748540	0.69533	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.27402	1.67;1.67	5.5	4.31	0.51392	NC (1);	0.082456	0.85682	D	0.000000	T	0.51295	0.1666	M	0.91510	3.215	0.48975	D	0.999739	P	0.43578	0.811	P	0.49561	0.615	T	0.56589	-0.7954	10	0.42905	T	0.14	-23.6927	11.4728	0.50280	0.9293:0.0:0.0707:0.0	.	159	O95237	LRAT_HUMAN	H	159	ENSP00000426761:N159H;ENSP00000337224:N159H	ENSP00000337224:N159H	N	+	1	0	LRAT	155885403	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.228000	0.78079	0.925000	0.37094	-0.462000	0.05337	AAC	.	.	none		0.592	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744	
DUSP27	92235	hgsc.bcm.edu	37	1	167096795	167096795	+	Silent	SNP	G	G	A	rs142434634	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:167096795G>A	ENST00000361200.2	+	6	2593	c.2427G>A	c.(2425-2427)gcG>gcA	p.A809A	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.A809A|DUSP27_ENST00000443333.1_Silent_p.A809A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	809					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTCACCCGCGGAAAGTTGCA	0.572													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22206	0.0		0.0	False		,,,				2504	0.0				p.A809A		Atlas-SNP	.											DUSP27,right_upper_lobe,carcinoma,0,1	DUSP27	235	1	0			c.G2427A						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	78.0		2427	-10.1	0.0	1	dbSNP_134	78	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	DUSP27	NM_001080426.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		809/1159	167096795	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	92235	exon5			ACCCGCGGAAAGT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2427G>A	1.37:g.167096795G>A		72.0	0.0	0		81.0	15.0	0.185185	NM_001080426	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																			G|0.999;A|0.001	0.001	strong		0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
KCNN2	3781	hgsc.bcm.edu	37	5	113698763	113698763	+	Silent	SNP	C	C	T	rs368298090	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:113698763C>T	ENST00000512097.3	+	2	1309	c.291C>T	c.(289-291)ggC>ggT	p.G97G	KCNN2_ENST00000264773.3_Silent_p.G97G			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	97	Poly-Gly.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	gcggcggtggcgggagcgggc	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		12844	0.0		0.0	False		,,,				2504	0.0031				p.G97G		Atlas-SNP	.											.	KCNN2	144	.	0			c.C291T						PASS	.	C		0,4384		0,0,2192	23.0	24.0	24.0		291	-2.4	1.0	5		24	1,8587		0,1,4293	no	coding-synonymous	KCNN2	NM_021614.2		0,1,6485	TT,TC,CC		0.0116,0.0,0.0077		97/580	113698763	1,12971	2192	4294	6486	SO:0001819	synonymous_variant	3781	exon1			CGGTGGCGGGAGC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.291C>T	5.37:g.113698763C>T		29.0	0.0	0		49.0	9.0	0.183673	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	CCDS4114.1																																																																																			.	.	weak		0.637	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
PTPN6	5777	hgsc.bcm.edu	37	12	7061261	7061261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:7061261C>T	ENST00000318974.9	+	3	491	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	PTPN6_ENST00000447931.2_Nonsense_Mutation_p.Q44*|PTPN6_ENST00000456013.1_Nonsense_Mutation_p.Q83*|PTPN6_ENST00000399448.1_Nonsense_Mutation_p.Q85*	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	83	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACTCAGCAGCAGGGTGTCCT	0.582																																					p.Q85X		Atlas-SNP	.											.	PTPN6	42	.	0			c.C253T						PASS	.						109.0	128.0	122.0					12																	7061261		2199	4299	6498	SO:0001587	stop_gained	5777	exon3			CAGCAGCAGGGTG		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.247C>T	12.37:g.7061261C>T	ENSP00000326010:p.Gln83*	77.0	0.0	0		77.0	26.0	0.337662	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Nonsense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	37	6.099851	0.97281	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	.	.	.	4.68	4.68	0.58851	.	0.198796	0.43747	D	0.000523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3729	0.60723	0.0:0.842:0.158:0.0	.	.	.	.	X	104;85;44;83;83;83;83;83;42	.	ENSP00000326010:Q83X	Q	+	1	0	PTPN6	6931522	1.000000	0.71417	0.862000	0.33874	0.890000	0.51754	4.947000	0.63583	2.149000	0.67028	0.561000	0.74099	CAG	.	.	none		0.582	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
SPECC1	92521	hgsc.bcm.edu	37	17	20107645	20107645	+	Splice_Site	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:20107645G>T	ENST00000261503.5	+	4	334		c.e4-1		SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Splice_Site|SPECC1_ENST00000395530.2_Splice_Site|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Splice_Site|SPECC1_ENST00000395529.3_Splice_Site|SPECC1_ENST00000395522.2_Splice_Site	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CTGTCTTTAAGGGGCCTTTAC	0.438																																					.		Atlas-SNP	.											.	SPECC1	100	.	0			c.284-1G>T						PASS	.						118.0	130.0	126.0					17																	20107645		2203	4300	6503	SO:0001630	splice_region_variant	92521	exon4			CTTTAAGGGGCCT	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.284-1G>T	17.37:g.20107645G>T		33.0	0.0	0		51.0	11.0	0.215686	NM_001243439	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691542	0.30052	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4284	0.83832	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPECC1	20048237	1.000000	0.71417	0.747000	0.31113	0.277000	0.26821	6.642000	0.74329	2.558000	0.86282	0.591000	0.81541	.	.	.	none		0.438	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Intron
CABIN1	23523	hgsc.bcm.edu	37	22	24447360	24447360	+	Nonsense_Mutation	SNP	C	C	T	rs556308783		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr22:24447360C>T	ENST00000398319.2	+	8	1115	c.730C>T	c.(730-732)Cga>Tga	p.R244*	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.R244*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	244					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGGGGCTGCGAAAAAAGAG	0.517																																					p.R244X		Atlas-SNP	.											.	CABIN1	153	.	0			c.C730T						PASS	.						117.0	103.0	108.0					22																	24447360		2203	4300	6503	SO:0001587	stop_gained	23523	exon8			GGGCTGCGAAAAA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.730C>T	22.37:g.24447360C>T	ENSP00000381364:p.Arg244*	93.0	0.0	0		92.0	26.0	0.282609	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901417	0.92035	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	.	.	.	5.21	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5723	0.68220	0.1475:0.8525:0.0:0.0	.	.	.	.	X	199;244;199;244;244	.	ENSP00000263119:R244X	R	+	1	2	CABIN1	22777360	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	2.687000	0.46976	1.326000	0.45319	-0.329000	0.08387	CGA	.	.	none		0.517	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
MYH1	4619	hgsc.bcm.edu	37	17	10400708	10400708	+	Missense_Mutation	SNP	T	T	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:10400708T>G	ENST00000226207.5	-	32	4521	c.4427A>C	c.(4426-4428)aAg>aCg	p.K1476T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1476					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCGGGATTCCTTTTGAGAAGC	0.383																																					p.K1476T		Atlas-SNP	.											.	MYH1	403	.	0			c.A4427C						PASS	.						79.0	77.0	77.0					17																	10400708		2203	4300	6503	SO:0001583	missense	4619	exon32			GATTCCTTTTGAG		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4427A>C	17.37:g.10400708T>G	ENSP00000226207:p.Lys1476Thr	124.0	0.0	0		134.0	35.0	0.261194	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182577	0.78677	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80214	-1.35	5.7	5.7	0.88788	Myosin tail (1);	0.000000	0.45361	U	0.000378	D	0.88621	0.6486	M	0.84585	2.705	0.58432	D	0.999999	D	0.55385	0.971	P	0.55508	0.777	D	0.90399	0.4401	10	0.72032	D	0.01	.	16.2494	0.82473	0.0:0.0:0.0:1.0	.	1476	P12882	MYH1_HUMAN	T	1476;565	ENSP00000226207:K1476T	ENSP00000226207:K1476T	K	-	2	0	MYH1	10341433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.991000	0.88244	2.287000	0.76781	0.533000	0.62120	AAG	.	.	none		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
C1orf101	257044	hgsc.bcm.edu	37	1	244769022	244769022	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:244769022G>A	ENST00000366534.4	+	18	2383	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.D626N|C1orf101_ENST00000366533.4_Missense_Mutation_p.D777N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	777						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CTATGTTAAAGACGTTGAAGC	0.353																																					p.D777N		Atlas-SNP	.											.	C1orf101	158	.	0			c.G2329A						PASS	.						127.0	124.0	125.0					1																	244769022		2203	4300	6503	SO:0001583	missense	257044	exon18			GTTAAAGACGTTG	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2329G>A	1.37:g.244769022G>A	ENSP00000355492:p.Asp777Asn	133.0	0.0	0		135.0	33.0	0.244444	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060538	0.36373	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.36	0.0116	0.14088	.	1.258880	0.05240	N	0.511932	T	0.40694	0.1127	L	0.53249	1.67	0.09310	N	1	B;P;D;D	0.76494	0.1;0.872;0.999;0.991	B;P;D;P	0.66351	0.046;0.529;0.943;0.883	T	0.20371	-1.0277	10	0.62326	D	0.03	.	4.3263	0.11041	0.2737:0.3237:0.4026:0.0	.	697;777;777;626	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	777;777;777;697;626	ENSP00000355492:D777N;ENSP00000355491:D777N;ENSP00000395796:D697N;ENSP00000355489:D626N	ENSP00000355489:D626N	D	+	1	0	C1orf101	242835645	0.865000	0.29922	0.001000	0.08648	0.005000	0.04900	0.641000	0.24720	-0.030000	0.13804	0.585000	0.79938	GAC	.	.	none		0.353	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
GPR149	344758	hgsc.bcm.edu	37	3	154139035	154139035	+	Silent	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:154139035T>C	ENST00000389740.2	-	3	1515	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	472					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TATTTGTGCATTTGTTGATGC	0.398																																					p.K472K		Atlas-SNP	.											.	GPR149	134	.	0			c.A1416G						PASS	.						303.0	289.0	293.0					3																	154139035		1965	4147	6112	SO:0001819	synonymous_variant	344758	exon3			TGTGCATTTGTTG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1416A>G	3.37:g.154139035T>C		240.0	0.0	0		251.0	66.0	0.262948	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																			.	.	none		0.398	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
CDK11A	728642	hgsc.bcm.edu	37	1	1647901	1647901	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:1647901C>T	ENST00000378633.1	-	5	421	c.342G>A	c.(340-342)gtG>gtA	p.V114V	CDK11A_ENST00000404249.3_Silent_p.V124V|CDK11A_ENST00000358779.5_Silent_p.V114V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Silent_p.V114V|CDK11A_ENST00000378638.2_Silent_p.V90V|CDK11A_ENST00000356200.3_Silent_p.V90V|CDK11A_ENST00000357760.2_Silent_p.V114V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	114	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTCTTTCTTTCACTCTAGCAT	0.483																																					p.V124V	Pancreas(186;965 2119 30274 40311 50569)	Atlas-SNP	.											.	CDK11B	37	.	0			c.G372A						PASS	.						124.0	116.0	118.0					1																	1647901		1896	4118	6014	SO:0001819	synonymous_variant	984	exon5			TTCTTTCACTCTA	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.342G>A	1.37:g.1647901C>T		212.0	0.0	0		238.0	14.0	0.0588235	NM_033486	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																				.	.	none		0.483	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
RNF40	9810	hgsc.bcm.edu	37	16	30778068	30778068	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:30778068G>A	ENST00000324685.6	+	11	1735	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RNF40_ENST00000357890.5_Missense_Mutation_p.E334K|RNF40_ENST00000402121.3_Missense_Mutation_p.E126K|RNF40_ENST00000563683.1_Missense_Mutation_p.E394K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	434					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACAGAGCGACGAGCTGGGGCT	0.572																																					p.E434K		Atlas-SNP	.											.	RNF40	83	.	0			c.G1300A						PASS	.						60.0	44.0	50.0					16																	30778068		2197	4300	6497	SO:0001583	missense	9810	exon11			AGCGACGAGCTGG	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1300G>A	16.37:g.30778068G>A	ENSP00000325677:p.Glu434Lys	32.0	0.0	0		30.0	9.0	0.3	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422441	0.96111	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.58210	0.93;0.76;0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	T	0.76252	-0.3027	10	0.45353	T	0.12	-15.5499	19.4154	0.94694	0.0:0.0:1.0:0.0	.	126;334;434;434	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	K	434;334;126	ENSP00000325677:E434K;ENSP00000350563:E334K;ENSP00000384942:E126K	ENSP00000325677:E434K	E	+	1	0	RNF40	30685569	1.000000	0.71417	0.994000	0.49952	0.770000	0.43624	9.164000	0.94755	2.884000	0.98904	0.655000	0.94253	GAG	.	.	none		0.572	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
QSER1	79832	hgsc.bcm.edu	37	11	32975559	32975559	+	Missense_Mutation	SNP	A	A	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:32975559A>T	ENST00000399302.2	+	5	4282	c.3947A>T	c.(3946-3948)aAg>aTg	p.K1316M	QSER1_ENST00000527788.1_Missense_Mutation_p.K1077M	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1316										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATCCTCAAAGCCCATTGAA	0.433																																					p.K1316M		Atlas-SNP	.											.	QSER1	153	.	0			c.A3947T						PASS	.						84.0	80.0	81.0					11																	32975559		1891	4106	5997	SO:0001583	missense	79832	exon5			CCTCAAAGCCCAT	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3947A>T	11.37:g.32975559A>T	ENSP00000382241:p.Lys1316Met	87.0	0.0	0		78.0	19.0	0.24359	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.99|11.99	1.804089|1.804089	0.31869|0.31869	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.27557|.	1.99;1.66|.	5.92|5.92	3.59|3.59	0.41128|0.41128	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.57536|0.57536	1.79|1.79	0.33676|0.33676	D|D	0.611481|0.611481	D;D;D|.	0.71674|.	0.998;0.969;0.983|.	D;P;P|.	0.63113|.	0.911;0.719;0.62|.	T|T	0.61744|0.61744	-0.7000|-0.7000	10|5	0.72032|.	D|.	0.01|.	.|.	8.6295|8.6295	0.33911|0.33911	0.798:0.1346:0.0675:0.0|0.798:0.1346:0.0675:0.0	.|.	1077;1077;1316|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	M|C	1316;1077;1077|337	ENSP00000382241:K1316M;ENSP00000432766:K1077M|.	ENSP00000078652:K1077M|.	K|S	+|+	2|1	0|0	QSER1|QSER1	32932135|32932135	0.990000|0.990000	0.36364|0.36364	0.149000|0.149000	0.22428|0.22428	0.006000|0.006000	0.05464|0.05464	3.184000|3.184000	0.50926|0.50926	0.488000|0.488000	0.27723|0.27723	-0.361000|-0.361000	0.07541|0.07541	AAG|AGC	.	.	none		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
PLEC	5339	hgsc.bcm.edu	37	8	144997818	144997818	+	Silent	SNP	C	C	T	rs539190005		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:144997818C>T	ENST00000322810.4	-	31	6859	c.6690G>A	c.(6688-6690)gcG>gcA	p.A2230A	PLEC_ENST00000356346.3_Silent_p.A2079A|PLEC_ENST00000398774.2_Silent_p.A2061A|PLEC_ENST00000436759.2_Silent_p.A2120A|PLEC_ENST00000354958.2_Silent_p.A2071A|PLEC_ENST00000527096.1_Silent_p.A2116A|PLEC_ENST00000357649.2_Silent_p.A2097A|PLEC_ENST00000345136.3_Silent_p.A2093A|PLEC_ENST00000354589.3_Silent_p.A2093A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2230	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGCCTCCTCCGCCTCCTCAG	0.736																																					p.A2230A		Atlas-SNP	.											.	PLEC	1144	.	0			c.G6690A						PASS	.						3.0	4.0	4.0					8																	144997818		1654	3519	5173	SO:0001819	synonymous_variant	5339	exon31			CTCCTCCGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6690G>A	8.37:g.144997818C>T		23.0	0.0	0		41.0	9.0	0.219512	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.	.	none		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
ANO3	63982	hgsc.bcm.edu	37	11	26664763	26664763	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:26664763G>A	ENST00000256737.3	+	23	3162	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	ANO3_ENST00000537978.1_Silent_p.A754A|ANO3_ENST00000525139.1_Silent_p.A754A|ANO3_ENST00000531568.1_Silent_p.A624A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	770					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTTTGTTGCGGCTTTTCCTC	0.383																																					p.A770A		Atlas-SNP	.											ANO3,right_upper_lobe,carcinoma,0,1	ANO3	145	1	0			c.G2310A						PASS	.						123.0	111.0	115.0					11																	26664763		2203	4299	6502	SO:0001819	synonymous_variant	63982	exon23			TGTTGCGGCTTTT	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2310G>A	11.37:g.26664763G>A		190.0	0.0	0		200.0	59.0	0.295	NM_031418	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																			.	.	none		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
WDR36	134430	hgsc.bcm.edu	37	5	110428002	110428002	+	Missense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:110428002G>T	ENST00000513710.2	+	1	20	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	WDR36_ENST00000506538.2_Missense_Mutation_p.G6C|WDR36_ENST00000505303.1_5'Flank|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	6					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTGCACTGAGGGCAGTCTCCG	0.592																																					p.G6C		Atlas-SNP	.											.	WDR36	111	.	0			c.G16T						PASS	.						80.0	85.0	84.0					5																	110428002		2202	4300	6502	SO:0001583	missense	134430	exon1			ACTGAGGGCAGTC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.16G>T	5.37:g.110428002G>T	ENSP00000424628:p.Gly6Cys	78.0	0.0	0		83.0	12.0	0.144578	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890516	0.33348	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.66815	-0.23;-0.23	5.33	-0.223	0.13118	.	2.121900	0.01992	N	0.045560	T	0.44871	0.1314	N	0.08118	0	0.09310	N	0.999995	P	0.35527	0.507	B	0.30105	0.111	T	0.44757	-0.9307	10	0.87932	D	0	5.157	6.0246	0.19648	0.3214:0.128:0.5506:0.0	.	6	Q8NI36	WDR36_HUMAN	C	6	ENSP00000423067:G6C;ENSP00000424628:G6C	ENSP00000423067:G6C	G	+	1	0	WDR36	110455901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.161000	0.16481	-0.142000	0.11354	0.655000	0.94253	GGC	.	.	none		0.592	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
MSLN	10232	hgsc.bcm.edu	37	16	815722	815722	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:815722C>T	ENST00000382862.3	+	10	922	c.827C>T	c.(826-828)tCt>tTt	p.S276F	MSLN_ENST00000566549.1_Missense_Mutation_p.S276F|MSLN_ENST00000563941.1_Missense_Mutation_p.S276F|MSLN_ENST00000545450.2_Missense_Mutation_p.S276F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	276	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S276F(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAACGCTCCTCTCGGGACCCA	0.716																																					p.S276F		Atlas-SNP	.											MSLN_ENST00000446427,NS,carcinoma,0,2	MSLN	109	2	2	Substitution - Missense(2)	lung(2)	c.C827T						scavenged	.						21.0	25.0	24.0					16																	815722		2176	4279	6455	SO:0001583	missense	10232	exon11			GCTCCTCTCGGGA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.827C>T	16.37:g.815722C>T	ENSP00000372313:p.Ser276Phe	81.0	2.0	0.0246914		76.0	16.0	0.210526	NM_005823	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621508	0.46736	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17854	2.25;2.25	4.67	-1.77	0.07982	.	1.359800	0.04991	U	0.467355	T	0.29256	0.0728	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.59357	0.981;0.985;0.981;0.981	P;D;P;P	0.63877	0.867;0.919;0.867;0.867	T	0.26883	-1.0090	10	0.38643	T	0.18	-7.6659	2.6096	0.04887	0.3551:0.2859:0.0:0.3591	.	275;276;276;276	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	F	276	ENSP00000442965:S276F;ENSP00000372313:S276F	ENSP00000372313:S276F	S	+	2	0	MSLN	755723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.874000	0.04210	-0.094000	0.12374	-1.167000	0.01749	TCT	.	.	none		0.716	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
ULK4	54986	hgsc.bcm.edu	37	3	41954353	41954353	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:41954353T>C	ENST00000301831.4	-	9	1304	c.842A>G	c.(841-843)aAg>aGg	p.K281R	ULK4_ENST00000420927.1_Missense_Mutation_p.K281R	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	281					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAAAGCTTTCTTCCAAAATGA	0.373																																					p.K281R		Atlas-SNP	.											.	ULK4	150	.	0			c.A842G						PASS	.						91.0	86.0	87.0					3																	41954353		1872	4096	5968	SO:0001583	missense	54986	exon9			GCTTTCTTCCAAA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.842A>G	3.37:g.41954353T>C	ENSP00000301831:p.Lys281Arg	72.0	0.0	0		88.0	24.0	0.272727	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	9.925	1.213261	0.22289	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.74106	-0.81;1.87	5.17	3.97	0.46021	Protein kinase-like domain (1);	0.592998	0.19166	N	0.121075	T	0.65984	0.2744	L	0.55103	1.725	0.80722	D	1	B;B	0.16396	0.017;0.007	B;B	0.12156	0.007;0.007	T	0.57888	-0.7733	10	0.29301	T	0.29	.	7.7383	0.28827	0.0:0.1693:0.0:0.8307	.	281;281	B4E2M4;Q96C45	.;ULK4_HUMAN	R	281	ENSP00000301831:K281R;ENSP00000412187:K281R	ENSP00000301831:K281R	K	-	2	0	ULK4	41929357	1.000000	0.71417	0.858000	0.33744	0.931000	0.56810	2.876000	0.48498	0.784000	0.33661	0.533000	0.62120	AAG	.	.	none		0.373	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
P2RX4	5025	hgsc.bcm.edu	37	12	121670290	121670290	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:121670290G>A	ENST00000337233.4	+	9	1266	c.958G>A	c.(958-960)Gac>Aac	p.D320N	P2RX4_ENST00000543171.1_Missense_Mutation_p.D219N|P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.D336N	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	320					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATCCGCTTCGACATCATTGT	0.597																																					p.D336N		Atlas-SNP	.											.	P2RX4	27	.	0			c.G1006A						PASS	.						98.0	81.0	87.0					12																	121670290		2203	4300	6503	SO:0001583	missense	5025	exon10			CGCTTCGACATCA	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.958G>A	12.37:g.121670290G>A	ENSP00000336607:p.Asp320Asn	59.0	0.0	0		56.0	13.0	0.232143	NM_001256796	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311696	0.95655	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.02	5.02	0.67125	.	0.090749	0.64402	D	0.000001	T	0.29061	0.0722	M	0.90369	3.11	0.58432	D	0.999997	P;P;P	0.52316	0.604;0.952;0.918	B;P;P	0.58266	0.261;0.836;0.735	T	0.22730	-1.0208	10	0.87932	D	0	-30.6984	17.3156	0.87222	0.0:0.0:1.0:0.0	.	293;336;320	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	N	320;336;219;293	ENSP00000336607:D320N;ENSP00000353032:D336N;ENSP00000438131:D219N;ENSP00000438329:D293N	ENSP00000336607:D320N	D	+	1	0	P2RX4	120154673	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.337000	0.72958	2.329000	0.79093	0.462000	0.41574	GAC	.	.	none		0.597	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567	
ABCA3	21	hgsc.bcm.edu	37	16	2374447	2374447	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:2374447G>A	ENST00000301732.5	-	6	1105	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ABCA3_ENST00000567910.1_Silent_p.F135F|ABCA3_ENST00000382381.3_Silent_p.F135F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	135					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.F135L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGGGTGCTCGAAGACCACGG	0.637																																					p.F135F		Atlas-SNP	.											ABCA3,NS,carcinoma,0,1	ABCA3	176	1	1	Substitution - Missense(1)	lung(1)	c.C405T						PASS	.						37.0	31.0	33.0					16																	2374447		2198	4300	6498	SO:0001819	synonymous_variant	21	exon6			GTGCTCGAAGACC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.405C>T	16.37:g.2374447G>A		20.0	0.0	0		13.0	5.0	0.384615	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																			.	.	none		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
FOXB1	27023	hgsc.bcm.edu	37	15	60297267	60297267	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:60297267G>A	ENST00000396057.4	+	2	584	c.105G>A	c.(103-105)ccG>ccA	p.P35P	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	35					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						AGATGCTGCCGCTGAGCGAGA	0.602																																					p.P35P		Atlas-SNP	.											.	FOXB1	29	.	0			c.G105A						PASS	.						98.0	96.0	97.0					15																	60297267		2203	4300	6503	SO:0001819	synonymous_variant	27023	exon2			GCTGCCGCTGAGC	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.105G>A	15.37:g.60297267G>A		35.0	0.0	0		42.0	9.0	0.214286	NM_012182	O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	CCDS32255.1																																																																																			.	.	none		0.602	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1		
VPS13D	55187	hgsc.bcm.edu	37	1	12398337	12398337	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:12398337C>T	ENST00000358136.3	+	40	8731	c.8601C>T	c.(8599-8601)aaC>aaT	p.N2867N	VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTCTGACTAACCTAGAGCACC	0.408																																					p.N2867N		Atlas-SNP	.											.	VPS13D	316	.	0			c.C8601T						PASS	.						178.0	171.0	174.0					1																	12398337		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon40			GACTAACCTAGAG	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8601C>T	1.37:g.12398337C>T		69.0	0.0	0		74.0	22.0	0.297297	NM_015378		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100178	0.20552	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.99	5.08	0.68730	.	.	.	.	.	T	0.71091	0.3299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70550	-0.4841	4	.	.	.	.	15.2099	0.73214	0.0:0.933:0.0:0.067	.	.	.	.	I	1690	.	.	T	+	2	0	VPS13D	12320924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.973000	0.49264	1.549000	0.49425	-0.136000	0.14681	ACC	.	.	none		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
SPEN	23013	hgsc.bcm.edu	37	1	16256987	16256987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:16256987C>T	ENST00000375759.3	+	11	4456	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1418					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTACGTGAGCGAGATGAAAG	0.398																																					p.R1418X		Atlas-SNP	.											.	SPEN	374	.	0			c.C4252T						PASS	.						88.0	88.0	88.0					1																	16256987		2203	4300	6503	SO:0001587	stop_gained	23013	exon11			CGTGAGCGAGATG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4252C>T	1.37:g.16256987C>T	ENSP00000364912:p.Arg1418*	79.0	0.0	0		74.0	15.0	0.202703	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	42	9.732756	0.99251	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.42	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-8.429	11.7282	0.51722	0.1906:0.8094:0.0:0.0	.	.	.	.	X	1418	.	ENSP00000364912:R1418X	R	+	1	2	SPEN	16129574	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.391000	0.34475	1.427000	0.47276	0.563000	0.77884	CGA	.	.	none		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
EPHA3	2042	hgsc.bcm.edu	37	3	89480468	89480468	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:89480468C>T	ENST00000336596.2	+	13	2530	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	EPHA3_ENST00000494014.1_Missense_Mutation_p.R769C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGGACTTTCGCGTGTCCTGGA	0.428										TSP Lung(6;0.00050)																											p.R769C		Atlas-SNP	.											EPHA3,colon,carcinoma,-1,5	EPHA3	501	5	0			c.C2305T						PASS	.						129.0	122.0	124.0					3																	89480468		2203	4300	6503	SO:0001583	missense	2042	exon13			CTTTCGCGTGTCC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2305C>T	3.37:g.89480468C>T	ENSP00000337451:p.Arg769Cys	93.0	0.0	0		94.0	23.0	0.244681	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152892	0.57259	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.85484	-1.99;-1.99	5.33	4.4	0.53042	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	0.93864	0.8037	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94943	0.8093	9	.	.	.	.	15.9138	0.79496	0.1354:0.8646:0.0:0.0	.	769	P29320	EPHA3_HUMAN	C	769	ENSP00000337451:R769C;ENSP00000419190:R769C	.	R	+	1	0	EPHA3	89563158	0.992000	0.36948	0.994000	0.49952	0.272000	0.26649	3.027000	0.49697	2.648000	0.89879	0.585000	0.79938	CGT	.	.	none		0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
KALRN	8997	hgsc.bcm.edu	37	3	124165041	124165041	+	Missense_Mutation	SNP	G	G	A	rs375081975		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:124165041G>A	ENST00000240874.3	+	20	3498	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	KALRN_ENST00000360013.3_Missense_Mutation_p.R1114H|KALRN_ENST00000460856.1_Missense_Mutation_p.R1105H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1114					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGAGAATCGCGTGCTGCAT	0.557																																					p.R1114H		Atlas-SNP	.											.	KALRN	556	.	0			c.G3341A						PASS	.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	99.0	102.0		3341,3341	5.2	0.8	3		102	0,8600		0,0,4300	no	missense,missense	KALRN	NM_001024660.3,NM_003947.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1114/2987,1114/1664	124165041	1,13005	2203	4300	6503	SO:0001583	missense	8997	exon20			AGAATCGCGTGCT	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3341G>A	3.37:g.124165041G>A	ENSP00000240874:p.Arg1114His	61.0	0.0	0		59.0	10.0	0.169492	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.325430|5.325430	0.95708|0.95708	2.27E-4|2.27E-4	0.0|0.0	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.925;0.987;0.999	T|T	0.54873|0.54873	-0.8228|-0.8228	5|10	.|0.33940	.|T	.|0.23	.|.	18.9721|18.9721	0.92719|0.92719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1105;460;1114;1114	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	T|H	1083|1105;1114;1114	.|ENSP00000418611:R1105H;ENSP00000240874:R1114H;ENSP00000353109:R1114H	.|ENSP00000240874:R1114H	A|R	+|+	1|2	0|0	KALRN|KALRN	125647731|125647731	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.945000|0.945000	0.59286|0.59286	9.611000|9.611000	0.98342|0.98342	2.721000|2.721000	0.93114|0.93114	0.561000|0.561000	0.74099|0.74099	GCG|CGC	.	.	weak		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
HIST1H1E	3008	hgsc.bcm.edu	37	6	26157108	26157108	+	Missense_Mutation	SNP	G	G	A	rs201935674	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26157108G>A	ENST00000304218.3	+	1	550	c.490G>A	c.(490-492)Gct>Act	p.A164T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	164					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A164P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCGGCTGCAGCTGCTGGAGC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		12111	0.0		0.002	False		,,,				2504	0.0				p.A164T		Atlas-SNP	.											HIST1H1E,NS,lymphoid_neoplasm,-1,3	HIST1H1E	69	3	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G490A						PASS	.						15.0	21.0	19.0					6																	26157108		2192	4287	6479	SO:0001583	missense	3008	exon1			GCTGCAGCTGCTG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.490G>A	6.37:g.26157108G>A	ENSP00000307705:p.Ala164Thr	54.0	0.0	0		63.0	18.0	0.285714	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	13.33	2.206374	0.39003	.	.	ENSG00000168298	ENST00000304218	T	0.04862	3.54	5.49	5.49	0.81192	.	0.133164	0.49916	D	0.000129	T	0.04543	0.0124	L	0.37697	1.125	0.49798	D	0.99982	P	0.48911	0.917	P	0.51297	0.665	T	0.11324	-1.0592	10	0.02654	T	1	-2.5382	18.7205	0.91691	0.0:0.0:1.0:0.0	.	164	P10412	H14_HUMAN	T	164	ENSP00000307705:A164T	ENSP00000307705:A164T	A	+	1	0	HIST1H1E	26265087	0.970000	0.33590	0.822000	0.32727	0.970000	0.65996	2.285000	0.43487	2.723000	0.93209	0.655000	0.94253	GCT	G|0.999;A|0.001	0.001	strong		0.597	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
OCA2	4948	hgsc.bcm.edu	37	15	28202854	28202854	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:28202854C>T	ENST00000354638.3	-	16	1819	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	OCA2_ENST00000353809.5_Missense_Mutation_p.R531H|OCA2_ENST00000382996.2_Missense_Mutation_p.R555H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	555					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGTCAGGCGCCAGACGTG	0.632									Oculocutaneous Albinism																												p.R555H		Atlas-SNP	.											.	OCA2	173	.	0			c.G1664A						PASS	.						26.0	27.0	27.0					15																	28202854		2202	4298	6500	SO:0001583	missense	4948	exon16	Familial Cancer Database		GTCAGGCGCCAGA		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1664G>A	15.37:g.28202854C>T	ENSP00000346659:p.Arg555His	42.0	0.0	0		43.0	16.0	0.372093	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659379	0.67586	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91577	-2.84;-2.64;-2.87	5.8	3.72	0.42706	Divalent ion symporter (1);	0.050853	0.64402	D	0.000001	D	0.91915	0.7440	L	0.46157	1.445	0.38391	D	0.945402	D;D	0.89917	0.996;1.0	P;D	0.72338	0.781;0.977	D	0.92105	0.5691	10	0.72032	D	0.01	-12.7964	8.1247	0.30992	0.0:0.7696:0.0:0.2304	.	531;555	Q04671-2;Q04671	.;P_HUMAN	H	555;531;555	ENSP00000346659:R555H;ENSP00000261276:R531H;ENSP00000372457:R555H	ENSP00000261276:R531H	R	-	2	0	OCA2	25876449	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	3.318000	0.51975	1.468000	0.48064	-0.229000	0.12294	CGC	.	.	none		0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
FAM47B	170062	hgsc.bcm.edu	37	X	34961271	34961271	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chrX:34961271C>T	ENST00000329357.5	+	1	359	c.323C>T	c.(322-324)tCg>tTg	p.S108L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	108										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCGAGCTCTCGCCAGTACAG	0.517																																					p.S108L		Atlas-SNP	.											.	FAM47B	209	.	0			c.C323T						PASS	.						89.0	82.0	84.0					X																	34961271		2202	4300	6502	SO:0001583	missense	170062	exon1			AGCTCTCGCCAGT	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.323C>T	X.37:g.34961271C>T	ENSP00000328307:p.Ser108Leu	80.0	0.0	0		89.0	37.0	0.41573	NM_152631	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	7.692	0.691313	0.15039	.	.	ENSG00000189132	ENST00000329357	T	0.19806	2.12	0.843	-0.305	0.12784	.	.	.	.	.	T	0.15912	0.0383	M	0.64997	1.995	0.09310	N	1	P	0.36535	0.557	B	0.28465	0.09	T	0.13764	-1.0497	9	0.34782	T	0.22	.	5.1951	0.15232	0.0:0.743:0.0:0.257	.	108	Q8NA70	FA47B_HUMAN	L	108	ENSP00000328307:S108L	ENSP00000328307:S108L	S	+	2	0	FAM47B	34871192	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.123000	0.15708	-0.184000	0.10567	0.292000	0.19580	TCG	.	.	none		0.517	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
BPIFA1	51297	hgsc.bcm.edu	37	20	31825915	31825915	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:31825915C>T	ENST00000354297.4	+	3	286	c.215C>T	c.(214-216)cCg>cTg	p.P72L	BPIFA1_ENST00000375422.2_Missense_Mutation_p.P72L|BPIFA1_ENST00000375413.4_Missense_Mutation_p.P72L	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	72					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GAAAACCTTCCGCTCCTGGAC	0.562																																					p.P72L		Atlas-SNP	.											PLUNC,NS,carcinoma,-1,1	.	.	1	0			c.C215T						PASS	.						66.0	65.0	65.0					20																	31825915		2203	4300	6503	SO:0001583	missense	51297	exon3			ACCTTCCGCTCCT	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.215C>T	20.37:g.31825915C>T	ENSP00000346251:p.Pro72Leu	41.0	0.0	0		48.0	14.0	0.291667	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385566	0.42308	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05717	3.4;3.4;3.4	5.43	5.43	0.79202	.	0.091687	0.48767	D	0.000170	T	0.25382	0.0617	M	0.82323	2.585	0.25290	N	0.989361	D	0.76494	0.999	D	0.65010	0.931	T	0.04708	-1.0932	10	0.51188	T	0.08	-13.9534	14.6064	0.68481	0.0:1.0:0.0:0.0	.	72	Q9NP55	BPIA1_HUMAN	L	72;72;72;58	ENSP00000364571:P72L;ENSP00000346251:P72L;ENSP00000364562:P72L	ENSP00000346251:P72L	P	+	2	0	BPIFA1	31289576	0.722000	0.28017	0.101000	0.21167	0.001000	0.01503	1.938000	0.40203	2.813000	0.96785	0.655000	0.94253	CCG	.	.	none		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
SCN5A	6331	hgsc.bcm.edu	37	3	38620946	38620946	+	Missense_Mutation	SNP	G	G	A	rs1805125	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:38620946G>A	ENST00000333535.4	-	18	3418	c.3269C>T	c.(3268-3270)cCg>cTg	p.P1090L	SCN5A_ENST00000455624.2_Missense_Mutation_p.P1089L|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1089L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1090L|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1090L|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Missense_Mutation_p.P1090L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1089L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1090			P -> L (in dbSNP:rs1805125). {ECO:0000269|PubMed:18368697}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGAATCCGGAGGGGCCTC	0.657													G|||	22	0.00439297	0.0	0.0	5008	,	,		17928	0.0198		0.001	False		,,,				2504	0.001				p.P1090L		Atlas-SNP	.											SCN5A,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	SCN5A	634	1	0			c.C3269T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,,LEU/PRO	1,4049		0,1,2024	18.0	21.0	20.0		3266,3269,3269,3266,,3269	-0.6	0.0	3	dbSNP_89	20	0,8396		0,0,4198	yes	missense,missense,missense,missense,intron,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	98,98,98,98,,98	0,1,6222	AA,AG,GG		0.0,0.0247,0.0080	,,,,,	1089/2016,1090/2017,1090/1999,1089/1984,,1090/2017	38620946	1,12445	2025	4198	6223	SO:0001583	missense	6331	exon18			GAATCCGGAGGGG	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3269C>T	3.37:g.38620946G>A	ENSP00000328968:p.Pro1090Leu	54.0	0.0	0		66.0	19.0	0.287879	NM_198056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	G	4.704	0.130956	0.08981	2.47E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624	D;D;D;D;D;D;D	0.95690	-3.68;-3.72;-3.7;-3.72;-3.68;-3.7;-3.78	4.3	-0.553	0.11815	Sodium ion transport-associated (1);	1.922100	0.02137	N	0.056824	D	0.86932	0.6052	L	0.53249	1.67	0.09310	N	1	B;B;B;B;B;B	0.21452	0.056;0.046;0.056;0.056;0.031;0.046	B;B;B;B;B;B	0.19946	0.027;0.024;0.027;0.027;0.014;0.016	T	0.74940	-0.3493	10	0.40728	T	0.16	.	0.7669	0.01016	0.1995:0.1546:0.3682:0.2777	rs1805125	1089;1090;1090;1090;1089;1090	E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	L	1090;1089;1090;1089;1090;1090;1089	ENSP00000398962:P1090L;ENSP00000398266:P1089L;ENSP00000410257:P1090L;ENSP00000397915:P1089L;ENSP00000416634:P1090L;ENSP00000328968:P1090L;ENSP00000399524:P1089L	ENSP00000328968:P1090L	P	-	2	0	SCN5A	38595950	0.020000	0.18652	0.007000	0.13788	0.179000	0.23085	-0.113000	0.10774	-0.096000	0.12329	-0.123000	0.14984	CCG	G|0.994;A|0.006	0.006	strong		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
GABRA1	2554	hgsc.bcm.edu	37	5	161317976	161317976	+	Missense_Mutation	SNP	T	T	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:161317976T>A	ENST00000428797.2	+	9	1131	c.776T>A	c.(775-777)cTg>cAg	p.L259Q	GABRA1_ENST00000444819.1_Missense_Mutation_p.L259Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.L259Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.L259Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.L259Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.L259Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	259					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAACATACCTGCCATGCATA	0.398																																					p.L259Q		Atlas-SNP	.											.	GABRA1	132	.	0			c.T776A						PASS	.						139.0	132.0	134.0					5																	161317976		2203	4300	6503	SO:0001583	missense	2554	exon9			CATACCTGCCATG		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.776T>A	5.37:g.161317976T>A	ENSP00000393097:p.Leu259Gln	88.0	0.0	0		101.0	18.0	0.178218	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341635	0.81911	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000002	D	0.92987	0.7768	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93811	0.7110	10	0.87932	D	0	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	259	P14867	GBRA1_HUMAN	Q	259	ENSP00000023897:L259Q;ENSP00000393097:L259Q;ENSP00000377517:L259Q;ENSP00000415441:L259Q;ENSP00000408041:L259Q;ENSP00000414232:L259Q	ENSP00000023897:L259Q	L	+	2	0	GABRA1	161250554	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	7.903000	0.87398	2.105000	0.64084	0.528000	0.53228	CTG	.	.	none		0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
NCKAP5	344148	hgsc.bcm.edu	37	2	133636475	133636475	+	Silent	SNP	C	C	T	rs200896980	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:133636475C>T	ENST00000409261.1	-	9	967	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NCKAP5_ENST00000409213.1_Silent_p.A198A|NCKAP5_ENST00000317721.6_Silent_p.A198A|NCKAP5_ENST00000405974.3_Silent_p.A198A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	198										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAAAGCCAACGCTGAATTCT	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19695	0.0		0.0	False		,,,				2504	0.0				p.A198A		Atlas-SNP	.											NCKAP5_ENST00000405974,colon,carcinoma,-1,2	NCKAP5	322	2	0			c.G594A						PASS	.	C	,	5,3941		0,5,1968	159.0	149.0	152.0		594,594	-11.1	0.7	2		152	0,8296		0,0,4148	no	coding-synonymous,coding-synonymous	NCKAP5	NM_207363.2,NM_207481.3	,	0,5,6116	TT,TC,CC		0.0,0.1267,0.0408	,	198/1910,198/591	133636475	5,12237	1973	4148	6121	SO:0001819	synonymous_variant	344148	exon9			AGCCAACGCTGAA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.594G>A	2.37:g.133636475C>T		86.0	0.0	0		94.0	25.0	0.265957	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																			C|1.000;T|0.000	0.000	strong		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
KCNJ3	3760	hgsc.bcm.edu	37	2	155566166	155566166	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:155566166G>A	ENST00000295101.2	+	2	1231	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	252					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACTTGAACTGGATGTAGGTTT	0.463																																					p.D252N		Atlas-SNP	.											KCNJ3,NS,carcinoma,0,2	KCNJ3	126	2	0			c.G754A						PASS	.						118.0	113.0	115.0					2																	155566166		2203	4300	6503	SO:0001583	missense	3760	exon2			GAACTGGATGTAG	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.754G>A	2.37:g.155566166G>A	ENSP00000295101:p.Asp252Asn	248.0	0.0	0		239.0	54.0	0.225941	NM_001260509	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933079	0.34096	.	.	ENSG00000162989	ENST00000295101	D	0.93604	-3.25	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.045255	0.85682	D	0.000000	D	0.83238	0.5211	N	0.01800	-0.715	0.80722	D	1	B	0.18166	0.026	B	0.26416	0.069	T	0.79322	-0.1851	10	0.07030	T	0.85	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	252	P48549	IRK3_HUMAN	N	252	ENSP00000295101:D252N	ENSP00000295101:D252N	D	+	1	0	KCNJ3	155274412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.831000	0.97527	0.650000	0.86243	GAT	.	.	none		0.463	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
DSG1	1828	hgsc.bcm.edu	37	18	28926102	28926102	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:28926102A>G	ENST00000257192.4	+	14	2253	c.2041A>G	c.(2041-2043)Atg>Gtg	p.M681V	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RNU6-167P_ENST00000384292.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M40V	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	681					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGAAATTCTATGAGGGAATG	0.418																																					p.M681V		Atlas-SNP	.											DSG1,bladder,carcinoma,-2,1	DSG1	176	1	0			c.A2041G						PASS	.						101.0	103.0	103.0					18																	28926102		2203	4300	6503	SO:0001583	missense	1828	exon14			AATTCTATGAGGG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2041A>G	18.37:g.28926102A>G	ENSP00000257192:p.Met681Val	83.0	0.0	0		71.0	12.0	0.169014	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670182	0.29693	.	.	ENSG00000134760	ENST00000257192	T	0.55760	0.5	6.06	4.9	0.64082	Cadherin, cytoplasmic domain (1);	0.061477	0.64402	D	0.000002	T	0.36303	0.0962	N	0.19112	0.55	0.32403	N	0.551713	P	0.40578	0.722	B	0.38921	0.285	T	0.47661	-0.9100	10	0.34782	T	0.22	.	10.3501	0.43929	0.9261:0.0:0.0739:0.0	.	681	Q02413	DSG1_HUMAN	V	681	ENSP00000257192:M681V	ENSP00000257192:M681V	M	+	1	0	DSG1	27180100	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.100000	0.31025	1.100000	0.41517	0.533000	0.62120	ATG	.	.	none		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
KAT6A	7994	hgsc.bcm.edu	37	8	41834600	41834600	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:41834600A>G	ENST00000396930.3	-	8	1832	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	KAT6A_ENST00000265713.2_Missense_Mutation_p.V430A|KAT6A_ENST00000406337.1_Missense_Mutation_p.V430A|KAT6A_ENST00000485568.1_Missense_Mutation_p.V430A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	430	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTAGTCCACCACTTCCCCCCG	0.458																																					p.V430A		Atlas-SNP	.											.	.	.	.	0			c.T1289C						PASS	.						121.0	116.0	118.0					8																	41834600		2203	4300	6503	SO:0001583	missense	7994	exon8			TCCACCACTTCCC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1289T>C	8.37:g.41834600A>G	ENSP00000380136:p.Val430Ala	169.0	0.0	0		221.0	64.0	0.289593	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211518	0.39102	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84730	0.11;0.11;0.11;-1.89	5.52	3.07	0.35406	.	0.274720	0.30732	N	0.008981	T	0.75177	0.3814	L	0.34521	1.04	0.37487	D	0.916244	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.66598	-0.5883	10	0.33940	T	0.23	-8.0183	8.4599	0.32921	0.7849:0.0:0.2151:0.0	.	430;430	A5PLL3;Q92794	.;KAT6A_HUMAN	A	430	ENSP00000265713:V430A;ENSP00000385888:V430A;ENSP00000380136:V430A;ENSP00000430606:V430A	ENSP00000265713:V430A	V	-	2	0	KAT6A	41953757	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.017000	0.64047	0.359000	0.24239	0.529000	0.55759	GTG	.	.	none		0.458	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KIAA1549L	25758	hgsc.bcm.edu	37	11	33667498	33667498	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:33667498G>A	ENST00000321505.4	+	16	4965	c.4785G>A	c.(4783-4785)ccG>ccA	p.P1595P	KIAA1549L_ENST00000389726.3_Silent_p.P1601P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1595						integral component of membrane (GO:0016021)											CCAGCGCTCCGGGGACCATGA	0.672																																					p.P1595P		Atlas-SNP	.											.	.	.	.	0			c.G4785A						PASS	.						17.0	20.0	19.0					11																	33667498		2000	4159	6159	SO:0001819	synonymous_variant	25758	exon16			CGCTCCGGGGACC	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4785G>A	11.37:g.33667498G>A		78.0	0.0	0		108.0	26.0	0.240741	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.	.	none		0.672	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
OR4N2	390429	hgsc.bcm.edu	37	14	20295818	20295818	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:20295818G>A	ENST00000315947.1	+	1	211	c.211G>A	c.(211-213)Gca>Aca	p.A71T	OR4N2_ENST00000568211.1_Missense_Mutation_p.A71T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCCTGGATGCATCCTACTC	0.488																																					p.A71T		Atlas-SNP	.											OR4N2,NS,carcinoma,-2,2	OR4N2	125	2	0			c.G211A						PASS	.						159.0	188.0	178.0					14																	20295818		2203	4297	6500	SO:0001583	missense	390429	exon1			CTGGATGCATCCT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.211G>A	14.37:g.20295818G>A	ENSP00000319601:p.Ala71Thr	154.0	0.0	0		163.0	39.0	0.239264	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127186	0.37533	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.03004	4.08;4.08	4.3	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000184	T	0.01695	0.0054	N	0.04768	-0.165	0.24707	N	0.993226	B	0.34264	0.446	B	0.32677	0.15	T	0.48864	-0.8997	10	0.26408	T	0.33	-9.1401	4.864	0.13598	0.1096:0.0:0.6794:0.211	.	71	Q8NGD1	OR4N2_HUMAN	T	71	ENSP00000452022:A71T;ENSP00000319601:A71T	ENSP00000319601:A71T	A	+	1	0	OR4N2	19365658	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	-0.921000	0.04008	2.374000	0.81015	0.591000	0.81541	GCA	.	.	none		0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
RPTN	126638	hgsc.bcm.edu	37	1	152128876	152128876	+	Missense_Mutation	SNP	T	T	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:152128876T>G	ENST00000316073.3	-	3	763	c.699A>C	c.(697-699)aaA>aaC	p.K233N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	233	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTGAATTGGTTTTTCACACC	0.403																																					p.K233N		Atlas-SNP	.											RPTN,colon,carcinoma,0,1	RPTN	123	1	0			c.A699C						scavenged	.						253.0	212.0	224.0					1																	152128876		1568	3582	5150	SO:0001583	missense	126638	exon3			AATTGGTTTTTCA	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.699A>C	1.37:g.152128876T>G	ENSP00000317895:p.Lys233Asn	259.0	1.0	0.003861		280.0	51.0	0.182143	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095250	0.20471	.	.	ENSG00000215853	ENST00000316073	T	0.13538	2.58	4.17	-1.53	0.08611	.	.	.	.	.	T	0.01976	0.0062	L	0.39020	1.185	0.09310	N	1	B	0.22146	0.065	B	0.14023	0.01	T	0.47142	-0.9140	9	0.18710	T	0.47	-3.9643	0.1266	0.00069	0.3014:0.1795:0.1654:0.3537	.	233	Q6XPR3	RPTN_HUMAN	N	233	ENSP00000317895:K233N	ENSP00000317895:K233N	K	-	3	2	RPTN	150395500	0.013000	0.17824	0.017000	0.16124	0.577000	0.36160	0.088000	0.14979	-0.152000	0.11156	0.363000	0.22086	AAA	.	.	none		0.403	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
PC	5091	hgsc.bcm.edu	37	11	66636367	66636367	+	Missense_Mutation	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:66636367C>G	ENST00000393958.2	-	9	1065	c.972G>C	c.(970-972)gaG>gaC	p.E324D	PC_ENST00000524491.1_Missense_Mutation_p.E284D|PC_ENST00000393955.2_Missense_Mutation_p.E324D|PC_ENST00000393960.1_Missense_Mutation_p.E324D|PC_ENST00000355677.3_Missense_Mutation_p.E324D	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	324	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGAGTTGACCTCGATGAAGT	0.667																																					p.E324D		Atlas-SNP	.											.	PC	116	.	0			c.G972C						PASS	.						85.0	76.0	79.0					11																	66636367		2200	4295	6495	SO:0001583	missense	5091	exon9			GTTGACCTCGATG	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.972G>C	11.37:g.66636367C>G	ENSP00000377530:p.Glu324Asp	123.0	0.0	0		92.0	8.0	0.0869565	NM_000920	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222436	0.79464	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33	4.65	3.74	0.42951	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.64402	D	0.000001	D	0.99771	0.9906	H	0.99498	4.595	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.97749	1.0213	10	0.87932	D	0	-29.5504	7.0636	0.25139	0.0:0.7935:0.0:0.2065	.	324	P11498	PYC_HUMAN	D	324;324;324;284;324	ENSP00000377527:E324D;ENSP00000377530:E324D;ENSP00000377532:E324D;ENSP00000434192:E284D;ENSP00000347900:E324D	ENSP00000347900:E324D	E	-	3	2	PC	66392943	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.402000	0.34600	0.949000	0.37715	0.561000	0.74099	GAG	.	.	none		0.667	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
ACAD10	80724	hgsc.bcm.edu	37	12	112182836	112182836	+	Missense_Mutation	SNP	G	G	A	rs147958599		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:112182836G>A	ENST00000313698.4	+	13	2259	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.E702K|ACAD10_ENST00000392636.2_Missense_Mutation_p.E304K|ACAD10_ENST00000455480.2_Missense_Mutation_p.E733K	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	702						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACTGATCGAAGACCTCAA	0.612																																					p.E733K		Atlas-SNP	.											.	ACAD10	93	.	0			c.G2197A						PASS	.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42.0	45.0	44.0		2197,2104	4.4	0.4	12	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	733/1091,702/1060	112182836	1,13005	2203	4300	6503	SO:0001583	missense	80724	exon14			CTGATCGAAGACC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2104G>A	12.37:g.112182836G>A	ENSP00000325137:p.Glu702Lys	26.0	0.0	0		27.0	5.0	0.185185	NM_001136538	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727387	0.69074	2.27E-4	0.0	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698	D;T;D;D	0.99704	-6.46;2.87;-6.46;-6.46	5.31	4.42	0.53409	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.294003	0.30311	N	0.009911	D	0.99566	0.9844	M	0.83312	2.635	0.45150	D	0.998164	D;D;P	0.60575	0.979;0.988;0.948	P;P;B	0.60012	0.689;0.867;0.397	D	0.97992	1.0355	10	0.62326	D	0.03	.	13.3098	0.60374	0.0786:0.0:0.9214:0.0	.	733;702;702	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	K	304;702;702;733;95;702	ENSP00000376411:E304K;ENSP00000446959:E702K;ENSP00000389813:E733K;ENSP00000325137:E702K	ENSP00000325137:E702K	E	+	1	0	ACAD10	110667219	1.000000	0.71417	0.439000	0.26833	0.268000	0.26511	3.485000	0.53208	1.378000	0.46305	0.655000	0.94253	GAA	G|1.000;A|0.000	0.000	weak		0.612	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
MSH3	4437	hgsc.bcm.edu	37	5	79950750	79950750	+	Silent	SNP	T	T	G	rs144629981|rs3045983|rs1047489	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:79950750T>G	ENST00000265081.6	+	1	284	c.204T>G	c.(202-204)gcT>gcG	p.A68A	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	68					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCCCCCAGCTCCCGCCTTCC	0.741								Mismatch excision repair (MMR)																													p.A68A	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.T204G						PASS	.						3.0	3.0	3.0					5																	79950750		1568	3264	4832	SO:0001819	synonymous_variant	4437	exon1			CCCAGCTCCCGCC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.204T>G	5.37:g.79950750T>G		0.0	0.0	.		16.0	16.0	1	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			.	.	weak		0.741	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
TAS2R16	50833	hgsc.bcm.edu	37	7	122634896	122634896	+	Missense_Mutation	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:122634896C>G	ENST00000249284.2	-	1	858	c.793G>C	c.(793-795)Gtc>Ctc	p.V265L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	265					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGCATAGACAAAAGCTTCC	0.398																																					p.V265L		Atlas-SNP	.											.	TAS2R16	57	.	0			c.G793C						PASS	.						128.0	126.0	127.0					7																	122634896		2203	4300	6503	SO:0001583	missense	50833	exon1			CATAGACAAAAGC	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.793G>C	7.37:g.122634896C>G	ENSP00000249284:p.Val265Leu	70.0	0.0	0		69.0	29.0	0.42029	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288649	0.23478	.	.	ENSG00000128519	ENST00000249284	T	0.35973	1.28	4.68	2.13	0.27403	.	0.443137	0.20257	N	0.095949	T	0.21509	0.0518	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.16305	-1.0407	10	0.28530	T	0.3	.	6.2548	0.20867	0.0:0.2053:0.0:0.7947	.	265	Q9NYV7	T2R16_HUMAN	L	265	ENSP00000249284:V265L	ENSP00000249284:V265L	V	-	1	0	TAS2R16	122422132	0.933000	0.31639	0.003000	0.11579	0.021000	0.10359	2.498000	0.45363	0.385000	0.24970	-0.423000	0.05987	GTC	.	.	none		0.398	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945	
EYA1	2138	hgsc.bcm.edu	37	8	72267114	72267114	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:72267114C>T	ENST00000340726.3	-	3	666	c.27G>A	c.(25-27)ccG>ccA	p.P9P	EYA1_ENST00000388742.4_Silent_p.P9P|EYA1_ENST00000388743.2_Silent_p.P9P|EYA1_ENST00000303824.7_Silent_p.P9P|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Silent_p.P9P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	9					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)			GACGGCTATGCGGGCTGGTTA	0.453																																					p.P9P		Atlas-SNP	.											.	EYA1	108	.	0			c.G27A						PASS	.						171.0	168.0	169.0					8																	72267114		2203	4300	6503	SO:0001819	synonymous_variant	2138	exon2			GCTATGCGGGCTG	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.27G>A	8.37:g.72267114C>T		78.0	0.0	0		90.0	23.0	0.255556	NM_172059	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																			.	.	none		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
DSG4	147409	hgsc.bcm.edu	37	18	28966774	28966774	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:28966774A>G	ENST00000308128.4	+	3	343	c.208A>G	c.(208-210)Att>Gtt	p.I70V	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.I70V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGGAACCCCATTGCCAAAGT	0.473																																					p.I70V		Atlas-SNP	.											.	DSG4	343	.	0			c.A208G						PASS	.						93.0	84.0	87.0					18																	28966774		2203	4300	6503	SO:0001583	missense	147409	exon3			AACCCCATTGCCA	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.208A>G	18.37:g.28966774A>G	ENSP00000311859:p.Ile70Val	74.0	0.0	0		64.0	15.0	0.234375	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.465033	0.63513	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.42131	0.98;0.98	5.22	5.22	0.72569	Cadherin (3);	0.000000	0.35207	N	0.003361	T	0.53417	0.1795	L	0.42487	1.325	0.39467	D	0.967666	D;D	0.67145	0.996;0.988	D;D	0.85130	0.997;0.923	T	0.48410	-0.9038	10	0.16896	T	0.51	.	13.9536	0.64133	1.0:0.0:0.0:0.0	.	70;70	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	70	ENSP00000311859:I70V;ENSP00000352785:I70V	ENSP00000311859:I70V	I	+	1	0	DSG4	27220772	1.000000	0.71417	0.912000	0.35992	0.601000	0.36947	6.122000	0.71608	2.092000	0.63282	0.528000	0.53228	ATT	.	.	none		0.473	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
ADIPOR1	51094	hgsc.bcm.edu	37	1	202915676	202915676	+	Silent	SNP	G	G	A	rs377163409		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:202915676G>A	ENST00000340990.5	-	4	619	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ADIPOR1_ENST00000436244.1_Silent_p.N107N|ADIPOR1_ENST00000367254.3_Silent_p.N107N	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	107					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCAGATAGTCGTTGTCCTTTA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21433	0.0		0.0	False		,,,				2504	0.001				p.N107N		Atlas-SNP	.											ADIPOR1,NS,carcinoma,0,1	ADIPOR1	32	1	0			c.C321T						PASS	.						224.0	170.0	188.0					1																	202915676		2203	4300	6503	SO:0001819	synonymous_variant	51094	exon4			ATAGTCGTTGTCC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.321C>T	1.37:g.202915676G>A		74.0	0.0	0		109.0	17.0	0.155963	NM_015999	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	CCDS1430.1																																																																																			.	.	none		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999	
HIST1H1C	3006	hgsc.bcm.edu	37	6	26056471	26056471	+	Silent	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26056471C>G	ENST00000343677.2	-	1	228	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	62	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACGCTTTTTTCAGAGCAGCCA	0.567																																					p.L62L		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G186C						PASS	.						81.0	90.0	87.0					6																	26056471		2203	4300	6503	SO:0001819	synonymous_variant	3006	exon1			TTTTTTCAGAGCA	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.186G>C	6.37:g.26056471C>G		120.0	0.0	0		119.0	36.0	0.302521	NM_005319	A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																			.	.	none		0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319	
NOL9	79707	hgsc.bcm.edu	37	1	6614339	6614339	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:6614339G>C	ENST00000377705.5	-	1	256	c.224C>G	c.(223-225)gCc>gGc	p.A75G	TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank|TAS1R1_ENST00000333172.6_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	75					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCTCCGGGCCGCCGCCGC	0.736																																					p.A75G		Atlas-SNP	.											.	NOL9	49	.	0			c.C224G						PASS	.						7.0	5.0	5.0					1																	6614339		1475	3019	4494	SO:0001583	missense	79707	exon1			CTCCGGGCCGCCG	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.224C>G	1.37:g.6614339G>C	ENSP00000366934:p.Ala75Gly	117.0	0.0	0		131.0	37.0	0.282443	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509501	0.27036	.	.	ENSG00000162408	ENST00000377705	T	0.18502	2.21	3.31	1.37	0.22104	.	7.427200	0.00166	N	0.000002	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.20273	-1.0280	10	0.23891	T	0.37	1.8366	3.9684	0.09443	0.1269:0.0:0.6398:0.2332	.	75	Q5SY16	NOL9_HUMAN	G	75	ENSP00000366934:A75G	ENSP00000366934:A75G	A	-	2	0	NOL9	6536926	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.197000	0.09518	0.388000	0.25054	0.407000	0.27541	GCC	.	.	none		0.736	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
ZNF135	7694	hgsc.bcm.edu	37	19	58574874	58574874	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:58574874C>T	ENST00000313434.5	+	4	322	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ZNF135_ENST00000401053.4_Missense_Mutation_p.A86V|ZNF135_ENST00000439855.2_Missense_Mutation_p.A74V|ZNF135_ENST00000359978.6_Missense_Mutation_p.A86V|ZNF135_ENST00000506786.1_Missense_Mutation_p.A32V|ZNF135_ENST00000511556.1_Missense_Mutation_p.A74V	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAGCTGTGGGCGGTGGAGTCT	0.572																																					p.A86V		Atlas-SNP	.											.	ZNF135	159	.	0			c.C257T						PASS	.						112.0	98.0	103.0					19																	58574874		2203	4300	6503	SO:0001583	missense	7694	exon3			TGTGGGCGGTGGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.221C>T	19.37:g.58574874C>T	ENSP00000321406:p.Ala74Val	71.0	0.0	0		73.0	13.0	0.178082	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.024|0.024	-1.388368|-1.388368	0.01185|0.01185	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76;1.76|.	2.51|2.51	-0.893|-0.893	0.10567|0.10567	Krueppel-associated box (2);|.	.|.	.|.	.|.	.|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.00894|0.00894	-1.105|-1.105	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.001;0.001;0.004|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.36866|0.36866	-0.9730|-0.9730	9|5	0.20519|.	T|.	0.43|.	.|.	5.1902|5.1902	0.15205|0.15205	0.0:0.5554:0.0:0.4446|0.0:0.5554:0.0:0.4446	.|.	74;74;86|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	V|W	86;86;86;74;74;74;32|80	ENSP00000441410:A86V;ENSP00000369437:A86V;ENSP00000444828:A74V;ENSP00000321406:A74V;ENSP00000422074:A74V;ENSP00000427691:A32V|.	ENSP00000321406:A74V|.	A|R	+|+	2|1	0|2	ZNF135|ZNF135	63266686|63266686	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.546000|-1.546000	0.02188|0.02188	-0.094000|-0.094000	0.12374|0.12374	-0.251000|-0.251000	0.11542|0.11542	GCG|CGG	.	.	none		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
DIXDC1	85458	hgsc.bcm.edu	37	11	111851576	111851576	+	Splice_Site	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:111851576T>C	ENST00000389821.4	+	6	1066		c.e6+2		DIXDC1_ENST00000440460.2_Splice_Site|DIXDC1_ENST00000315253.5_Splice_Site			Q155Q3	DIXC1_HUMAN	DIX domain containing 1						camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAGAACAGGTACTATCTCTA	0.483																																					.		Atlas-SNP	.											.	DIXDC1	50	.	0			c.769+2T>C						PASS	.						85.0	80.0	81.0					11																	111851576		1923	4122	6045	SO:0001630	splice_region_variant	85458	exon6			AACAGGTACTATC	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.1066+2T>C	11.37:g.111851576T>C		51.0	0.0	0		64.0	13.0	0.203125	NM_001037954	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Splice_Site	SNP	ENST00000389821.4	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.123010	0.77436	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1587	0.72764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIXDC1	111356786	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.091000	0.64505	2.182000	0.69389	0.533000	0.62120	.	.	.	none		0.483	DIXDC1-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000391833.1	NM_001037954	Intron
MCL1	4170	hgsc.bcm.edu	37	1	150551347	150551347	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:150551347C>T	ENST00000369026.2	-	1	719	c.660G>A	c.(658-660)gtG>gtA	p.V220V	MCL1_ENST00000307940.3_Silent_p.V220V|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	220					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGTTGCGCTGCACGCCATCCC	0.632																																					p.V220V		Atlas-SNP	.											MCL1,NS,carcinoma,0,1	MCL1	27	1	0			c.G660A						PASS	.						59.0	65.0	63.0					1																	150551347		2203	4300	6503	SO:0001819	synonymous_variant	4170	exon1			GCGCTGCACGCCA	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.660G>A	1.37:g.150551347C>T		52.0	0.0	0		63.0	15.0	0.238095	NM_182763	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	CCDS957.1																																																																																			.	.	none		0.632	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960	
SLC17A6	57084	hgsc.bcm.edu	37	11	22364888	22364888	+	Silent	SNP	C	C	T	rs557561735		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:22364888C>T	ENST00000263160.3	+	3	872	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	145					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGCTACATCGCGTCTCGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15895	0.0		0.0	False		,,,				2504	0.0				p.I145I		Atlas-SNP	.											.	SLC17A6	135	.	0			c.C435T						PASS	.						64.0	67.0	66.0					11																	22364888		2203	4300	6503	SO:0001819	synonymous_variant	57084	exon3			CTACATCGCGTCT	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.435C>T	11.37:g.22364888C>T		22.0	0.0	0		27.0	8.0	0.296296	NM_020346	A6NKS2	Silent	SNP	ENST00000263160.3	37	CCDS7856.1																																																																																			.	.	none		0.587	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
MUC17	140453	hgsc.bcm.edu	37	7	100682814	100682814	+	Missense_Mutation	SNP	A	A	G	rs201007776		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:100682814A>G	ENST00000306151.4	+	3	8181	c.8117A>G	c.(8116-8118)aAt>aGt	p.N2706S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2706	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGGCCAATTCTGAGGCT	0.493																																					p.N2706S		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	0			c.A8117G						scavenged	.						245.0	255.0	251.0					7																	100682814		2203	4300	6503	SO:0001583	missense	140453	exon3			TGGCCAATTCTGA	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8117A>G	7.37:g.100682814A>G	ENSP00000302716:p.Asn2706Ser	55.0	2.0	0.0363636		76.0	5.0	0.0657895	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274581	0.01410	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.37	-0.741	0.11112	.	.	.	.	.	T	0.00754	0.0025	N	0.02539	-0.55	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43065	-0.9414	9	0.06236	T	0.91	.	0.1449	0.00087	0.2508:0.246:0.2581:0.2451	.	2706	Q685J3	MUC17_HUMAN	S	2706	ENSP00000302716:N2706S	ENSP00000302716:N2706S	N	+	2	0	MUC17	100469534	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.783000	0.04638	-2.048000	0.00907	-1.389000	0.01157	AAT	A|0.999;G|0.001	0.001	weak		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
C1orf64	149563	hgsc.bcm.edu	37	1	16332643	16332643	+	Silent	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:16332643C>G	ENST00000329454.2	+	2	380	c.312C>G	c.(310-312)gcC>gcG	p.A104A	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	104										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCTTGCCCAGGCCAGGG	0.647																																					p.A104A		Atlas-SNP	.											.	C1orf64	16	.	0			c.C312G						PASS	.						50.0	51.0	51.0					1																	16332643		2203	4300	6503	SO:0001819	synonymous_variant	149563	exon2			CCTTGCCCAGGCC	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.312C>G	1.37:g.16332643C>G		73.0	0.0	0		94.0	16.0	0.170213	NM_178840	B3KXI9	Silent	SNP	ENST00000329454.2	37	CCDS166.1																																																																																			.	.	none		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840	
DST	667	hgsc.bcm.edu	37	6	56483209	56483209	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:56483209C>T	ENST00000370765.6	-	23	5730	c.5623G>A	c.(5623-5625)Gac>Aac	p.D1875N	DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGGTACAGTCTTTGGCTGTG	0.438																																					p.D1875N		Atlas-SNP	.											.	DST	1427	.	0			c.G5623A						PASS	.						71.0	72.0	71.0					6																	56483209		2203	4300	6503	SO:0001583	missense	667	exon23			TACAGTCTTTGGC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5623G>A	6.37:g.56483209C>T	ENSP00000359801:p.Asp1875Asn	134.0	0.0	0		155.0	35.0	0.225806	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147806	0.37923	.	.	ENSG00000151914	ENST00000370765	T	0.34667	1.35	4.87	3.09	0.35607	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.22835	N	0.998678	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	7	0.52906	T	0.07	.	7.8725	0.29573	0.0:0.7476:0.0:0.2524	.	1875	Q03001-3	.	N	1875	ENSP00000359801:D1875N	ENSP00000359801:D1875N	D	-	1	0	DST	56591168	0.918000	0.31147	0.006000	0.13384	0.844000	0.47949	0.808000	0.27154	0.583000	0.29574	0.650000	0.86243	GAC	.	.	none		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
ZFAT	57623	hgsc.bcm.edu	37	8	135612768	135612768	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:135612768T>C	ENST00000377838.3	-	7	2560	c.2386A>G	c.(2386-2388)Atc>Gtc	p.I796V	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.I734V|ZFAT_ENST00000520356.1_Missense_Mutation_p.I784V|ZFAT_ENST00000520214.1_Missense_Mutation_p.I784V|ZFAT_ENST00000429442.2_Missense_Mutation_p.I784V|ZFAT_ENST00000520727.1_Missense_Mutation_p.I784V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	796					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCAGCAAGATGTTACTGTGT	0.433																																					p.I796V		Atlas-SNP	.											.	ZFAT	265	.	0			c.A2386G						PASS	.						177.0	174.0	175.0					8																	135612768		1978	4157	6135	SO:0001583	missense	57623	exon7			GCAAGATGTTACT	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2386A>G	8.37:g.135612768T>C	ENSP00000367069:p.Ile796Val	139.0	0.0	0		159.0	33.0	0.207547	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675100	0.47781	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.61	1.97	0.26223	.	0.297381	0.35805	N	0.002965	T	0.04137	0.0115	N	0.03917	-0.325	0.29344	N	0.865847	P;B;B;B	0.36412	0.552;0.192;0.009;0.001	B;B;B;B	0.27076	0.064;0.076;0.013;0.003	T	0.24154	-1.0168	10	0.66056	D	0.02	-19.3815	4.2442	0.10663	0.1385:0.2253:0.0:0.6362	.	734;784;784;796	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	784;784;784;796;784;683;734;784	ENSP00000427879:I784V;ENSP00000427831:I784V;ENSP00000394501:I784V;ENSP00000367069:I796V;ENSP00000428483:I784V;ENSP00000429091:I734V	ENSP00000326997:I683V	I	-	1	0	ZFAT	135681950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.914000	0.28624	0.502000	0.28037	0.533000	0.62120	ATC	.	.	none		0.433	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
GMPR2	51292	hgsc.bcm.edu	37	14	24702483	24702483	+	Silent	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:24702483G>T	ENST00000355299.4	+	2	485	c.24G>T	c.(22-24)gtG>gtT	p.V8V	GMPR2_ENST00000456667.3_Silent_p.V8V|NEDD8-MDP1_ENST00000534348.1_5'Flank|GMPR2_ENST00000420554.2_Silent_p.V26V|NEDD8-MDP1_ENST00000604306.1_5'Flank|NEDD8_ENST00000250495.5_5'Flank|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000348719.7_Silent_p.V8V|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000559104.1_Silent_p.V26V|GMPR2_ENST00000399440.2_Silent_p.V8V|GMPR2_ENST00000559910.1_Silent_p.V8V|GMPR2_ENST00000557854.1_Silent_p.V26V|GMPR2_ENST00000559836.1_Silent_p.V8V	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	8					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACAACGATGTGAAACTGGACT	0.512																																					p.V26V		Atlas-SNP	.											.	GMPR2	37	.	0			c.G78T						PASS	.						296.0	285.0	288.0					14																	24702483		2026	4179	6205	SO:0001819	synonymous_variant	51292	exon1			CGATGTGAAACTG		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.24G>T	14.37:g.24702483G>T		53.0	0.0	0		57.0	19.0	0.333333	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	CCDS41935.1																																																																																			.	.	none		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
FMN2	56776	hgsc.bcm.edu	37	1	240371409	240371409	+	Silent	SNP	G	G	T	rs373533409	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:240371409G>T	ENST00000319653.9	+	5	3527	c.3297G>T	c.(3295-3297)ccG>ccT	p.P1099P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTAC	0.731																																					p.P1099P		Atlas-SNP	.											FMN2,NS,neuroblastoma,0,1	FMN2	451	1	0			c.G3297T						scavenged	.						6.0	8.0	8.0					1																	240371409		2016	4072	6088	SO:0001819	synonymous_variant	56776	exon5			CCCTCCGCCCCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3297G>T	1.37:g.240371409G>T		23.0	2.0	0.0869565		49.0	4.0	0.0816327	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.	.	none		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ZNF841	284371	hgsc.bcm.edu	37	19	52569180	52569180	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:52569180G>A	ENST00000426391.2	-	5	2158	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	ZNF841_ENST00000594295.1_Missense_Mutation_p.P652L|ZNF841_ENST00000389534.4_Missense_Mutation_p.P652L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACATTTATAAGGTTTCTCTCC	0.428																																					p.P652L		Atlas-SNP	.											.	ZNF841	183	.	0			c.C1955T						PASS	.						100.0	94.0	96.0					19																	52569180		692	1591	2283	SO:0001583	missense	284371	exon7			TTATAAGGTTTCT	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1607C>T	19.37:g.52569180G>A	ENSP00000415453:p.Pro536Leu	123.0	0.0	0		142.0	35.0	0.246479	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	G	18.27	3.587926	0.66105	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.17054	2.3;2.3	1.88	0.814	0.18756	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36248	0.0960	M	0.74546	2.27	0.31539	N	0.660191	D;P	0.89917	1.0;0.908	D;B	0.87578	0.998;0.368	T	0.36817	-0.9732	9	0.54805	T	0.06	.	7.6369	0.28272	0.1609:0.0:0.8391:0.0	.	652;536	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	L	652;536	ENSP00000374185:P652L;ENSP00000415453:P536L	ENSP00000374185:P652L	P	-	2	0	ZNF841	57260992	0.000000	0.05858	0.004000	0.12327	0.887000	0.51463	-0.138000	0.10374	1.025000	0.39708	0.313000	0.20887	CCT	.	.	none		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155	
SALL3	27164	hgsc.bcm.edu	37	18	76756928	76756928	+	Missense_Mutation	SNP	C	C	T	rs533436270		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:76756928C>T	ENST00000537592.2	+	3	3509	c.3509C>T	c.(3508-3510)gCg>gTg	p.A1170V	SALL3_ENST00000536229.3_Missense_Mutation_p.A965V|SALL3_ENST00000575389.2_Missense_Mutation_p.A1098V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1170					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AACGCCCCCGCGAGACGCGGC	0.627																																					p.A1170V		Atlas-SNP	.											SALL3,colon,carcinoma,0,1	SALL3	162	1	0			c.C3509T						scavenged	.						21.0	24.0	23.0					18																	76756928		2203	4300	6503	SO:0001583	missense	27164	exon3			CCCCCGCGAGACG	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3509C>T	18.37:g.76756928C>T	ENSP00000441823:p.Ala1170Val	47.0	0.0	0		53.0	9.0	0.169811	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165258	0.38217	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10573	2.86	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000028	T	0.40570	0.1122	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.962	T	0.49351	-0.8949	10	0.72032	D	0.01	-43.6667	18.2244	0.89913	0.0:1.0:0.0:0.0	.	830;1170	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	1170;1098;830	ENSP00000441823:A1170V	ENSP00000299466:A1170V	A	+	2	0	SALL3	74857916	1.000000	0.71417	0.370000	0.25965	0.778000	0.44026	5.940000	0.70187	2.351000	0.79841	0.561000	0.74099	GCG	.	.	none		0.627	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
MUC16	94025	hgsc.bcm.edu	37	19	9062349	9062349	+	Missense_Mutation	SNP	T	T	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:9062349T>A	ENST00000397910.4	-	3	25300	c.25097A>T	c.(25096-25098)cAa>cTa	p.Q8366L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8368	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGAAGATTGTGATTCATG	0.488																																					p.Q8366L		Atlas-SNP	.											.	MUC16	4315	.	0			c.A25097T						PASS	.						192.0	187.0	189.0					19																	9062349		2104	4217	6321	SO:0001583	missense	94025	exon3			GAAGATTGTGATT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25097A>T	19.37:g.9062349T>A	ENSP00000381008:p.Gln8366Leu	123.0	0.0	0		111.0	24.0	0.216216	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.473	-0.321332	0.05386	.	.	ENSG00000181143	ENST00000397910	T	0.24538	1.85	1.67	-3.34	0.04943	.	.	.	.	.	T	0.17959	0.0431	L	0.43152	1.355	.	.	.	B	0.21071	0.051	B	0.13407	0.009	T	0.12372	-1.0550	8	0.87932	D	0	.	5.1877	0.15193	0.1893:0.0:0.5705:0.2401	.	8366	B5ME49	.	L	8366	ENSP00000381008:Q8366L	ENSP00000381008:Q8366L	Q	-	2	0	MUC16	8923349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.791000	0.01758	-1.768000	0.01298	-0.842000	0.03052	CAA	.	.	none		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FSCB	84075	hgsc.bcm.edu	37	14	44973798	44973798	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:44973798G>A	ENST00000340446.4	-	1	2684	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	798						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTGGTATTAGACAAATCTTT	0.368																																					p.S798F		Atlas-SNP	.											FSCB,NS,carcinoma,0,1	FSCB	173	1	0			c.C2393T						PASS	.						72.0	77.0	76.0					14																	44973798		2202	4300	6502	SO:0001583	missense	84075	exon1			GTATTAGACAAAT	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2393C>T	14.37:g.44973798G>A	ENSP00000344579:p.Ser798Phe	148.0	0.0	0		122.0	27.0	0.221311	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335252	0.41398	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17691	2.26	3.72	2.82	0.32997	.	.	.	.	.	T	0.27349	0.0671	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.05750	-1.0866	9	0.87932	D	0	-0.5539	5.8233	0.18540	0.2368:0.0:0.7632:0.0	.	798	Q5H9T9	FSCB_HUMAN	F	798;691	ENSP00000344579:S798F	ENSP00000344579:S798F	S	-	2	0	FSCB	44043548	0.011000	0.17503	0.003000	0.11579	0.091000	0.18340	1.756000	0.38390	1.136000	0.42199	0.484000	0.47621	TCT	.	.	none		0.368	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
LPHN2	23266	hgsc.bcm.edu	37	1	82409302	82409302	+	Missense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:82409302C>A	ENST00000370728.1	+	8	1692	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	LPHN2_ENST00000335786.5_Missense_Mutation_p.N349K|LPHN2_ENST00000370715.1_Missense_Mutation_p.N349K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.N349K|LPHN2_ENST00000359929.3_Missense_Mutation_p.N349K|LPHN2_ENST00000370725.1_Missense_Mutation_p.N349K|LPHN2_ENST00000370717.2_Missense_Mutation_p.N349K|LPHN2_ENST00000370723.1_Missense_Mutation_p.N349K|LPHN2_ENST00000370730.1_Missense_Mutation_p.N349K|LPHN2_ENST00000394879.1_Missense_Mutation_p.N349K|LPHN2_ENST00000319517.6_Missense_Mutation_p.N349K|LPHN2_ENST00000370721.1_Missense_Mutation_p.N353K|LPHN2_ENST00000370727.1_Missense_Mutation_p.N349K|LPHN2_ENST00000271029.4_Missense_Mutation_p.N349K			O95490	LPHN2_HUMAN	latrophilin 2	349	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCCGATTAAACCGAGGAGAAT	0.383																																					p.N349K		Atlas-SNP	.											.	LPHN2	464	.	0			c.C1047A						PASS	.						155.0	154.0	154.0					1																	82409302		2203	4299	6502	SO:0001583	missense	23266	exon5			ATTAAACCGAGGA	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1047C>A	1.37:g.82409302C>A	ENSP00000359763:p.Asn349Lys	87.0	0.0	0		120.0	33.0	0.275	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.791|9.791	1.177918|1.177918	0.21787|0.21787	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41|.	5.54|5.54	4.62|4.62	0.57501|0.57501	.|.	0.160030|.	0.53938|.	D|.	0.000042|.	T|T	0.45337|0.45337	0.1337|0.1337	L|L	0.56396|0.56396	1.775|1.775	0.36629|0.36629	D|D	0.876203|0.876203	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.08055|.	0.003;0.002;0.001|.	T|T	0.50276|0.50276	-0.8847|-0.8847	10|5	0.62326|.	D|.	0.03|.	.|.	6.8169|6.8169	0.23835|0.23835	0.1426:0.7106:0.0:0.1468|0.1426:0.7106:0.0:0.1468	.|.	349;349;349|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	K|N	353;349;349;349;349;349;349;349;349;349;349;349;349;349|217	ENSP00000359756:N353K;ENSP00000359763:N349K;ENSP00000359765:N349K;ENSP00000359762:N349K;ENSP00000359760:N349K;ENSP00000359758:N349K;ENSP00000353006:N349K;ENSP00000359750:N349K;ENSP00000359748:N349K;ENSP00000322270:N349K;ENSP00000359752:N349K;ENSP00000378344:N349K;ENSP00000271029:N349K;ENSP00000337306:N349K|.	ENSP00000271029:N349K|.	N|T	+|+	3|2	2|0	LPHN2|LPHN2	82181890|82181890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	1.052000|1.052000	0.30429|0.30429	1.302000|1.302000	0.44855|0.44855	0.557000|0.557000	0.71058|0.71058	AAC|ACC	.	.	none		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
RGS12	6002	hgsc.bcm.edu	37	4	3418713	3418713	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:3418713C>T	ENST00000344733.5	+	8	3405	c.2501C>T	c.(2500-2502)gCg>gTg	p.A834V	RGS12_ENST00000382788.3_Missense_Mutation_p.A834V|RGS12_ENST00000338806.4_Missense_Mutation_p.A186V|RGS12_ENST00000538395.1_Missense_Mutation_p.A176V|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.A834V|RGS12_ENST00000306648.7_Missense_Mutation_p.A232V|RGS12_ENST00000543385.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	834					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582																																					p.A834V		Atlas-SNP	.											RGS12,NS,carcinoma,-1,2	RGS12	128	2	0			c.C2501T						PASS	.						63.0	68.0	66.0					4																	3418713		2203	4300	6503	SO:0001583	missense	6002	exon8			TCCTGGCGGAAGT	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2501C>T	4.37:g.3418713C>T	ENSP00000339381:p.Ala834Val	103.0	0.0	0		113.0	32.0	0.283186	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595185	0.86953	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37	4.54	4.54	0.55810	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.999;0.999;0.999;0.987;0.997	P;P;D;P;D;D;D;P;P	0.65773	0.9;0.844;0.936;0.844;0.938;0.938;0.93;0.712;0.902	T	0.00802	-1.1560	10	0.66056	D	0.02	-27.9321	16.6416	0.85128	0.0:1.0:0.0:0.0	.	176;33;176;33;176;186;232;834;834	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	V	834;834;834;232;186;176	ENSP00000339381:A834V;ENSP00000338509:A834V;ENSP00000372238:A834V;ENSP00000304459:A232V;ENSP00000342133:A186V;ENSP00000438888:A176V	ENSP00000304459:A232V	A	+	2	0	RGS12	3388511	1.000000	0.71417	0.923000	0.36655	0.346000	0.29079	7.443000	0.80521	2.247000	0.74100	0.609000	0.83330	GCG	.	.	none		0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
MYH2	4620	hgsc.bcm.edu	37	17	10428151	10428151	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:10428151C>T	ENST00000245503.5	-	34	5278	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1632K|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1632					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATTTCCATTTCATTG	0.507																																					p.E1632K		Atlas-SNP	.											.	MYH2	390	.	0			c.G4894A						PASS	.						206.0	179.0	188.0					17																	10428151		2203	4297	6500	SO:0001583	missense	4620	exon34			GGATTTCCATTTC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4894G>A	17.37:g.10428151C>T	ENSP00000245503:p.Glu1632Lys	271.0	0.0	0		267.0	73.0	0.273408	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331921	0.95733	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84146	-1.81;-1.81	5.44	5.44	0.79542	Myosin tail (1);	0.000000	0.39834	U	0.001251	D	0.95570	0.8560	H	0.98238	4.18	0.80722	D	1	D	0.55172	0.97	D	0.66847	0.947	D	0.96775	0.9571	10	0.87932	D	0	.	19.4557	0.94886	0.0:1.0:0.0:0.0	.	1632	Q9UKX2	MYH2_HUMAN	K	1632	ENSP00000245503:E1632K;ENSP00000380367:E1632K	ENSP00000245503:E1632K	E	-	1	0	MYH2	10368876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.823000	0.97156	0.591000	0.81541	GAA	.	.	none		0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
ZNF208	7757	hgsc.bcm.edu	37	19	22157288	22157288	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:22157288C>T	ENST00000397126.4	-	4	696	c.548G>A	c.(547-549)tGc>tAc	p.C183Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAAGCATGCAAAATGATCT	0.333																																					p.C183Y		Atlas-SNP	.											.	ZNF208	817	.	0			c.G548A						PASS	.						86.0	84.0	85.0					19																	22157288		2038	4222	6260	SO:0001583	missense	7757	exon4			AGCATGCAAAATG	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.548G>A	19.37:g.22157288C>T	ENSP00000380315:p.Cys183Tyr	135.0	0.0	0		94.0	28.0	0.297872	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.664133	0.00107	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14516	2.5	1.62	0.204	0.15199	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13628	0.0330	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.61070	0.883	T	0.13899	-1.0492	8	0.06494	T	0.89	.	6.1001	0.20043	0.0:0.4968:0.5032:0.0	.	183	O43345	ZN208_HUMAN	Y	183	ENSP00000380315:C183Y	ENSP00000380315:C183Y	C	-	2	0	ZNF208	21949128	0.000000	0.05858	0.005000	0.12908	0.755000	0.42902	-0.498000	0.06420	0.904000	0.36572	0.298000	0.19748	TGC	.	.	none		0.333	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
PCDHA11	56138	hgsc.bcm.edu	37	5	140251070	140251070	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140251070C>T	ENST00000398640.2	+	1	2382	c.2382C>T	c.(2380-2382)caC>caT	p.H794H	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	794	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCAAATCACCCCGGACAGG	0.453																																					p.H794H		Atlas-SNP	.											.	PCDHA11	209	.	0			c.C2382T						PASS	.						14.0	17.0	16.0					5																	140251070		2169	4291	6460	SO:0001819	synonymous_variant	56138	exon1			AAATCACCCCGGA	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2382C>T	5.37:g.140251070C>T		221.0	0.0	0		247.0	62.0	0.251012	NM_018902	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																			.	.	none		0.453	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
RGS8	85397	hgsc.bcm.edu	37	1	182638779	182638779	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:182638779C>T	ENST00000483095.2	-	3	263	c.6G>A	c.(4-6)gcG>gcA	p.A2A	RGS8_ENST00000367557.4_Silent_p.A2A|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Silent_p.A2A|RGS8_ENST00000258302.4_Intron			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	2					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TCAGTAAGGCCGCCATACAGG	0.517																																					p.A2A	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											.	RGS8	51	.	0			c.G6A						PASS	.						134.0	143.0	140.0					1																	182638779		1971	4154	6125	SO:0001819	synonymous_variant	85397	exon3			TAAGGCCGCCATA	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.6G>A	1.37:g.182638779C>T		85.0	0.0	0		103.0	22.0	0.213592	NM_001102450	B4DGL9|Q3SYD2	Silent	SNP	ENST00000483095.2	37	CCDS41443.1																																																																																			.	.	none		0.517	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345	
LNX1	84708	hgsc.bcm.edu	37	4	54362377	54362377	+	Missense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:54362377C>A	ENST00000263925.7	-	6	1477	c.1163G>T	c.(1162-1164)aGc>aTc	p.S388I	LNX1_ENST00000306888.2_Missense_Mutation_p.S292I|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	388	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCTCGGGGCTACTTTTGTT	0.527																																					p.S388I		Atlas-SNP	.											.	LNX1	139	.	0			c.G1163T						PASS	.						102.0	99.0	100.0					4																	54362377		2203	4300	6503	SO:0001583	missense	84708	exon6			TCGGGGCTACTTT	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1163G>T	4.37:g.54362377C>A	ENSP00000263925:p.Ser388Ile	84.0	0.0	0		89.0	24.0	0.269663	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049759	0.36181	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.32272	1.46;1.46	5.29	3.51	0.40186	PDZ/DHR/GLGF (3);	0.321656	0.41712	D	0.000835	T	0.46776	0.1410	M	0.76170	2.325	0.46774	D	0.999198	D;P	0.53745	0.962;0.696	P;B	0.53146	0.719;0.355	T	0.48445	-0.9035	10	0.38643	T	0.18	.	15.5056	0.75739	0.0:0.7374:0.2626:0.0	.	388;292	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	I	292;226;388	ENSP00000302879:S292I;ENSP00000263925:S388I	ENSP00000263925:S388I	S	-	2	0	LNX1	54057134	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	0.964000	0.29306	0.759000	0.33084	0.561000	0.74099	AGC	.	.	none		0.527	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
PCDHA2	56146	hgsc.bcm.edu	37	5	140175767	140175767	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140175767G>A	ENST00000526136.1	+	1	1218	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S	PCDHA2_ENST00000520672.2_Silent_p.S406S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S406S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.622																																					p.S406S		Atlas-SNP	.											.	PCDHA2	404	.	0			c.G1218A						PASS	.						157.0	139.0	145.0					5																	140175767		2203	4300	6503	SO:0001819	synonymous_variant	56146	exon1			CTACTCGTTGGTG	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1218G>A	5.37:g.140175767G>A		79.0	0.0	0		81.0	20.0	0.246914	NM_031495	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																			.	.	none		0.622	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
MTA2	9219	hgsc.bcm.edu	37	11	62368098	62368098	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:62368098T>C	ENST00000278823.2	-	2	481	c.92A>G	c.(91-93)aAc>aGc	p.N31S	MTA2_ENST00000524902.1_5'Flank|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	31	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTCACCTTGTTGAGCTCCTC	0.498																																					p.N31S		Atlas-SNP	.											MTA2,NS,carcinoma,0,1	MTA2	54	1	0			c.A92G						PASS	.						81.0	70.0	74.0					11																	62368098		2202	4299	6501	SO:0001583	missense	9219	exon2			ACCTTGTTGAGCT	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.92A>G	11.37:g.62368098T>C	ENSP00000278823:p.Asn31Ser	65.0	0.0	0		72.0	14.0	0.194444	NM_004739	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	T	32	5.182718	0.94885	.	.	ENSG00000149480	ENST00000278823	D	0.85411	-1.98	4.85	4.85	0.62838	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.71296	2.17	0.80722	D	1	P	0.51057	0.941	D	0.71414	0.973	D	0.91635	0.5322	10	0.72032	D	0.01	-8.0007	12.3694	0.55246	0.0:0.0:0.0:1.0	.	31	O94776	MTA2_HUMAN	S	31	ENSP00000278823:N31S	ENSP00000278823:N31S	N	-	2	0	MTA2	62124674	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.192000	0.77771	1.806000	0.52798	0.460000	0.39030	AAC	.	.	none		0.498	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
ST8SIA6	338596	hgsc.bcm.edu	37	10	17363320	17363320	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:17363320C>T	ENST00000377602.4	-	8	828	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	252					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAAATAGGGCTTTTTTTTCC	0.348																																					p.A252T		Atlas-SNP	.											.	ST8SIA6	85	.	0			c.G754A						PASS	.						37.0	41.0	40.0					10																	17363320		2195	4298	6493	SO:0001583	missense	338596	exon8			ATAGGGCTTTTTT		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.754G>A	10.37:g.17363320C>T	ENSP00000366827:p.Ala252Thr	63.0	0.0	0		70.0	17.0	0.242857	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.129|0.129	-1.116296|-1.116296	0.01799|0.01799	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.29142|.	1.58|.	5.18|5.18	2.08|2.08	0.27032|0.27032	.|.	0.599365|.	0.19535|.	N|.	0.111928|.	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.25094|0.25094	0.71|0.71	0.09310|0.09310	N|N	1|1	B|.	0.18461|.	0.028|.	B|.	0.19666|.	0.026|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.19590|.	T|.	0.45|.	-9.7736|-9.7736	4.24|4.24	0.10643|0.10643	0.2922:0.4836:0.0:0.2242|0.2922:0.4836:0.0:0.2242	.|.	252|.	P61647|.	SIA8F_HUMAN|.	T|N	82;252|72	ENSP00000366827:A252T|.	ENSP00000366827:A252T|.	A|S	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403326|17403326	0.002000|0.002000	0.14202|0.14202	0.014000|0.014000	0.15608|0.15608	0.041000|0.041000	0.13682|0.13682	-0.286000|-0.286000	0.08399|0.08399	0.850000|0.850000	0.35239|0.35239	-0.142000|-0.142000	0.14014|0.14014	GCC|AGC	.	.	none		0.348	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
FGD4	121512	hgsc.bcm.edu	37	12	32734984	32734984	+	Silent	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:32734984A>G	ENST00000427716.2	+	4	607	c.183A>G	c.(181-183)acA>acG	p.T61T	FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000531134.1_Silent_p.T146T|FGD4_ENST00000534526.2_Silent_p.T198T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Silent_p.T61T|FGD4_ENST00000525053.1_Silent_p.T173T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	61	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACAACCACACCTCAACAAA	0.448																																					p.T61T		Atlas-SNP	.											.	FGD4	86	.	0			c.A183G						PASS	.						117.0	117.0	117.0					12																	32734984		2203	4300	6503	SO:0001819	synonymous_variant	121512	exon4			AACCACACCTCAA	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.183A>G	12.37:g.32734984A>G		113.0	0.0	0		114.0	28.0	0.245614	NM_139241	Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	CCDS8727.1																																																																																			.	.	none		0.448	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
STAT3	6774	hgsc.bcm.edu	37	17	40475068	40475068	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:40475068G>C	ENST00000264657.5	-	20	2154	c.1842C>G	c.(1840-1842)agC>agG	p.S614R	STAT3_ENST00000404395.3_Missense_Mutation_p.S614R|STAT3_ENST00000588969.1_Missense_Mutation_p.S614R|STAT3_ENST00000389272.3_Missense_Mutation_p.S516R|STAT3_ENST00000585517.1_Missense_Mutation_p.S614R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	614	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S614R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCCTTCTTTGCTGCTTTCAC	0.572									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S614R		Atlas-SNP	.											STAT3,lymph_node,lymphoid_neoplasm,0,4	STAT3	268	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1842G						PASS	.						134.0	125.0	128.0					17																	40475068		2203	4300	6503	SO:0001583	missense	6774	exon20	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	TTCTTTGCTGCTT	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1842C>G	17.37:g.40475068G>C	ENSP00000264657:p.Ser614Arg	74.0	0.0	0	893	70.0	19.0	0.271429	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393161	0.83011	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96522	-4.04;-4.04;-4.04	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	D	0.97931	1.0320	10	0.87932	D	0	-10.2909	19.12	0.93358	0.0:0.0:1.0:0.0	.	614;614;614	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	R	614;516;614	ENSP00000264657:S614R;ENSP00000373923:S516R;ENSP00000384943:S614R	ENSP00000264657:S614R	S	-	3	2	STAT3	37728594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.477000	0.66799	2.752000	0.94435	0.655000	0.94253	AGC	.	.	none		0.572	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	
VWDE	221806	hgsc.bcm.edu	37	7	12381703	12381703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:12381703C>A	ENST00000275358.3	-	23	4440	c.4252G>T	c.(4252-4254)Gga>Tga	p.G1418*		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1418						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CAGGTGGGTCCATACCAGCCA	0.393																																					p.G1418X		Atlas-SNP	.											.	VWDE	123	.	0			c.G4252T						PASS	.						101.0	92.0	94.0					7																	12381703		692	1591	2283	SO:0001587	stop_gained	221806	exon23			TGGGTCCATACCA		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.4252G>T	7.37:g.12381703C>A	ENSP00000275358:p.Gly1418*	64.0	0.0	0		54.0	8.0	0.148148	NM_001135924	B7ZM77|Q96SQ3	Nonsense_Mutation	SNP	ENST00000275358.3	37	CCDS47544.1	.	.	.	.	.	.	.	.	.	.	C	45	11.603821	0.99581	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	.	.	.	4.26	3.38	0.38709	.	0.162158	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3271	0.55018	0.0:0.9168:0.0:0.0832	.	.	.	.	X	1418;872	.	ENSP00000275358:G1418X	G	-	1	0	VWDE	12348228	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.482000	0.66833	1.140000	0.42260	0.650000	0.86243	GGA	.	.	none		0.393	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	
HLA-B	3106	hgsc.bcm.edu	37	6	31324576	31324576	+	Nonsense_Mutation	SNP	G	G	A	rs151341159|rs281864598|rs41553618		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:31324576G>A	ENST00000412585.2	-	2	260	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCCCTCCTGCTCTATCCAC	0.637									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.Q78X		Atlas-SNP	.											.	HLA-B	54	.	0			c.C232T						PASS	.						49.0	48.0	48.0					6																	31324576		2149	4170	6319	SO:0001587	stop_gained	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CCTCCTGCTCTAT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.232C>T	6.37:g.31324576G>A	ENSP00000399168:p.Gln78*	84.0	0.0	0		75.0	18.0	0.24	NM_005514	Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	14.19	2.460322	0.43736	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.16	3.16	0.36331	.	1.312210	0.06463	U	0.729762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	.	.	.	X	78;89	.	ENSP00000399168:Q78X	Q	-	1	0	HLA-B	31432555	0.000000	0.05858	0.581000	0.28614	0.013000	0.08279	-0.147000	0.10234	1.804000	0.52760	0.442000	0.29010	CAG	.	.	weak		0.637	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
CFH	3075	hgsc.bcm.edu	37	1	196716285	196716285	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:196716285G>A	ENST00000367429.4	+	22	3778	c.3538G>A	c.(3538-3540)Gca>Aca	p.A1180T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1180	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATAACATAGCATTAAGGTG	0.343																																					p.A1180T		Atlas-SNP	.											.	CFH	251	.	0			c.G3538A						PASS	.						140.0	138.0	138.0					1																	196716285		2203	4300	6503	SO:0001583	missense	3075	exon22			AACATAGCATTAA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3538G>A	1.37:g.196716285G>A	ENSP00000356399:p.Ala1180Thr	409.0	0.0	0		576.0	99.0	0.171875	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	3.487	-0.104608	0.06967	.	.	ENSG00000000971	ENST00000367429	D	0.82984	-1.67	4.48	-8.97	0.00758	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.53834	0.1821	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54016	-0.8356	9	0.13853	T	0.58	.	13.2549	0.60073	0.1389:0.2653:0.5958:0.0	.	1180	P08603	CFAH_HUMAN	T	1180	ENSP00000356399:A1180T	ENSP00000356399:A1180T	A	+	1	0	CFH	194982908	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.592000	0.00421	-2.554000	0.00477	-0.417000	0.06048	GCA	.	.	none		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
MAGEL2	54551	hgsc.bcm.edu	37	15	23890158	23890158	+	Missense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:23890158G>T	ENST00000532292.1	-	1	1017	c.923C>A	c.(922-924)cCa>cAa	p.P308Q		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	191	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCAGGGCCTTGGGCCCTGCCA	0.627																																					p.P911Q		Atlas-SNP	.											.	MAGEL2	108	.	0			c.C2732A						PASS	.						40.0	50.0	47.0					15																	23890158		2108	4257	6365	SO:0001583	missense	54551	exon1			GGCCTTGGGCCCT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.923C>A	15.37:g.23890158G>T	ENSP00000433433:p.Pro308Gln	92.0	0.0	0		85.0	14.0	0.164706	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	7.264	0.605704	0.14002	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.7	0.729	0.18266	.	.	.	.	.	T	0.20700	0.0498	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.22941	-1.0202	5	.	.	.	.	2.9645	0.05903	0.2333:0.0:0.5271:0.2396	.	.	.	.	K	340	.	.	Q	-	1	0	MAGEL2	21441251	0.079000	0.21365	0.005000	0.12908	0.204000	0.24138	1.099000	0.31013	0.163000	0.19507	-0.274000	0.10170	CAA	.	.	none		0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
LCE1A	353131	hgsc.bcm.edu	37	1	152800123	152800123	+	Missense_Mutation	SNP	G	G	A	rs141081392	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:152800123G>A	ENST00000335123.2	+	1	175	c.175G>A	c.(175-177)Ggc>Agc	p.G59S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	59	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTGGGGGCGGCTGCAGCTC	0.667																																					p.G59S		Atlas-SNP	.											.	LCE1A	23	.	0			c.G175A						PASS	.	T	SER/GLY	0,4406		0,0,2203	35.0	41.0	39.0		175	-3.2	0.7	1	dbSNP_134	39	2,8598		0,2,4298	no	missense	LCE1A	NM_178348.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	59/111	152800123	2,13004	2203	4300	6503	SO:0001583	missense	353131	exon1			GGGGGCGGCTGCA		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.175G>A	1.37:g.152800123G>A	ENSP00000334869:p.Gly59Ser	142.0	0.0	0		162.0	34.0	0.209877	NM_178348		Missense_Mutation	SNP	ENST00000335123.2	37	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864213	0.32977	0.0	2.33E-4	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.02944	4.1;4.1	1.63	-3.25	0.05079	.	0.000000	0.38663	N	0.001619	T	0.00468	0.0015	N	0.14661	0.345	0.09310	N	1	P	0.35780	0.52	B	0.20767	0.031	T	0.49643	-0.8918	10	0.87932	D	0	.	7.2939	0.26383	0.0:0.0:0.4666:0.5334	.	59	Q5T7P2	LCE1A_HUMAN	S	59	ENSP00000357755:G59S;ENSP00000334869:G59S	ENSP00000334869:G59S	G	+	1	0	LCE1A	151066747	0.001000	0.12720	0.686000	0.30086	0.613000	0.37349	-0.661000	0.05311	-0.857000	0.04115	-1.275000	0.01399	GGC	A|0.000;G|0.999;T|0.000	0.000	strong		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348	
EPHA6	285220	hgsc.bcm.edu	37	3	97466293	97466293	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:97466293C>T	ENST00000389672.5	+	17	3193	c.3155C>T	c.(3154-3156)cCg>cTg	p.P1052L		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	958						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTGAAGTTCCGGAATATCCT	0.393																																					p.P1052L		Atlas-SNP	.											.	EPHA6	439	.	0			c.C3155T						PASS	.						80.0	72.0	75.0					3																	97466293		1838	4102	5940	SO:0001583	missense	285220	exon17			AAGTTCCGGAATA	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3155C>T	3.37:g.97466293C>T	ENSP00000374323:p.Pro1052Leu	99.0	0.0	0		123.0	19.0	0.154472	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375336	0.42105	.	.	ENSG00000080224	ENST00000389672	T	0.74737	-0.87	5.39	5.39	0.77823	.	.	.	.	.	T	0.75561	0.3866	N	0.25485	0.75	0.80722	D	1	.	.	.	.	.	.	T	0.77755	-0.2469	7	0.66056	D	0.02	.	19.5176	0.95170	0.0:1.0:0.0:0.0	.	.	.	.	L	1052	ENSP00000374323:P1052L	ENSP00000374323:P1052L	P	+	2	0	EPHA6	98948983	0.119000	0.22226	0.891000	0.34965	0.612000	0.37316	2.873000	0.48475	2.688000	0.91661	0.585000	0.79938	CCG	.	.	none		0.393	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
MB21D2	151963	hgsc.bcm.edu	37	3	192516412	192516412	+	Silent	SNP	G	G	A	rs138837641	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:192516412G>A	ENST00000392452.2	-	2	1559	c.1239C>T	c.(1237-1239)acC>acT	p.T413T		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	413							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTCAATGGCGGTGCGCAAGT	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18319	0.001		0.0	False		,,,				2504	0.0				p.T413T		Atlas-SNP	.											MB21D2,NS,carcinoma,0,1	MB21D2	75	1	0			c.C1239T						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	53.0	50.0	51.0		1239	-10.5	0.1	3	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	MB21D2	NM_178496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		413/492	192516412	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151963	exon2			AATGGCGGTGCGC	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1239C>T	3.37:g.192516412G>A		62.0	0.0	0		59.0	21.0	0.355932	NM_178496	Q86VD8	Silent	SNP	ENST00000392452.2	37	CCDS3302.2																																																																																			G|1.000;A|0.000	0.000	strong		0.612	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496	
GHR	2690	hgsc.bcm.edu	37	5	42689036	42689036	+	Nonsense_Mutation	SNP	C	C	T	rs121909358		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:42689036C>T	ENST00000230882.4	+	4	371	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Nonsense_Mutation_p.R39*	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	61					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCACCTGAGCGAGAGACTTT	0.448																																					p.R68X		Atlas-SNP	.											.	GHR	94	.	0			c.C202T	GRCh37	CM910179	GHR	M	rs121909358	PASS	.						275.0	254.0	261.0					5																	42689036		2203	4300	6503	SO:0001587	stop_gained	2690	exon4			CCTGAGCGAGAGA		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.181C>T	5.37:g.42689036C>T	ENSP00000230882:p.Arg61*	129.0	0.0	0		134.0	31.0	0.231343	NM_001242399	Q9HCX2	Nonsense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	37	6.363108	0.97507	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	.	.	.	5.66	5.66	0.87406	.	0.207702	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.9137	15.027	0.71677	0.1429:0.8571:0.0:0.0	.	.	.	.	X	61;39;61	.	ENSP00000230882:R61X	R	+	1	2	GHR	42724793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.554000	0.36266	2.657000	0.90304	0.655000	0.94253	CGA	.	.	weak		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
CTDSP2	10106	hgsc.bcm.edu	37	12	58217705	58217705	+	Missense_Mutation	SNP	T	T	C	rs78662830		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:58217705T>C	ENST00000398073.2	-	7	975	c.672A>G	c.(670-672)atA>atG	p.I224M	CTDSP2_ENST00000547701.1_Missense_Mutation_p.I72M|MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000548823.1_Missense_Mutation_p.I51M	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	224	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CGGGGTGGAATATGTAAGAAG	0.577																																					p.I224M		Atlas-SNP	.											.	CTDSP2	25	.	0			c.A672G						PASS	.						42.0	44.0	43.0					12																	58217705		2042	4196	6238	SO:0001583	missense	10106	exon7			GTGGAATATGTAA	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.672A>G	12.37:g.58217705T>C	ENSP00000381148:p.Ile224Met	23.0	0.0	0		29.0	8.0	0.275862	NM_005730	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572529	0.45798	.	.	ENSG00000175215	ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.43	3.62	0.41486	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.044888	0.85682	D	0.000000	T	0.27663	0.0680	L	0.36672	1.1	0.58432	D	0.999997	B;D;P	0.69078	0.124;0.997;0.844	P;D;P	0.69479	0.482;0.964;0.749	T	0.01341	-1.1380	10	0.66056	D	0.02	-14.9731	9.633	0.39791	0.0745:0.0:0.7823:0.1432	.	98;51;224	B4DH48;F8W1I1;O14595	.;.;CTDS2_HUMAN	M	224;51;78;72	ENSP00000381148:I224M;ENSP00000447046:I51M;ENSP00000448386:I78M;ENSP00000446705:I72M	ENSP00000381148:I224M	I	-	3	3	CTDSP2	56503972	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	3.225000	0.51246	0.866000	0.35629	-1.048000	0.02349	ATA	.	.	alt		0.577	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730	
TSSC1	7260	hgsc.bcm.edu	37	2	3261073	3261073	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:3261073G>C	ENST00000382125.4	-	4	605	c.413C>G	c.(412-414)gCc>gGc	p.A138G	TSSC1_ENST00000398659.4_Missense_Mutation_p.A165G|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138G|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATCCTACCAGGCCATGTTGCC	0.562																																					p.A138G	Colon(140;1261 1762 4183 34270 49743)	Atlas-SNP	.											.	TSSC1	39	.	0			c.C413G						PASS	.						89.0	80.0	83.0					2																	3261073		2203	4300	6503	SO:0001583	missense	7260	exon4			TACCAGGCCATGT	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.413C>G	2.37:g.3261073G>C	ENSP00000371559:p.Ala138Gly	90.0	0.0	0		60.0	13.0	0.216667	NM_003310	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914595	0.72983	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.13657	2.57;2.57;2.57	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.15825	0.0381	L	0.60455	1.87	0.80722	D	1	P	0.45902	0.868	B	0.37692	0.256	T	0.08289	-1.0729	10	0.18276	T	0.48	.	18.6315	0.91361	0.0:0.0:1.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	G	138;165;138	ENSP00000371559:A138G;ENSP00000381652:A165G;ENSP00000389080:A138G	ENSP00000371559:A138G	A	-	2	0	TSSC1	3240080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.626000	0.88956	0.650000	0.86243	GCC	.	.	none		0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
UAP1	6675	hgsc.bcm.edu	37	1	162549371	162549371	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:162549371G>A	ENST00000367925.1	+	3	671	c.639G>A	c.(637-639)aaG>aaA	p.K213K	UAP1_ENST00000367924.1_Silent_p.K213K|UAP1_ENST00000271469.3_Silent_p.K213K|UAP1_ENST00000367926.4_Silent_p.K213K			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	213					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGAAGAGAAGAACAAAGTTT	0.323																																					p.K213K		Atlas-SNP	.											.	UAP1	47	.	0			c.G639A						PASS	.						67.0	71.0	70.0					1																	162549371		2200	4300	6500	SO:0001819	synonymous_variant	6675	exon4			AGAGAAGAACAAA	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.639G>A	1.37:g.162549371G>A		23.0	0.0	0		38.0	10.0	0.263158	NM_003115	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37																																																																																				.	.	none		0.323	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115	
EFHC1	114327	hgsc.bcm.edu	37	6	52288818	52288818	+	Silent	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:52288818G>C	ENST00000371068.5	+	2	241	c.138G>C	c.(136-138)ggG>ggC	p.G46G	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Silent_p.G27G	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	46						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAACAGTTGGGATAGGCGGAG	0.498																																					p.G46G		Atlas-SNP	.											EFHC1,right_lower_lobe,carcinoma,0,1	EFHC1	68	1	0			c.G138C						PASS	.						99.0	92.0	94.0					6																	52288818		2203	4300	6503	SO:0001819	synonymous_variant	114327	exon2			AGTTGGGATAGGC	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.138G>C	6.37:g.52288818G>C		47.0	0.0	0		58.0	13.0	0.224138	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	CCDS4942.1																																																																																			.	.	none		0.498	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
DISC1	27185	hgsc.bcm.edu	37	1	231931010	231931010	+	Missense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:231931010C>A	ENST00000602281.1	+	7	1710	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.L553I|DISC1_ENST00000366636.4_Missense_Mutation_p.L553I|DISC1_ENST00000539444.1_Missense_Mutation_p.L553I|DISC1_ENST00000366633.3_Missense_Mutation_p.L553I|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.L553I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	553	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AATAAAATCCCTCAACTTGTC	0.353																																					p.L585I		Atlas-SNP	.											.	DISC1	207	.	0			c.C1753A						PASS	.						84.0	85.0	85.0					1																	231931010		2203	4300	6503	SO:0001583	missense	27185	exon8			AAATCCCTCAACT	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1657C>A	1.37:g.231931010C>A	ENSP00000473425:p.Leu553Ile	77.0	0.0	0		102.0	24.0	0.235294	NM_001164537	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171714	0.57584	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633;ENST00000539444	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	4.72	3.8	0.43715	.	0.079041	0.51477	D	0.000093	D	0.86760	0.6010	L	0.54323	1.7	0.80722	D	1	D;D;D;P;D;D;P;D;D;P;P;D;P;D;P;P	0.76494	0.986;0.999;0.989;0.75;0.972;0.998;0.513;0.972;0.972;0.754;0.75;0.986;0.859;0.986;0.859;0.754	P;D;P;B;P;P;B;P;P;B;B;P;B;P;P;B	0.67725	0.799;0.953;0.846;0.292;0.536;0.885;0.191;0.536;0.536;0.37;0.292;0.683;0.435;0.683;0.586;0.37	D	0.86889	0.2047	10	0.72032	D	0.01	-7.753	9.8129	0.40835	0.0:0.8338:0.0:0.1662	.	585;431;585;553;553;431;553;553;553;553;553;553;553;553;553;553	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P095;C4P0B6;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	I	553;553;553;585;431;553;553;553	ENSP00000403888:L553I;ENSP00000355596:L553I;ENSP00000443996:L553I;ENSP00000355593:L553I;ENSP00000440953:L553I	ENSP00000355593:L553I	L	+	1	0	DISC1	229997633	0.837000	0.29446	0.983000	0.44433	0.993000	0.82548	1.489000	0.35562	1.312000	0.45043	0.557000	0.71058	CTC	.	.	none		0.353	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
SEMA3E	9723	hgsc.bcm.edu	37	7	83036446	83036446	+	Silent	SNP	G	G	A	rs533306215		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:83036446G>A	ENST00000307792.3	-	7	1247	c.780C>T	c.(778-780)caC>caT	p.H260H	SEMA3E_ENST00000427262.1_Silent_p.H200H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTAAATTGCGTGAGCATTGT	0.403																																					p.H260H		Atlas-SNP	.											.	SEMA3E	125	.	0			c.C780T						PASS	.						116.0	108.0	111.0					7																	83036446		2203	4300	6503	SO:0001819	synonymous_variant	9723	exon7			AATTGCGTGAGCA	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.780C>T	7.37:g.83036446G>A		48.0	0.0	0		54.0	14.0	0.259259	NM_012431	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																			.	.	none		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
PIM1	5292	hgsc.bcm.edu	37	6	37138372	37138372	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:37138372C>T	ENST00000373509.5	+	1	394	c.21C>T	c.(19-21)aaC>aaT	p.N7N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	98					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCAAAATCAACTCGCTTGCCC	0.721			T	BCL6	NHL																																p.N98N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C294T						PASS	.						31.0	31.0	31.0					6																	37138372		2202	4298	6500	SO:0001819	synonymous_variant	5292	exon1			AATCAACTCGCTT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.21C>T	6.37:g.37138372C>T		58.0	0.0	0		44.0	10.0	0.227273	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		
CRTAM	56253	hgsc.bcm.edu	37	11	122726409	122726409	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:122726409C>T	ENST00000227348.4	+	5	544	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATAGGTGGAACGCTCCATGAA	0.408																																					p.T166M		Atlas-SNP	.											.	CRTAM	50	.	0			c.C497T						PASS	.						96.0	92.0	93.0					11																	122726409		2202	4299	6501	SO:0001583	missense	56253	exon5			GTGGAACGCTCCA	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.497C>T	11.37:g.122726409C>T	ENSP00000227348:p.Thr166Met	66.0	0.0	0		116.0	20.0	0.172414	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972531	0.53614	.	.	ENSG00000109943	ENST00000227348	T	0.78364	-1.17	4.86	0.531	0.17108	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.419648	0.24831	N	0.035252	T	0.78444	0.4284	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	P	0.56398	0.797	T	0.68492	-0.5394	10	0.62326	D	0.03	.	4.9511	0.14015	0.3121:0.5166:0.0:0.1712	.	166	O95727	CRTAM_HUMAN	M	166	ENSP00000227348:T166M	ENSP00000227348:T166M	T	+	2	0	CRTAM	122231619	0.001000	0.12720	0.000000	0.03702	0.357000	0.29423	0.155000	0.16362	-0.090000	0.12462	0.462000	0.41574	ACG	.	.	none		0.408	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	
CBLN2	147381	hgsc.bcm.edu	37	18	70205920	70205920	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:70205920C>T	ENST00000269503.4	-	4	1218	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	CBLN2_ENST00000584764.1_Missense_Mutation_p.V33M|CBLN2_ENST00000581073.1_Missense_Mutation_p.V35M|CBLN2_ENST00000585159.1_Missense_Mutation_p.V149M|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				ACTTTGACCACGTGGAAGCTG	0.403																																					p.V149M		Atlas-SNP	.											.	CBLN2	41	.	0			c.G445A						PASS	.						121.0	115.0	117.0					18																	70205920		2203	4300	6503	SO:0001583	missense	147381	exon4			TGACCACGTGGAA	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.445G>A	18.37:g.70205920C>T	ENSP00000269503:p.Val149Met	83.0	0.0	0		96.0	33.0	0.34375	NM_182511	Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948914	0.53186	.	.	ENSG00000141668	ENST00000269503	T	0.76839	-1.05	5.51	5.51	0.81932	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85208	0.1019	10	0.34782	T	0.22	-27.0636	19.7945	0.96474	0.0:1.0:0.0:0.0	.	149	Q8IUK8	CBLN2_HUMAN	M	149	ENSP00000269503:V149M	ENSP00000269503:V149M	V	-	1	0	CBLN2	68356900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.769000	0.85360	2.746000	0.94184	0.591000	0.81541	GTG	.	.	none		0.403	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
FAM120B	84498	hgsc.bcm.edu	37	6	170704591	170704591	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:170704591G>A	ENST00000476287.1	+	9	2724	c.2616G>A	c.(2614-2616)caG>caA	p.Q872Q	FAM120B_ENST00000540480.1_Silent_p.Q884Q|FAM120B_ENST00000252510.9_Silent_p.Q204Q|FAM120B_ENST00000537664.1_Silent_p.Q895Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	872					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGGGAAGACAGGGCTCCAGCT	0.542																																					p.Q872Q		Atlas-SNP	.											.	FAM120B	108	.	0			c.G2616A						PASS	.						45.0	37.0	40.0					6																	170704591		2196	4293	6489	SO:0001819	synonymous_variant	84498	exon9			AAGACAGGGCTCC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2616G>A	6.37:g.170704591G>A		46.0	0.0	0		61.0	20.0	0.327869	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																			.	.	none		0.542	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
IRF2BPL	64207	hgsc.bcm.edu	37	14	77493827	77493827	+	Silent	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:77493827T>C	ENST00000238647.3	-	1	1207	c.309A>G	c.(307-309)caA>caG	p.Q103Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	103	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgttgctgttgcgcggcgg	0.701																																					p.Q103Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.A309G						PASS	.						1.0	1.0	1.0					14																	77493827		1045	1849	2894	SO:0001819	synonymous_variant	64207	exon1			TTGCTGTTGCGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.309A>G	14.37:g.77493827T>C		25.0	0.0	0		27.0	5.0	0.185185	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	none		0.701	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
NBPF10	100132406	hgsc.bcm.edu	37	1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	rs55936365		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V		Atlas-SNP	.											NBPF10,NS,carcinoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	kidney(2)	c.C130G						scavenged	.																																			SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val	62.0	0.0	0		86.0	7.0	0.0813954	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT	.	.	weak		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703	
SOCS1	8651	hgsc.bcm.edu	37	16	11349190	11349190	+	Missense_Mutation	SNP	G	G	A	rs587778691		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:11349190G>A	ENST00000332029.2	-	2	296	c.146C>T	c.(145-147)gCc>gTc	p.A49V	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	49					cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.A37fs*27(2)|p.A49fs*66(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GTcgccgggggccggggccgg	0.761			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""																																p.A49V	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	4	Deletion - Frameshift(3)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(4)	c.C146T						PASS	.						1.0	1.0	1.0					16																	11349190		979	2206	3185	SO:0001583	missense	8651	exon2			CCGGGGGCCGGGG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.146C>T	16.37:g.11349190G>A	ENSP00000329418:p.Ala49Val	23.0	0.0	0		27.0	12.0	0.444444	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885981	0.17540	.	.	ENSG00000185338	ENST00000332029	T	0.23552	1.9	3.98	1.87	0.25490	.	0.795116	0.11431	N	0.564788	T	0.12220	0.0297	N	0.22421	0.69	0.20638	N	0.999874	B	0.34103	0.437	B	0.27500	0.08	T	0.22765	-1.0207	10	0.10636	T	0.68	-23.3662	6.1919	0.20528	0.2106:0.2012:0.5882:0.0	.	49	O15524	SOCS1_HUMAN	V	49	ENSP00000329418:A49V	ENSP00000329418:A49V	A	-	2	0	SOCS1	11256691	0.952000	0.32445	0.995000	0.50966	0.324000	0.28378	3.694000	0.54742	0.652000	0.30806	-0.448000	0.05591	GCC	.	.	none		0.761	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1		
TCF3	6929	hgsc.bcm.edu	37	19	1650209	1650209	+	Silent	SNP	G	G	A	rs373351484		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:1650209G>A	ENST00000262965.5	-	2	383	c.39C>T	c.(37-39)gaC>gaT	p.D13D	TCF3_ENST00000344749.5_Silent_p.D13D|TCF3_ENST00000588136.1_Silent_p.D13D|TCF3_ENST00000395423.3_Silent_p.D13D	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	CTNNB1-binding. {ECO:0000250}.|Gly-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCTCCTTGTCTGTGCCCA	0.642			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																p.D13D		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.C39T						PASS	.						42.0	43.0	43.0					19																	1650209		2179	4269	6448	SO:0001819	synonymous_variant	6929	exon2			CTCCTTGTCTGTG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.39C>T	19.37:g.1650209G>A		22.0	0.0	0		37.0	11.0	0.297297	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			.	.	alt		0.642	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E		Atlas-SNP	.											PRKCSH,caecum,carcinoma,0,1	PRKCSH	55	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A						scavenged	.						27.0	27.0	27.0					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A		49.0	1.0	0.0204082		57.0	5.0	0.0877193	NM_001001329	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.	.	weak		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
TGM7	116179	hgsc.bcm.edu	37	15	43577071	43577071	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:43577071G>A	ENST00000452443.2	-	7	949	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	315					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGTACGTATCGATGGTCAAGT	0.443																																					p.I315I		Atlas-SNP	.											.	TGM7	86	.	0			c.C945T						PASS	.						242.0	196.0	212.0					15																	43577071		2202	4299	6501	SO:0001819	synonymous_variant	116179	exon7			CGTATCGATGGTC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.945C>T	15.37:g.43577071G>A		84.0	0.0	0		95.0	38.0	0.4	NM_052955		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																			.	.	none		0.443	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
AURKB	9212	hgsc.bcm.edu	37	17	8108608	8108608	+	Missense_Mutation	SNP	A	A	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:8108608A>T	ENST00000585124.1	-	8	880	c.787T>A	c.(787-789)Tgc>Agc	p.C263S	AURKB_ENST00000316199.6_Missense_Mutation_p.C264S|AURKB_ENST00000534871.1_Missense_Mutation_p.C222S|AURKB_ENST00000578549.1_Missense_Mutation_p.C231S|AURKB_ENST00000535053.1_3'UTR	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						AGCTCATAGCAAAGCACTCCA	0.582																																					p.C263S	NSCLC(134;1161 2470 43664 51568)	Atlas-SNP	.											.	AURKB	47	.	0			c.T787A						PASS	.						156.0	118.0	131.0					17																	8108608		2203	4300	6503	SO:0001583	missense	9212	exon8			CATAGCAAAGCAC	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.787T>A	17.37:g.8108608A>T	ENSP00000463999:p.Cys263Ser	52.0	0.0	0		65.0	20.0	0.307692	NM_004217	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.832058	0.91036	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.64991	-0.13	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.16790	0.44	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.68330	-0.5437	10	0.87932	D	0	-22.5833	13.3096	0.60371	1.0:0.0:0.0:0.0	.	263;263	C7G533;Q96GD4	.;AURKB_HUMAN	S	263;222	ENSP00000443869:C222S	ENSP00000313950:C263S	C	-	1	0	AURKB	8049333	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.088000	0.94132	2.249000	0.74217	0.528000	0.53228	TGC	.	.	none		0.582	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217	
HIST1H1E	3008	hgsc.bcm.edu	37	6	26156985	26156985	+	Missense_Mutation	SNP	G	G	C	rs199659170	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26156985G>C	ENST00000304218.3	+	1	427	c.367G>C	c.(367-369)Gca>Cca	p.A123P	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	123					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCTAAAAAGGCAGGCGCGGC	0.637																																					p.A123P		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.G367C						PASS	.						20.0	27.0	25.0					6																	26156985		2203	4300	6503	SO:0001583	missense	3008	exon1			AAAAAGGCAGGCG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.367G>C	6.37:g.26156985G>C	ENSP00000307705:p.Ala123Pro	67.0	0.0	0		88.0	24.0	0.272727	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	4.950	0.176497	0.09443	.	.	ENSG00000168298	ENST00000304218	T	0.15487	2.42	5.51	2.52	0.30459	.	0.795350	0.11485	N	0.559313	T	0.02767	0.0083	N	0.19112	0.55	0.31036	N	0.71687	B	0.02656	0.0	B	0.01281	0.0	T	0.40757	-0.9546	10	0.33141	T	0.24	-0.0758	1.85	0.03167	0.1645:0.1346:0.4251:0.2758	.	123	P10412	H14_HUMAN	P	123	ENSP00000307705:A123P	ENSP00000307705:A123P	A	+	1	0	HIST1H1E	26264964	0.000000	0.05858	0.840000	0.33206	0.022000	0.10575	-0.096000	0.11059	0.756000	0.33013	0.561000	0.74099	GCA	G|1.000;A|0.000	.	alt		0.637	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
HIST1H1D	3007	hgsc.bcm.edu	37	6	26234976	26234976	+	Silent	SNP	C	C	T	rs150400552		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26234976C>T	ENST00000244534.5	-	1	240	c.186G>A	c.(184-186)gcG>gcA	p.A62A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	62	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTCTTAAGCGCGGCCAGAG	0.547																																					p.A62A		Atlas-SNP	.											.	HIST1H1D	40	.	0			c.G186A						PASS	.						82.0	89.0	87.0					6																	26234976		2203	4300	6503	SO:0001819	synonymous_variant	3007	exon1			CTTAAGCGCGGCC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.186G>A	6.37:g.26234976C>T		161.0	0.0	0		179.0	53.0	0.296089	NM_005320	B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	CCDS4597.1																																																																																			C|1.000;A|0.000	.	alt		0.547	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320	
TMEM102	284114	hgsc.bcm.edu	37	17	7339603	7339603	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:7339603G>C	ENST00000323206.1	+	3	578	c.305G>C	c.(304-306)gGg>gCg	p.G102A	RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.G102A|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	102					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTGGATCTGGGGCATGCACCC	0.607																																					p.G102A		Atlas-SNP	.											.	TMEM102	11	.	0			c.G305C						PASS	.						46.0	50.0	49.0					17																	7339603		2203	4300	6503	SO:0001583	missense	284114	exon3			ATCTGGGGCATGC	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.305G>C	17.37:g.7339603G>C	ENSP00000315387:p.Gly102Ala	29.0	0.0	0		36.0	8.0	0.222222	NM_178518	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175575	0.78564	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.44083	0.93;0.93	5.36	5.36	0.76844	.	0.000000	0.53938	D	0.000049	T	0.61098	0.2320	M	0.65975	2.015	0.38711	D	0.953215	D	0.76494	0.999	D	0.68039	0.955	T	0.65911	-0.6053	10	0.59425	D	0.04	-10.7966	14.5838	0.68310	0.0:0.0:1.0:0.0	.	102	Q8N9M5	TM102_HUMAN	A	102	ENSP00000315387:G102A;ENSP00000379815:G102A	ENSP00000315387:G102A	G	+	2	0	TMEM102	7280327	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	3.066000	0.50002	2.498000	0.84270	0.655000	0.94253	GGG	.	.	none		0.607	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518	
ARID5B	84159	hgsc.bcm.edu	37	10	63661942	63661942	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:63661942C>T	ENST00000279873.7	+	2	456	c.46C>T	c.(46-48)Cac>Tac	p.H16Y		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	16					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GTGTGGCTTGCACGGACCTTA	0.438																																					p.H16Y		Atlas-SNP	.											.	ARID5B	125	.	0			c.C46T						PASS	.						95.0	103.0	100.0					10																	63661942		2203	4300	6503	SO:0001583	missense	84159	exon2			GGCTTGCACGGAC	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.46C>T	10.37:g.63661942C>T	ENSP00000279873:p.His16Tyr	155.0	0.0	0		133.0	30.0	0.225564	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742927	0.69418	.	.	ENSG00000150347	ENST00000279873	T	0.53640	0.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.65498	2.005	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.991;0.983	T	0.70310	-0.4907	10	0.87932	D	0	-19.9629	18.7117	0.91659	0.0:1.0:0.0:0.0	.	16;16	Q14865-3;Q14865	.;ARI5B_HUMAN	Y	16	ENSP00000279873:H16Y	ENSP00000279873:H16Y	H	+	1	0	ARID5B	63331948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.809000	0.75211	2.712000	0.92718	0.650000	0.86243	CAC	.	.	none		0.438	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
MUC21	394263	hgsc.bcm.edu	37	6	30954618	30954618	+	Silent	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:30954618T>C	ENST00000376296.3	+	2	907	c.666T>C	c.(664-666)gcT>gcC	p.A222A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	222	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAATGGGGCTGGCACAGCCA	0.637																																					p.A222A		Atlas-SNP	.											MUC21,rectum,carcinoma,0,2	MUC21	98	2	0			c.T666C						scavenged	.						149.0	149.0	149.0					6																	30954618		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			TGGGGCTGGCACA	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.666T>C	6.37:g.30954618T>C		23.0	2.0	0.0869565		37.0	5.0	0.135135	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																			.	.	none		0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
PTPN6	5777	hgsc.bcm.edu	37	12	7067131	7067131	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:7067131A>G	ENST00000318974.9	+	11	1500	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	PTPN6_ENST00000447931.2_Missense_Mutation_p.D380G|PTPN6_ENST00000456013.1_Missense_Mutation_p.D419G|PTPN6_ENST00000399448.1_Missense_Mutation_p.D421G	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	419	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGCTGGCCCGACCATGGGGTC	0.612																																					p.D421G		Atlas-SNP	.											.	PTPN6	42	.	0			c.A1262G						PASS	.						65.0	71.0	69.0					12																	7067131		1956	4143	6099	SO:0001583	missense	5777	exon11			GGCCCGACCATGG		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1256A>G	12.37:g.7067131A>G	ENSP00000326010:p.Asp419Gly	39.0	0.0	0		42.0	20.0	0.47619	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834452	0.91036	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.08	5.08	0.68730	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	H	0.98849	4.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996	D;D;D;D;D	0.97110	1.0;0.998;0.997;0.999;0.96	D	0.97996	1.0357	10	0.87932	D	0	.	14.8457	0.70259	1.0:0.0:0.0:0.0	.	407;380;419;419;421	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	G	421;380;419;419	ENSP00000382376:D421G;ENSP00000415979:D380G;ENSP00000326010:D419G;ENSP00000391592:D419G	ENSP00000326010:D419G	D	+	2	0	PTPN6	6937392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.307000	0.96226	1.901000	0.55032	0.459000	0.35465	GAC	.	.	none		0.612	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
DNMT3L	29947	hgsc.bcm.edu	37	21	45680710	45680710	+	Missense_Mutation	SNP	T	T	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr21:45680710T>C	ENST00000418993.1	-	3	602	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	DNMT3L_ENST00000270172.3_Missense_Mutation_p.Y40C	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	40					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTTGACTTCATATGCAATAAG	0.438																																					p.Y40C		Atlas-SNP	.											.	DNMT3L	33	.	0			c.A119G						PASS	.						174.0	164.0	168.0					21																	45680710		2203	4299	6502	SO:0001583	missense	29947	exon3			ACTTCATATGCAA	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.119A>G	21.37:g.45680710T>C	ENSP00000412862:p.Tyr40Cys	131.0	0.0	0		133.0	31.0	0.233083	NM_013369	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	T	7.270	0.606979	0.14002	.	.	ENSG00000142182	ENST00000270172;ENST00000418993	D;D	0.83075	-1.68;-1.68	3.6	2.36	0.29203	.	0.342864	0.27375	N	0.019645	D	0.86318	0.5904	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.947	T	0.75274	-0.3375	10	0.42905	T	0.14	-17.0402	5.8846	0.18874	0.2344:0.0:0.0:0.7656	.	40;40	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	C	40	ENSP00000270172:Y40C;ENSP00000412862:Y40C	ENSP00000270172:Y40C	Y	-	2	0	DNMT3L	44505138	0.975000	0.34042	0.019000	0.16419	0.019000	0.09904	4.241000	0.58707	0.511000	0.28236	0.379000	0.24179	TAT	.	.	none		0.438	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
PDE3A	5139	hgsc.bcm.edu	37	12	20522508	20522508	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:20522508C>T	ENST00000359062.3	+	1	330	c.290C>T	c.(289-291)gCg>gTg	p.A97V	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	97	Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGGCGGCGGCGGCGGAGGAG	0.746																																					p.A97V		Atlas-SNP	.											.	PDE3A	184	.	0			c.C290T						PASS	.						4.0	4.0	4.0					12																	20522508		2044	4045	6089	SO:0001583	missense	5139	exon1			CGGCGGCGGCGGA		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.290C>T	12.37:g.20522508C>T	ENSP00000351957:p.Ala97Val	58.0	0.0	0		63.0	17.0	0.269841	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224155	0.39300	.	.	ENSG00000172572	ENST00000359062	T	0.66099	-0.19	4.9	2.78	0.32641	.	1.198670	0.06095	N	0.664382	T	0.41119	0.1145	N	0.08118	0	0.26441	N	0.975772	P	0.51351	0.944	B	0.40228	0.323	T	0.34054	-0.9844	10	0.56958	D	0.05	.	6.2375	0.20772	0.3302:0.5183:0.1515:0.0	.	97	Q14432	PDE3A_HUMAN	V	97	ENSP00000351957:A97V	ENSP00000351957:A97V	A	+	2	0	PDE3A	20413775	0.766000	0.28496	0.988000	0.46212	0.517000	0.34286	0.127000	0.15790	1.002000	0.39104	0.449000	0.29647	GCG	.	.	none		0.746	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
JAG1	182	hgsc.bcm.edu	37	20	10633195	10633195	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:10633195C>T	ENST00000254958.5	-	6	1322	c.807G>A	c.(805-807)ccG>ccA	p.P269P	JAG1_ENST00000423891.2_Silent_p.P110P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	269	EGF-like 2; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> L (in ALGS1). {ECO:0000269|PubMed:12497640}.		angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGACGCATCCCGGGTGTGGGA	0.567									Alagille Syndrome																												p.P269P		Atlas-SNP	.											JAG1_ENST00000254958,colon,carcinoma,0,2	JAG1	213	2	0			c.G807A						PASS	.						60.0	53.0	55.0					20																	10633195		2203	4300	6503	SO:0001819	synonymous_variant	182	exon6	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GCATCCCGGGTGT	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.807G>A	20.37:g.10633195C>T		88.0	0.0	0		66.0	16.0	0.242424	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			.	.	none		0.567	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
UGT2B7	7364	hgsc.bcm.edu	37	4	69962771	69962771	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:69962771A>G	ENST00000508661.1	+	1	560	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.Y178C			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	178					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCTCCTGGCTACACTTTTGAA	0.408																																					p.Y178C		Atlas-SNP	.											.	UGT2B7	79	.	0			c.A533G						PASS	.						126.0	125.0	126.0					4																	69962771		2203	4298	6501	SO:0001583	missense	7364	exon1			CTGGCTACACTTT	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.533A>G	4.37:g.69962771A>G	ENSP00000427659:p.Tyr178Cys	165.0	0.0	0		205.0	48.0	0.234146	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	A	9.009	0.981926	0.18812	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.423820	0.17969	U	0.155940	T	0.61413	0.2345	L	0.37466	1.105	0.09310	N	1	D;B	0.67145	0.996;0.11	D;B	0.70016	0.967;0.292	T	0.47509	-0.9112	9	.	.	.	.	8.5583	0.33494	1.0:0.0:0.0:0.0	.	178;178	E9PBP8;P16662	.;UD2B7_HUMAN	C	178	ENSP00000304811:Y178C;ENSP00000427659:Y178C	.	Y	+	2	0	UGT2B7	69997360	0.008000	0.16893	0.002000	0.10522	0.005000	0.04900	2.511000	0.45476	1.157000	0.42530	0.260000	0.18958	TAC	.	.	none		0.408	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
PGR	5241	hgsc.bcm.edu	37	11	100999588	100999588	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:100999588C>T	ENST00000325455.5	-	1	1667	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.E72K	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	72	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCGTCTTTTCGTCGGAGGGG	0.617																																					p.E72K	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.G214A						PASS	.						63.0	54.0	57.0					11																	100999588		2203	4300	6503	SO:0001583	missense	5241	exon1			TCTTTTCGTCGGA	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.214G>A	11.37:g.100999588C>T	ENSP00000325120:p.Glu72Lys	56.0	0.0	0		49.0	15.0	0.306122	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	2.430	-0.331127	0.05314	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09723	2.95;2.95	4.0	2.06	0.26882	.	1.260700	0.05663	N	0.587210	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B;B	0.31581	0.329;0.197	B;B	0.20577	0.03;0.03	T	0.40213	-0.9575	10	0.38643	T	0.18	.	11.1299	0.48341	0.0:0.6386:0.3614:0.0	.	72;72	Q8TDS3;P06401	.;PRGR_HUMAN	K	72	ENSP00000325120:E72K;ENSP00000263463:E72K	ENSP00000263463:E72K	E	-	1	0	PGR	100504798	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	-0.197000	0.09518	0.329000	0.23460	0.561000	0.74099	GAA	.	.	none		0.617	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
PTCHD4	442213	hgsc.bcm.edu	37	6	47976501	47976501	+	Missense_Mutation	SNP	C	C	T	rs143420847	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:47976501C>T	ENST00000339488.4	-	2	809	c.776G>A	c.(775-777)cGc>cAc	p.R259H	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R242H	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	259	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGGCTTACTGCGCAAGCAGTC	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18423	0.0		0.001	False		,,,				2504	0.0				p.R259H		Atlas-SNP	.											.	.	.	.	0			c.G776A						PASS	.	C	HIS/ARG,HIS/ARG	1,4045		0,1,2022	58.0	59.0	59.0		776,776	6.2	1.0	6	dbSNP_134	59	0,8406		0,0,4203	no	missense,missense	C6orf138	NM_001013732.3,NM_207499.2	29,29	0,1,6225	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging,probably-damaging	259/847,259/312	47976501	1,12451	2023	4203	6226	SO:0001583	missense	442213	exon2			TTACTGCGCAAGC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.776G>A	6.37:g.47976501C>T	ENSP00000341914:p.Arg259His	90.0	0.0	0		116.0	34.0	0.293103	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.8	5.039983	0.93630	2.47E-4	0.0	ENSG00000244694	ENST00000339488;ENST00000543600	D;D	0.86230	-2.09;-2.09	6.16	6.16	0.99307	Sterol-sensing domain (1);	0.049562	0.85682	D	0.000000	D	0.93051	0.7788	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91320	0.5081	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	259;242	Q6ZW05;B0QZ29	CF138_HUMAN;.	H	259;242	ENSP00000341914:R259H;ENSP00000439864:R242H	ENSP00000341914:R259H	R	-	2	0	C6orf138	48084460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGC	C|1.000;T|0.000	0.000	strong		0.557	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
MDN1	23195	hgsc.bcm.edu	37	6	90466006	90466006	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:90466006C>T	ENST00000369393.3	-	20	2921	c.2806G>A	c.(2806-2808)Gga>Aga	p.G936R	MDN1_ENST00000428876.1_Missense_Mutation_p.G936R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	936					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTATGATTCCTTGCACTGTA	0.333																																					p.G936R		Atlas-SNP	.											MDN1,NS,carcinoma,0,1	MDN1	478	1	0			c.G2806A						PASS	.						199.0	193.0	195.0					6																	90466006		2202	4296	6498	SO:0001583	missense	23195	exon20			TGATTCCTTGCAC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2806G>A	6.37:g.90466006C>T	ENSP00000358400:p.Gly936Arg	126.0	0.0	0		129.0	34.0	0.263566	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402192	0.62288	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.38240	1.15;1.15;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	L	0.39085	1.19	0.80722	D	1	B;B	0.33345	0.409;0.308	B;B	0.37550	0.168;0.253	T	0.04400	-1.0954	10	0.17832	T	0.49	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	863;936	Q5T795;Q9NU22	.;MDN1_HUMAN	R	936;936;863	ENSP00000358400:G936R;ENSP00000413970:G936R;ENSP00000409664:G863R	ENSP00000358400:G936R	G	-	1	0	MDN1	90522727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.949000	0.75971	2.826000	0.97356	0.563000	0.77884	GGA	.	.	none		0.333	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
FDPS	2224	hgsc.bcm.edu	37	1	155288031	155288031	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:155288031C>T	ENST00000356657.6	+	6	795	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Silent_p.L211L|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Silent_p.L145L|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	211					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGCTGAAGCTCTATTGCCGGG	0.542																																					p.L211L		Atlas-SNP	.											FDPS,right_lower_lobe,carcinoma,0,1	FDPS	41	1	0			c.C633T						PASS	.						77.0	73.0	74.0					1																	155288031		2203	4300	6503	SO:0001819	synonymous_variant	2224	exon6			GAAGCTCTATTGC	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.633C>T	1.37:g.155288031C>T		36.0	0.0	0		73.0	20.0	0.273973	NM_001135821	D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	CCDS1110.1																																																																																			.	.	none		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004	
IGFN1	91156	hgsc.bcm.edu	37	1	201182456	201182456	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:201182456C>T	ENST00000335211.4	+	12	8565	c.8435C>T	c.(8434-8436)cCt>cTt	p.P2812L	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGGAGGCCTGGCTCACTC	0.637																																					p.P2812L		Atlas-SNP	.											.	IGFN1	220	.	0			c.C8435T						PASS	.						45.0	52.0	50.0					1																	201182456		692	1591	2283	SO:0001583	missense	91156	exon12			GGAGGCCTGGCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8435C>T	1.37:g.201182456C>T	ENSP00000334714:p.Pro2812Leu	88.0	0.0	0		135.0	25.0	0.185185	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372301	0.24857	.	.	ENSG00000163395	ENST00000335211	T	0.54071	0.59	3.54	-3.87	0.04218	.	.	.	.	.	T	0.34164	0.0888	N	0.22421	0.69	0.09310	N	0.999999	.	.	.	.	.	.	T	0.32929	-0.9888	7	0.48119	T	0.1	.	4.4927	0.11820	0.0:0.3952:0.2935:0.3113	.	.	.	.	L	2812	ENSP00000334714:P2812L	ENSP00000334714:P2812L	P	+	2	0	IGFN1	199449079	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.317000	0.02707	-0.920000	0.03799	-0.424000	0.05967	CCT	.	.	none		0.637	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
COL6A3	1293	hgsc.bcm.edu	37	2	238249705	238249705	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:238249705G>A	ENST00000295550.4	-	38	8306	c.7854C>T	c.(7852-7854)atC>atT	p.I2618I	COL6A3_ENST00000472056.1_Silent_p.I2011I|COL6A3_ENST00000346358.4_Silent_p.I2418I|COL6A3_ENST00000409809.1_Silent_p.I2412I|COL6A3_ENST00000347401.3_Silent_p.I2417I|COL6A3_ENST00000353578.4_Silent_p.I2412I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2618	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCATGTCGATGTCCACAT	0.517																																					p.I2618I		Atlas-SNP	.											.	COL6A3	608	.	0			c.C7854T						PASS	.						175.0	171.0	172.0					2																	238249705		2203	4300	6503	SO:0001819	synonymous_variant	1293	exon38			CATGTCGATGTCC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7854C>T	2.37:g.238249705G>A		80.0	0.0	0		105.0	39.0	0.371429	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			.	.	none		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
PTEN	5728	hgsc.bcm.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R335X		Atlas-SNP	.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,colon,carcinoma,-1,27	PTEN	3652	27	77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	c.C1003T	GRCh37	CM971278	PTEN	M	rs121909231	PASS	.						60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	exon8	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	GCCAACCGATACT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	157.0	0.0	0		160.0	28.0	0.175	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA	.	.	weak		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ZNF451	26036	hgsc.bcm.edu	37	6	56966784	56966784	+	Intron	SNP	C	C	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:56966784C>G	ENST00000370706.4	+	3	430				ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000491832.2_Intron|ZNF451_ENST00000370708.4_Missense_Mutation_p.H524D	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAGAAAGCACATTATCACAA	0.373																																					p.H524D		Atlas-SNP	.											.	ZNF451	181	.	0			c.C1570G						PASS	.																																			SO:0001627	intron_variant	26036	exon4			AAAGCACATTATC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.186+2845C>G	6.37:g.56966784C>G		36.0	0.0	0		45.0	13.0	0.288889	NM_001257273	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935383	0.34189	.	.	ENSG00000112200	ENST00000370708	T	0.66638	-0.22	4.44	3.57	0.40892	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	B	0.34015	0.435	B	0.31751	0.135	T	0.37478	-0.9704	8	0.38643	T	0.18	.	8.3228	0.32138	0.0:0.8949:0.0:0.1051	.	524	Q9Y4E5-4	.	D	524	ENSP00000359742:H524D	ENSP00000359742:H524D	H	+	1	0	ZNF451	57074743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	1.457000	0.47850	0.655000	0.94253	CAT	.	.	none		0.373	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
TTC30B	150737	hgsc.bcm.edu	37	2	178415820	178415820	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:178415820C>T	ENST00000408939.3	-	1	1922	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	558					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCATAATTTCCTTTGGCACAA	0.388																																					p.G558R		Atlas-SNP	.											.	TTC30B	44	.	0			c.G1672A						PASS	.						183.0	193.0	189.0					2																	178415820		2203	4300	6503	SO:0001583	missense	150737	exon1			AATTTCCTTTGGC	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1672G>A	2.37:g.178415820C>T	ENSP00000386181:p.Gly558Arg	239.0	0.0	0		291.0	76.0	0.261168	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352187	0.61183	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.21031	2.03	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67465	-0.5664	10	0.87932	D	0	.	18.5618	0.91102	0.0:1.0:0.0:0.0	.	558	Q8N4P2	TT30B_HUMAN	R	511;558	ENSP00000386181:G558R	ENSP00000386181:G558R	G	-	1	0	TTC30B	178124066	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.918000	0.75788	2.675000	0.91044	0.655000	0.94253	GGA	.	.	none		0.388	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
FMN2	56776	hgsc.bcm.edu	37	1	240635709	240635709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:240635709G>T	ENST00000319653.9	+	17	5328	c.5098G>T	c.(5098-5100)Gga>Tga	p.G1700*	FMN2_ENST00000543681.1_Nonsense_Mutation_p.G20*|FMN2_ENST00000545751.1_Nonsense_Mutation_p.G296*|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_3'UTR	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1700					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACAGAAGAAAGGAAAATCACT	0.318																																					p.G1700X		Atlas-SNP	.											.	FMN2	451	.	0			c.G5098T						PASS	.						77.0	85.0	82.0					1																	240635709		2203	4298	6501	SO:0001587	stop_gained	56776	exon17			AAGAAAGGAAAAT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5098G>T	1.37:g.240635709G>T	ENSP00000318884:p.Gly1700*	151.0	0.0	0		172.0	32.0	0.186047	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	40	8.160609	0.98683	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993;ENST00000543681	.	.	.	5.83	5.83	0.93111	.	0.192599	0.35555	N	0.003121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.3013	0.90164	0.0:0.0:1.0:0.0	.	.	.	.	X	1700;296;327;176;20	.	ENSP00000318884:G1700X	G	+	1	0	FMN2	238702332	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.247000	0.72411	2.758000	0.94735	0.655000	0.94253	GGA	.	.	none		0.318	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
MAN2C1	4123	hgsc.bcm.edu	37	15	75660458	75660458	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:75660458C>T	ENST00000267978.5	-	2	229	c.183G>A	c.(181-183)caG>caA	p.Q61Q	MAN2C1_ENST00000565683.1_Silent_p.Q61Q|MAN2C1_ENST00000563622.1_Silent_p.Q61Q|MAN2C1_ENST00000569482.1_Silent_p.Q61Q|MAN2C1_ENST00000563539.1_5'UTR|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	61					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAAGTCCCGCTGGACTGCCT	0.692																																					p.Q61Q		Atlas-SNP	.											.	MAN2C1	76	.	0			c.G183A						PASS	.						10.0	13.0	12.0					15																	75660458		2188	4278	6466	SO:0001819	synonymous_variant	4123	exon2			GTCCCGCTGGACT	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.183G>A	15.37:g.75660458C>T		51.0	0.0	0		61.0	16.0	0.262295	NM_001256494	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	CCDS32298.1																																																																																			.	.	none		0.692	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		
PCDHA9	9752	hgsc.bcm.edu	37	5	140229661	140229661	+	Missense_Mutation	SNP	G	G	C			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140229661G>C	ENST00000532602.1	+	1	2614	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E527D|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGAGGAGCTGGAGCTGC	0.677																																					p.E527D	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHA9	373	.	0			c.G1581C						PASS	.						61.0	69.0	66.0					5																	140229661		2194	4269	6463	SO:0001583	missense	9752	exon1			CGAGGAGCTGGAG	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1581G>C	5.37:g.140229661G>C	ENSP00000436042:p.Glu527Asp	76.0	0.0	0		74.0	24.0	0.324324	NM_031857	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511932	0.64522	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	3.56	3.56	0.40772	Cadherin (5);Cadherin-like (1);	0.265650	0.18860	U	0.129149	T	0.62319	0.2418	L	0.46567	1.45	0.21105	N	0.99979	B;D	0.71674	0.383;0.998	B;D	0.77557	0.151;0.99	T	0.50566	-0.8813	10	0.87932	D	0	.	9.3017	0.37849	0.1035:0.0:0.8965:0.0	.	527;527	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	D	527	ENSP00000436042:E527D;ENSP00000367362:E527D	ENSP00000367362:E527D	E	+	3	2	PCDHA9	140209845	0.000000	0.05858	1.000000	0.80357	0.957000	0.61999	0.283000	0.18846	1.973000	0.57446	0.306000	0.20318	GAG	.	.	none		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
FMO2	2327	hgsc.bcm.edu	37	1	171174750	171174750	+	Missense_Mutation	SNP	G	G	A	rs72549336|rs187393653		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:171174750G>A	ENST00000209929.7	+	7	1318	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R387H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	386					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCAAGCTCGTTGGGTGACA	0.468																																					p.R387H		Atlas-SNP	.											FMO2,NS,carcinoma,0,2	FMO2	66	2	0			c.G1160A						PASS	.						43.0	42.0	42.0					1																	171174750		2203	4299	6502	SO:0001583	missense	2327	exon7			AAGCTCGTTGGGT	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1160G>A	1.37:g.171174750G>A	ENSP00000209929:p.Arg387His	51.0	0.0	0		57.0	11.0	0.192982	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460870	0.96240	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.63580	-0.05;-0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	H	0.94385	3.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.85749	0.1342	10	0.72032	D	0.01	-17.9497	18.6468	0.91413	0.0:0.0:1.0:0.0	.	387	Q99518	FMO2_HUMAN	H	387	ENSP00000209929:R387H;ENSP00000405905:R387H	ENSP00000209929:R387H	R	+	2	0	FMO2	169441374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.732000	0.74790	2.768000	0.95171	0.655000	0.94253	CGT	G|1.000;T|0.000	.	alt		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
SLC5A5	6528	hgsc.bcm.edu	37	19	17984984	17984984	+	Missense_Mutation	SNP	G	G	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:17984984G>T	ENST00000222248.3	+	2	742	c.395G>T	c.(394-396)tGc>tTc	p.C132F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	132					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGCGGCTCTGCGGGACTTTG	0.672																																					p.C132F	Melanoma(65;1008 1708 7910 46650)	Atlas-SNP	.											.	SLC5A5	67	.	0			c.G395T						PASS	.						39.0	38.0	38.0					19																	17984984		2203	4300	6503	SO:0001583	missense	6528	exon2			GGCTCTGCGGGAC		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.395G>T	19.37:g.17984984G>T	ENSP00000222248:p.Cys132Phe	76.0	0.0	0		62.0	16.0	0.258065	NM_000453	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392224	0.25118	.	.	ENSG00000105641	ENST00000222248	D	0.86865	-2.18	4.27	4.27	0.50696	.	0.202043	0.44285	D	0.000469	T	0.76357	0.3976	N	0.17564	0.495	0.32638	N	0.521147	B	0.02656	0.0	B	0.12156	0.007	T	0.74481	-0.3651	10	0.23302	T	0.38	.	12.5512	0.56227	0.0:0.0:1.0:0.0	.	132	Q92911	SC5A5_HUMAN	F	132	ENSP00000222248:C132F	ENSP00000222248:C132F	C	+	2	0	SLC5A5	17845984	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	2.837000	0.48191	2.107000	0.64212	0.436000	0.28706	TGC	.	.	none		0.672	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
SMPDL3B	27293	hgsc.bcm.edu	37	1	28282207	28282207	+	Missense_Mutation	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:28282207G>A	ENST00000373894.3	+	6	894	c.703G>A	c.(703-705)Ggc>Agc	p.G235S	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G187S|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.G235S|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	235					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTACATTGTCGGCCACGTGCC	0.527																																					p.G235S		Atlas-SNP	.											.	SMPDL3B	54	.	0			c.G703A						PASS	.						75.0	77.0	76.0					1																	28282207		2203	4300	6503	SO:0001583	missense	27293	exon6			ATTGTCGGCCACG	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.703G>A	1.37:g.28282207G>A	ENSP00000363001:p.Gly235Ser	67.0	0.0	0		68.0	16.0	0.235294	NM_001009568	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901958	0.72754	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.22	5.22	0.72569	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.73430	2.235	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.97750	1.0214	10	0.40728	T	0.16	-37.9539	18.7635	0.91862	0.0:0.0:1.0:0.0	.	187;235;235	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	S	235;265;265;235;187;187	ENSP00000363001:G235S;ENSP00000388092:G265S;ENSP00000362995:G235S;ENSP00000449450:G187S	ENSP00000362995:G235S	G	+	1	0	SMPDL3B	28154794	1.000000	0.71417	0.977000	0.42913	0.008000	0.06430	9.756000	0.98918	2.417000	0.82017	0.462000	0.41574	GGC	.	.	none		0.527	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474	
MACF1	23499	hgsc.bcm.edu	37	1	39908411	39908411	+	Missense_Mutation	SNP	A	A	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:39908411A>G	ENST00000372915.3	+	77	18914	c.18827A>G	c.(18826-18828)cAt>cGt	p.H6276R	MACF1_ENST00000361689.2_Missense_Mutation_p.H4318R|MACF1_ENST00000539005.1_Missense_Mutation_p.H4188R|MACF1_ENST00000564288.1_Missense_Mutation_p.H6377R|MACF1_ENST00000289893.4_Missense_Mutation_p.H4820R|MACF1_ENST00000545844.1_Missense_Mutation_p.H4318R|MACF1_ENST00000567887.1_Missense_Mutation_p.H6414R|MACF1_ENST00000317713.7_Missense_Mutation_p.H4318R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6276					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTTTGGCTCATCAAGCCACA	0.398																																					p.H4318R		Atlas-SNP	.											.	MACF1	909	.	0			c.A12953G						PASS	.						51.0	49.0	50.0					1																	39908411		2203	4300	6503	SO:0001583	missense	23499	exon75			TGGCTCATCAAGC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18827A>G	1.37:g.39908411A>G	ENSP00000362006:p.His6276Arg	112.0	0.0	0		113.0	30.0	0.265487	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	23.5	4.423174	0.83559	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.50813	1.3;0.73;1.3;1.3;1.3;0.73	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.61689	0.2367	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.64145	-0.6476	10	0.72032	D	0.01	.	16.1839	0.81934	1.0:0.0:0.0:0.0	.	6276;4318	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	R	4318;6276;4318;4318;4188;4820	ENSP00000439537:H4318R;ENSP00000362006:H6276R;ENSP00000354573:H4318R;ENSP00000313438:H4318R;ENSP00000444364:H4188R;ENSP00000289893:H4820R	ENSP00000289893:H4820R	H	+	2	0	MACF1	39680998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	CAT	.	.	none		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
TPD52L2	7165	hgsc.bcm.edu	37	20	62521256	62521256	+	Silent	SNP	G	G	A	rs143876889		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:62521256G>A	ENST00000346249.4	+	7	655	c.579G>A	c.(577-579)gcG>gcA	p.A193A	TPD52L2_ENST00000358548.4_Silent_p.A187A|TPD52L2_ENST00000369927.4_Silent_p.A150A|TPD52L2_ENST00000217121.5_Silent_p.A216A|TPD52L2_ENST00000352482.4_Silent_p.A207A|TPD52L2_ENST00000351424.4_Silent_p.A196A|TPD52L2_ENST00000348257.5_Silent_p.A173A	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	193					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTTCCTCAGCGGGGAGTGGTG	0.557																																					p.R177Q		Atlas-SNP	.											.	TPD52L2	20	.	0			c.G530A						PASS	.	G	,,,,,	0,4406		0,0,2203	81.0	71.0	75.0		579,519,648,588,621,561	-10.0	0.0	20	dbSNP_134	75	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPD52L2	NM_003288.3,NM_199359.2,NM_199360.2,NM_199361.2,NM_199362.2,NM_199363.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	193/207,173/187,216/230,196/210,207/221,187/201	62521256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7165	exon6			CTCAGCGGGGAGT	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.579G>A	20.37:g.62521256G>A		55.0	0.0	0		32.0	11.0	0.34375	NM_001243895	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	CCDS13540.1																																																																																			G|1.000;A|0.000	0.000	weak		0.557	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1		
UNC80	285175	hgsc.bcm.edu	37	2	210680092	210680092	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:210680092C>T	ENST00000439458.1	+	9	1392	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	UNC80_ENST00000272845.6_Silent_p.L438L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	438					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TTCTTCAGACCTGGGCATGAA	0.388																																					p.L438L		Atlas-SNP	.											.	UNC80	280	.	0			c.C1312T						PASS	.						96.0	75.0	81.0					2																	210680092		692	1591	2283	SO:0001819	synonymous_variant	285175	exon9			TCAGACCTGGGCA	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.1312C>T	2.37:g.210680092C>T		92.0	0.0	0		97.0	17.0	0.175258	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	ENST00000439458.1	37	CCDS46504.1																																																																																			.	.	none		0.388	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
TH	7054	hgsc.bcm.edu	37	11	2189155	2189155	+	Silent	SNP	C	C	T	rs376615793		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:2189155C>T	ENST00000381178.1	-	6	696	c.678G>A	c.(676-678)tcG>tcA	p.S226S	TH_ENST00000333684.5_Silent_p.S199S|TH_ENST00000381175.1_Silent_p.S222S|TH_ENST00000352909.3_Silent_p.S195S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	226					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACACCTGGTCCGAGAAGCCCT	0.672																																					p.S226S		Atlas-SNP	.											TH,colon,carcinoma,-1,1	TH	43	1	0			c.G678A						PASS	.	C	,,	0,4388		0,0,2194	34.0	28.0	30.0		585,678,666	-7.2	0.8	11		30	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	TH	NM_000360.3,NM_199292.2,NM_199293.2	,,	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	,,	195/498,226/529,222/525	2189155	2,12982	2194	4298	6492	SO:0001819	synonymous_variant	7054	exon6			CTGGTCCGAGAAG	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.678G>A	11.37:g.2189155C>T		92.0	0.0	0		95.0	48.0	0.505263	NM_199292	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216711	0.22373	0.0	2.33E-4	ENSG00000180176	ENST00000412076	.	.	.	3.59	-7.18	0.01505	.	.	.	.	.	T	0.33614	0.0869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-27.0867	0.3619	0.00366	0.2736:0.2138:0.2712:0.2415	.	.	.	.	R	9	.	.	G	-	1	0	TH	2145731	0.000000	0.05858	0.835000	0.33067	0.819000	0.46315	-2.626000	0.00874	-1.699000	0.01416	-0.802000	0.03209	GGA	.	.	weak		0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360	
IGLL5	100423062	hgsc.bcm.edu	37	22	23230278	23230278	+	Silent	SNP	G	G	A	rs544778929	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr22:23230278G>A	ENST00000526893.1	+	1	319	c.45G>A	c.(43-45)gaG>gaA	p.E15E	IGLL5_ENST00000532223.2_Silent_p.E15E|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.E15E	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	15						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCCTGAGGAGCTGGGCCCTG	0.672													G|||	6	0.00119808	0.0023	0.0029	5008	,	,		13267	0.0		0.0	False		,,,				2504	0.001				p.E15E		Atlas-SNP	.											IGLL5,NS,lymphoid_neoplasm,0,1	IGLL5	26	1	0			c.G45A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			TGAGGAGCTGGGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.45G>A	22.37:g.23230278G>A		136.0	0.0	0		108.0	30.0	0.277778	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	
BTG2	7832	hgsc.bcm.edu	37	1	203276387	203276387	+	Silent	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:203276387C>T	ENST00000290551.4	+	2	369	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	100					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCCCAGCGAGCTGACCCTGTG	0.642																																					p.L100L		Atlas-SNP	.											.	BTG2	16	.	0			c.C298T						PASS	.						47.0	49.0	48.0					1																	203276387		2203	4300	6503	SO:0001819	synonymous_variant	7832	exon2			AGCGAGCTGACCC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.298C>T	1.37:g.203276387C>T		47.0	0.0	0		57.0	8.0	0.140351	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.642	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	
DNAH17	8632	hgsc.bcm.edu	37	17	76450728	76450728	+	Silent	SNP	G	G	A	rs148972892		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:76450728G>A	ENST00000585328.1	-	64	10339	c.10215C>T	c.(10213-10215)gaC>gaT	p.D3405D	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.D3396D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3396	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGGCCACGTCCGCGTCAT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.001	False		,,,				2504	0.0				p.D3410D		Atlas-SNP	.											.	DNAH17	347	.	0			c.C10230T						PASS	.	G		0,4406		0,0,2203	104.0	83.0	90.0		10230	-0.2	0.8	17	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DNAH17	NM_173628.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		3410/4463	76450728	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8632	exon64			GGCCACGTCCGCG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10215C>T	17.37:g.76450728G>A		42.0	0.0	0		64.0	19.0	0.296875	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|1.000;A|0.000	0.000	strong		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
OR5AP2	338675	hgsc.bcm.edu	37	11	56409003	56409003	+	Missense_Mutation	SNP	T	T	G			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:56409003T>G	ENST00000302981.1	-	1	912	c.913A>C	c.(913-915)Aag>Cag	p.K305Q	OR5AP2_ENST00000544374.1_Missense_Mutation_p.K306Q	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTTAGGGCCTTTTTTACATCC	0.343																																					p.K305Q		Atlas-SNP	.											OR5AP2,NS,carcinoma,+2,1	OR5AP2	69	1	0			c.A913C						PASS	.						76.0	75.0	75.0					11																	56409003		2201	4296	6497	SO:0001583	missense	338675	exon1			GGGCCTTTTTTAC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.913A>C	11.37:g.56409003T>G	ENSP00000303111:p.Lys305Gln	116.0	0.0	0		127.0	21.0	0.165354	NM_001002925	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.269067	0.05716	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.38722	1.12;1.12	4.94	-0.595	0.11660	.	1.447480	0.04221	N	0.333544	T	0.25419	0.0618	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22034	-1.0228	10	0.31617	T	0.26	.	9.4414	0.38670	0.0:0.4066:0.0:0.5934	.	305	Q8NGF4	O5AP2_HUMAN	Q	306;305	ENSP00000442701:K306Q;ENSP00000303111:K305Q	ENSP00000303111:K305Q	K	-	1	0	OR5AP2	56165579	0.000000	0.05858	0.029000	0.17559	0.238000	0.25445	-0.462000	0.06704	0.018000	0.15052	-0.192000	0.12808	AAG	.	.	none		0.343	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925	
CCDC181	57821	hgsc.bcm.edu	37	1	169391492	169391492	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:169391492C>T	ENST00000367806.3	-	3	329	c.177G>A	c.(175-177)atG>atA	p.M59I	CCDC181_ENST00000367805.3_Missense_Mutation_p.M59I|CCDC181_ENST00000545005.1_Missense_Mutation_p.M59I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	59						nucleus (GO:0005634)											TGGTGTGCTCCATTACTGTCT	0.373																																					p.M59I		Atlas-SNP	.											.	C1orf114	67	.	0			c.G177A						PASS	.						107.0	98.0	101.0					1																	169391492		2202	4300	6502	SO:0001583	missense	57821	exon3			GTGCTCCATTACT	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.177G>A	1.37:g.169391492C>T	ENSP00000356780:p.Met59Ile	357.0	0.0	0		441.0	87.0	0.197279	NM_021179	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384829	0.04966	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21031	2.04;2.04;2.04;2.03	5.27	-1.78	0.07957	.	1.412370	0.04011	N	0.298187	T	0.02267	0.0070	N	0.02011	-0.69	0.09310	N	0.999991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38394	-0.9663	9	0.36615	T	0.2	0.0962	6.7625	0.23548	0.0:0.1371:0.3585:0.5044	.	59;59;59	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	59	ENSP00000356779:M59I;ENSP00000356780:M59I;ENSP00000442297:M59I;ENSP00000411000:M59I	ENSP00000356779:M59I	M	-	3	0	C1orf114	167658116	0.731000	0.28111	0.094000	0.20943	0.052000	0.14988	0.854000	0.27791	-0.002000	0.14469	-0.414000	0.06135	ATG	.	.	none		0.373	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179	
PAQR9	344838	hgsc.bcm.edu	37	3	142681479	142681479	+	Missense_Mutation	SNP	C	C	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:142681479C>A	ENST00000340634.3	-	1	699	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	234						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GTACACCAGTCGGTACGGCTC	0.657																																					p.D234Y		Atlas-SNP	.											.	PAQR9	57	.	0			c.G700T						PASS	.						63.0	59.0	60.0					3																	142681479		2203	4300	6503	SO:0001583	missense	344838	exon1			ACCAGTCGGTACG	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.700G>T	3.37:g.142681479C>A	ENSP00000341564:p.Asp234Tyr	58.0	0.0	0		79.0	25.0	0.316456	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599051	0.46318	.	.	ENSG00000188582	ENST00000340634	T	0.22945	1.93	5.22	5.22	0.72569	.	0.297111	0.29745	N	0.011320	T	0.15955	0.0384	N	0.04508	-0.205	0.21499	N	0.99967	B	0.14805	0.011	B	0.13407	0.009	T	0.23797	-1.0178	10	0.51188	T	0.08	-30.7356	19.1774	0.93607	0.0:1.0:0.0:0.0	.	234	Q6ZVX9	PAQR9_HUMAN	Y	234	ENSP00000341564:D234Y	ENSP00000341564:D234Y	D	-	1	0	PAQR9	144164169	0.989000	0.36119	0.990000	0.47175	0.896000	0.52359	2.616000	0.46376	2.595000	0.87683	0.655000	0.94253	GAC	.	.	none		0.657	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
KRAS	3845	hgsc.bcm.edu	37	12	25398262	25398262	+	Missense_Mutation	SNP	C	C	A	rs121913538		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:25398262C>A	ENST00000256078.4	-	2	120	c.57G>T	c.(55-57)ttG>ttT	p.L19F	KRAS_ENST00000311936.3_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	19					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.L19F(15)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCTGTATCGTCAAGGCACTCT	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.L19F	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Atlas-SNP	.		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS_ENST00000256078,colon,carcinoma,0,22	KRAS	30930	22	15	Substitution - Missense(15)	large_intestine(10)|haematopoietic_and_lymphoid_tissue(5)	c.G57T						PASS	.						89.0	78.0	82.0					12																	25398262		2203	4300	6503	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	TATCGTCAAGGCA	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.57G>T	12.37:g.25398262C>A	ENSP00000256078:p.Leu19Phe	179.0	0.0	0		173.0	41.0	0.236994	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992040	0.74703	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.86562	-2.14;-1.3;-1.3;-1.3	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94992	0.8135	10	0.87932	D	0	.	14.0395	0.64665	0.0:0.8488:0.1512:0.0	.	19;19	P01116-2;P01116	.;RASK_HUMAN	F	19	ENSP00000308495:L19F;ENSP00000452512:L19F;ENSP00000256078:L19F;ENSP00000451856:L19F	ENSP00000256078:L19F	L	-	3	2	KRAS	25289529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.986000	0.40677	2.668000	0.90789	0.563000	0.77884	TTG	.	.	weak		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113517882	113517882	+	Missense_Mutation	SNP	C	C	T			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:113517882C>T	ENST00000284601.3	-	4	3333	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1089					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATGGTAGACAGTTATAAGA	0.348																																					p.V1089I		Atlas-SNP	.											PPP1R3A,caecum,carcinoma,+1,1	PPP1R3A	317	1	0			c.G3265A						PASS	.						84.0	86.0	86.0					7																	113517882		2202	4299	6501	SO:0001583	missense	5506	exon4			GGTAGACAGTTAT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3265G>A	7.37:g.113517882C>T	ENSP00000284601:p.Val1089Ile	92.0	0.0	0		81.0	20.0	0.246914	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782052	0.00634	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	5.85	-0.598	0.11649	.	0.641150	0.15224	N	0.273777	T	0.05410	0.0143	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.12766	T	0.61	0.3076	1.0196	0.01515	0.2055:0.2575:0.1164:0.4207	.	1089	Q16821	PPR3A_HUMAN	I	1089	ENSP00000284601:V1089I	ENSP00000284601:V1089I	V	-	1	0	PPP1R3A	113305118	0.942000	0.31987	0.951000	0.38953	0.577000	0.36160	0.348000	0.20031	-0.316000	0.08690	-0.247000	0.11927	GTC	.	.	none		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
DIP2B	57609	hgsc.bcm.edu	37	12	51126265	51126265	+	Silent	SNP	G	G	A			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:51126265G>A	ENST00000301180.5	+	32	3961	c.3927G>A	c.(3925-3927)ccG>ccA	p.P1309P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1309						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCTGTCCCCGCGGGCTGTCA	0.532																																					p.P1309P		Atlas-SNP	.											.	DIP2B	167	.	0			c.G3927A						PASS	.						88.0	79.0	82.0					12																	51126265		2203	4300	6503	SO:0001819	synonymous_variant	57609	exon32			GTCCCCGCGGGCT	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3927G>A	12.37:g.51126265G>A		57.0	0.0	0		46.0	6.0	0.130435	NM_173602	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																			.	.	none		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
