#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DNAJC16	23341	hgsc.bcm.edu	37	1	15888777	15888777	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:15888777A>T	ENST00000375847.3	+	9	1459	c.1295A>T	c.(1294-1296)gAc>gTc	p.D432V	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375838.1_Missense_Mutation_p.D432V|DNAJC16_ENST00000375849.1_Missense_Mutation_p.D432V	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	432					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGTTTGCCGACACCTTACTA	0.502																																					p.D432V		Atlas-SNP	.											.	DNAJC16	59	.	0			c.A1295T						.						137.0	121.0	126.0					1																	15888777		2203	4300	6503	SO:0001583	missense	23341	exon9			TTGCCGACACCTT	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1295A>T	chr1.hg19:g.15888777A>T	ENSP00000365007:p.Asp432Val	90.0	0.0		96.0	13.0	NM_015291	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	hg19	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804689	0.16467	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.11930	2.73;2.73;2.73	6.06	-4.85	0.03142	.	0.782547	0.12931	N	0.427343	T	0.08582	0.0213	L	0.29908	0.895	0.28278	N	0.924114	B;B	0.19200	0.026;0.034	B;B	0.22880	0.03;0.042	T	0.20371	-1.0277	10	0.48119	T	0.1	-0.975	8.3892	0.32518	0.3052:0.2033:0.4915:0.0	.	432;432	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	V	432	ENSP00000365007:D432V;ENSP00000364998:D432V;ENSP00000365009:D432V	ENSP00000364998:D432V	D	+	2	0	DNAJC16	15761364	0.239000	0.23836	0.029000	0.17559	0.059000	0.15707	0.476000	0.22180	-1.197000	0.02673	-1.844000	0.00574	GAC	.	.		0.502	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
TAS1R2	80834	hgsc.bcm.edu	37	1	19166377	19166377	+	Missense_Mutation	SNP	C	C	T	rs368636486		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:19166377C>T	ENST00000375371.3	-	6	2257	c.2236G>A	c.(2236-2238)Gcc>Acc	p.A746T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	746					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCATGTAGGCGAAGCTGAAA	0.542																																					p.A746T		Atlas-SNP	.											TAS1R2,NS,carcinoma,0,1	TAS1R2	134	.	0			c.G2236A						.	C	THR/ALA	0,4406		0,0,2203	134.0	117.0	123.0		2236	4.1	1.0	1		123	2,8598	2.2+/-6.3	0,2,4298	no	missense	TAS1R2	NM_152232.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	746/840	19166377	2,13004	2203	4300	6503	SO:0001583	missense	80834	exon6			TGTAGGCGAAGCT		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2236G>A	chr1.hg19:g.19166377C>T	ENSP00000364520:p.Ala746Thr	133.0	0.0		153.0	30.0	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580666	0.46006	0.0	2.33E-4	ENSG00000179002	ENST00000375371	D	0.93763	-3.28	5.07	4.12	0.48240	GPCR, family 3, C-terminal (2);	0.142464	0.31589	N	0.007393	D	0.96402	0.8826	M	0.85710	2.77	0.37005	D	0.895437	D	0.89917	1.0	D	0.73380	0.98	D	0.97750	1.0214	10	0.59425	D	0.04	.	12.6819	0.56926	0.165:0.835:0.0:0.0	.	746	Q8TE23	TS1R2_HUMAN	T	746	ENSP00000364520:A746T	ENSP00000364520:A746T	A	-	1	0	TAS1R2	19038964	0.048000	0.20356	0.995000	0.50966	0.262000	0.26303	0.418000	0.21230	2.363000	0.80096	0.655000	0.94253	GCC	.	.		0.542	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
EIF2B3	8891	hgsc.bcm.edu	37	1	45363027	45363027	+	Splice_Site	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:45363027C>T	ENST00000360403.2	-	6	782	c.656G>A	c.(655-657)gGg>gAg	p.G219E	EIF2B3_ENST00000372183.3_Splice_Site_p.G219E	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	219					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTTTTCTTACCCATTTTCCAT	0.363																																					p.G219E	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.G656A						.						81.0	78.0	79.0					1																	45363027		2203	4300	6503	SO:0001630	splice_region_variant	8891	exon6			TCTTACCCATTTT	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.656+1G>A	chr1.hg19:g.45363027C>T		46.0	0.0		38.0	6.0	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	hg19	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.455052|1.455052	0.26161|0.26161	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000360403;ENST00000372183|ENST00000439363	D;D|D	0.82711|0.85339	-1.64;-1.64|-1.97	5.21|5.21	-3.53|-3.53	0.04667|0.04667	.|.	0.741113|0.741113	0.13833|0.13833	N|N	0.359577|0.359577	T|T	0.55481|0.55481	0.1923|0.1923	N|N	0.00841|0.00841	-1.15|-1.15	0.26623|0.26623	N|N	0.972624|0.972624	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.0|.	T|T	0.51521|0.51521	-0.8695|-0.8695	9|7	.|.	.|.	.|.	-16.9435|-16.9435	12.8498|12.8498	0.57850|0.57850	0.0:0.7666:0.0:0.2334|0.0:0.7666:0.0:0.2334	.|.	219;219;219|.	Q9NR50-2;Q9NR50-3;Q9NR50|.	.;.;EI2BG_HUMAN|.	E|S	219|40	ENSP00000353575:G219E;ENSP00000361257:G219E|ENSP00000396985:G40S	.|.	G|G	-|-	2|1	0|0	EIF2B3|EIF2B3	45135614|45135614	1.000000|1.000000	0.71417|0.71417	0.461000|0.461000	0.27105|0.27105	0.491000|0.491000	0.33493|0.33493	0.548000|0.548000	0.23314|0.23314	-0.873000|-0.873000	0.04032|0.04032	-0.373000|-0.373000	0.07131|0.07131	GGG|GGT	.	.		0.363	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365	Missense_Mutation
NHLH2	4808	hgsc.bcm.edu	37	1	116380822	116380822	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:116380822G>A	ENST00000369506.1	-	1	5716	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	NHLH2_ENST00000320238.3_Missense_Mutation_p.P58S			Q02577	HEN2_HUMAN	nescient helix loop helix 2	58					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGCGGGTGCGGGTAGAGCGCG	0.766																																					p.P58S		Atlas-SNP	.											.	NHLH2	8	.	0			c.C172T						.						5.0	7.0	6.0					1																	116380822		1991	3932	5923	SO:0001583	missense	4808	exon2			GGTGCGGGTAGAG		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.172C>T	chr1.hg19:g.116380822G>A	ENSP00000358519:p.Pro58Ser	55.0	0.0		38.0	7.0	NM_001111061	Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	hg19	CCDS885.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058825	0.36277	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D	0.96459	-4.02;-4.02	4.49	3.58	0.41010	.	0.096213	0.42821	D	0.000656	T	0.80660	0.4665	N	0.08118	0	0.31518	N	0.662774	B	0.17465	0.022	B	0.10450	0.005	T	0.70371	-0.4890	10	0.30854	T	0.27	-31.3868	6.1241	0.20170	0.0958:0.0:0.5863:0.3179	.	58	Q02577	HEN2_HUMAN	S	58	ENSP00000322087:P58S;ENSP00000358519:P58S	ENSP00000322087:P58S	P	-	1	0	NHLH2	116182345	0.537000	0.26386	1.000000	0.80357	0.981000	0.71138	0.923000	0.28757	0.890000	0.36211	0.561000	0.74099	CCG	.	.		0.766	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599	
TDRD10	126668	hgsc.bcm.edu	37	1	154519928	154519928	+	Silent	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:154519928G>T	ENST00000368480.3	+	12	1081	c.996G>T	c.(994-996)ggG>ggT	p.G332G	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.G332G			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	332							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCAAAGGGAAAATCACTG	0.527																																					p.G332G		Atlas-SNP	.											.	TDRD10	48	.	0			c.G996T						.						184.0	150.0	162.0					1																	154519928		2203	4300	6503	SO:0001819	synonymous_variant	126668	exon12			CAAAGGGAAAATC	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.996G>T	chr1.hg19:g.154519928G>T		115.0	0.0		128.0	27.0	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	hg19	CCDS41406.1																																																																																			.	.		0.527	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
F5	2153	hgsc.bcm.edu	37	1	169505910	169505910	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:169505910T>C	ENST00000367797.3	-	14	5006	c.4805A>G	c.(4804-4806)gAt>gGt	p.D1602G	F5_ENST00000367796.3_Missense_Mutation_p.D1607G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1602	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTTCAATATCTGTTTCCCT	0.338																																					p.D1602G		Atlas-SNP	.											.	F5	301	.	0			c.A4805G						.						58.0	61.0	60.0					1																	169505910		2203	4299	6502	SO:0001583	missense	2153	exon14			TCAATATCTGTTT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4805A>G	chr1.hg19:g.169505910T>C	ENSP00000356771:p.Asp1602Gly	69.0	0.0		68.0	16.0	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003831	0.35320	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98926	-5.24;-5.24	4.45	3.29	0.37713	Cupredoxin (2);	0.588932	0.18543	N	0.138122	D	0.93772	0.8009	L	0.31926	0.97	0.33339	D	0.569544	B	0.28900	0.227	B	0.34301	0.179	D	0.89764	0.3949	9	0.41790	T	0.15	-9.4708	7.7168	0.28708	0.1874:0.0:0.0:0.8126	.	1602	P12259	FA5_HUMAN	G	1602;1607	ENSP00000356771:D1602G;ENSP00000356770:D1607G	ENSP00000356770:D1607G	D	-	2	0	F5	167772534	0.001000	0.12720	0.004000	0.12327	0.068000	0.16541	0.891000	0.28309	0.784000	0.33661	0.460000	0.39030	GAT	.	.		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
DHX9	1660	hgsc.bcm.edu	37	1	182823255	182823255	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:182823255C>G	ENST00000367549.3	+	6	678	c.568C>G	c.(568-570)Cag>Gag	p.Q190E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	190	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCAATATTTTCAGAAAGAAAA	0.383																																					p.Q190E	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.C568G						.						84.0	84.0	84.0					1																	182823255		1819	4078	5897	SO:0001583	missense	1660	exon6			TATTTTCAGAAAG	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.568C>G	chr1.hg19:g.182823255C>G	ENSP00000356520:p.Gln190Glu	189.0	0.0		238.0	36.0	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041604	0.93685	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.79554	-1.28	5.39	5.39	0.77823	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.066083	0.64402	D	0.000011	D	0.92811	0.7714	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94558	0.7760	10	0.87932	D	0	.	18.7614	0.91853	0.0:1.0:0.0:0.0	.	190	Q08211	DHX9_HUMAN	E	190	ENSP00000356520:Q190E	ENSP00000356520:Q190E	Q	+	1	0	DHX9	181089878	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.242000	0.78210	2.528000	0.85240	0.655000	0.94253	CAG	.	.		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
C1orf115	79762	hgsc.bcm.edu	37	1	220870013	220870013	+	Silent	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr1:220870013C>T	ENST00000294889.5	+	2	927	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	123						integral component of membrane (GO:0016021)		p.F123F(1)		large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGCAAGGCTTCGCTGCAGCCT	0.557																																					p.F123F		Atlas-SNP	.											C1orf115,NS,carcinoma,0,1	C1orf115	6	.	1	Substitution - coding silent(1)	lung(1)	c.C369T						.						99.0	97.0	98.0					1																	220870013		2203	4300	6503	SO:0001819	synonymous_variant	79762	exon2			AGGCTTCGCTGCA	AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.369C>T	chr1.hg19:g.220870013C>T		95.0	0.0		138.0	40.0	NM_024709	B3KRN3|D3DTB2	Silent	SNP	ENST00000294889.5	hg19	CCDS1524.1																																																																																			.	.		0.557	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090922.3	NM_024709	
ADAM17	6868	hgsc.bcm.edu	37	2	9642319	9642319	+	Missense_Mutation	SNP	C	C	A	rs375981644		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:9642319C>A	ENST00000310823.3	-	13	1813	c.1631G>T	c.(1630-1632)gGc>gTc	p.G544V		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	544	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTAGGACACGCCTTTGCAAGT	0.453																																					p.G544V		Atlas-SNP	.											.	ADAM17	61	.	0			c.G1631T						.						269.0	248.0	255.0					2																	9642319		2203	4300	6503	SO:0001583	missense	6868	exon13			GACACGCCTTTGC	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1631G>T	chr2.hg19:g.9642319C>A	ENSP00000309968:p.Gly544Val	68.0	0.0		74.0	12.0	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402862	0.83230	.	.	ENSG00000151694	ENST00000310823	T	0.10382	2.88	5.16	5.16	0.70880	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	N	0.12961	0.28	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.62382	0.901;0.901	T	0.24621	-1.0155	10	0.23302	T	0.38	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	544;544	B2RNB2;P78536	.;ADA17_HUMAN	V	544	ENSP00000309968:G544V	ENSP00000309968:G544V	G	-	2	0	ADAM17	9559770	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.690000	0.68241	2.382000	0.81193	0.462000	0.41574	GGC	.	.		0.453	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
APOB	338	hgsc.bcm.edu	37	2	21229941	21229941	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:21229941T>G	ENST00000233242.1	-	26	9926	c.9799A>C	c.(9799-9801)Atg>Ctg	p.M3267L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3267					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCCGACATCTCTATGGTG	0.473																																					p.M3267L		Atlas-SNP	.											.	APOB	761	.	0			c.A9799C						.						79.0	72.0	74.0					2																	21229941		2203	4300	6503	SO:0001583	missense	338	exon26			CCGACATCTCTAT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9799A>C	chr2.hg19:g.21229941T>G	ENSP00000233242:p.Met3267Leu	140.0	0.0		122.0	20.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	1.336	-0.595426	0.03771	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36157	1.27	4.6	3.35	0.38373	.	0.267525	0.30791	N	0.008879	T	0.28167	0.0695	L	0.52126	1.63	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.05920	-1.0856	10	0.08837	T	0.75	.	10.7634	0.46279	0.0:0.0:0.3908:0.6092	.	3267	P04114	APOB_HUMAN	L	3267	ENSP00000233242:M3267L	ENSP00000233242:M3267L	M	-	1	0	APOB	21083446	0.999000	0.42202	0.287000	0.24848	0.692000	0.40212	0.560000	0.23500	1.703000	0.51240	0.460000	0.39030	ATG	.	.		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
STON1	11037	hgsc.bcm.edu	37	2	48809324	48809324	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:48809324A>T	ENST00000406226.1	+	3	1747	c.1552A>T	c.(1552-1554)Aag>Tag	p.K518*	STON1_ENST00000404752.1_Nonsense_Mutation_p.K518*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.K518*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.K518*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.K518*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.K518*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.K518*|STON1_ENST00000309835.3_Nonsense_Mutation_p.K518*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	518	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATGCGTTTCAAGACTTTGTA	0.423																																					p.K518X		Atlas-SNP	.											.	STON1	100	.	0			c.A1552T						.						169.0	163.0	165.0					2																	48809324		2203	4300	6503	SO:0001587	stop_gained	11037	exon3			CGTTTCAAGACTT	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1552A>T	chr2.hg19:g.48809324A>T	ENSP00000384615:p.Lys518*	146.0	0.0		108.0	17.0	NM_001198595	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	ENST00000406226.1	hg19	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	40	8.121667	0.98665	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.3	5.3	0.74995	.	0.273553	0.42172	D	0.000756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4186	0.74991	1.0:0.0:0.0:0.0	.	.	.	.	X	518	.	ENSP00000310969:K518X	K	+	1	0	STON1-GTF2A1L;STON1	48662828	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	5.755000	0.68750	2.235000	0.73313	0.533000	0.62120	AAG	.	.		0.423	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
ZAP70	7535	hgsc.bcm.edu	37	2	98340506	98340506	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:98340506G>T	ENST00000264972.5	+	3	222	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	3					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGATGCCAGACCCCGCGGC	0.692																																					p.D3Y		Atlas-SNP	.											.	ZAP70	77	.	0			c.G7T						.						7.0	9.0	8.0					2																	98340506		2157	4227	6384	SO:0001583	missense	7535	exon3			ATGCCAGACCCCG	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.7G>T	chr2.hg19:g.98340506G>T	ENSP00000264972:p.Asp3Tyr	66.0	0.0		54.0	10.0	NM_001079	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489903	0.84962	.	.	ENSG00000115085	ENST00000264972	T	0.75260	-0.92	4.99	4.99	0.66335	.	0.000000	0.51477	D	0.000098	D	0.88916	0.6567	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.928	D	0.91550	0.5256	10	0.87932	D	0	.	16.1427	0.81536	0.0:0.0:1.0:0.0	.	3;3	B4E0E2;P43403	.;ZAP70_HUMAN	Y	3	ENSP00000264972:D3Y	ENSP00000264972:D3Y	D	+	1	0	ZAP70	97706938	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.314000	0.78988	2.507000	0.84556	0.585000	0.79938	GAC	.	.		0.692	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
TTN	7273	hgsc.bcm.edu	37	2	179447173	179447173	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:179447173C>T	ENST00000591111.1	-	264	61311	c.61087G>A	c.(61087-61089)Gct>Act	p.A20363T	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A13131T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A22004T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12939T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A19436T|TTN_ENST00000359218.5_Missense_Mutation_p.A13064T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20363	Fibronectin type-III 47. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTGAGCCCAGTTGGGC	0.463																																					p.A22004T		Atlas-SNP	.											.	TTN	18412	.	0			c.G66010A						.						76.0	70.0	72.0					2																	179447173		1906	4134	6040	SO:0001583	missense	7273	exon314			CTTGAGCCCAGTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61087G>A	chr2.hg19:g.179447173C>T	ENSP00000465570:p.Ala20363Thr	150.0	0.0		174.0	41.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.41	3.382043	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.86	4.97	0.65823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43590	0.1254	N	0.02658	-0.545	0.80722	D	1	P;P;P;P	0.52692	0.955;0.955;0.955;0.919	P;P;P;P	0.54889	0.763;0.763;0.763;0.686	T	0.62445	-0.6853	9	0.87932	D	0	.	16.5647	0.84576	0.1312:0.8688:0.0:0.0	.	12939;13064;13131;20363	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	19436;12939;13131;13064;12937	ENSP00000343764:A19436T;ENSP00000434586:A12939T;ENSP00000340554:A13131T;ENSP00000352154:A13064T	ENSP00000340554:A13131T	A	-	1	0	TTN	179155419	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	1.452000	0.47756	0.655000	0.94253	GCT	.	.		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	hgsc.bcm.edu	37	2	185802852	185802852	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:185802852T>G	ENST00000302277.6	+	4	3323	c.2729T>G	c.(2728-2730)gTt>gGt	p.V910G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	910							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGTCAGATGTTTCCAATGAT	0.408																																					p.V910G		Atlas-SNP	.											.	ZNF804A	322	.	0			c.T2729G						.						92.0	88.0	89.0					2																	185802852		2203	4300	6503	SO:0001583	missense	91752	exon4			CAGATGTTTCCAA	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2729T>G	chr2.hg19:g.185802852T>G	ENSP00000303252:p.Val910Gly	132.0	0.0		97.0	22.0	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	3.078	-0.189584	0.06299	.	.	ENSG00000170396	ENST00000302277	T	0.07114	3.22	5.57	1.09	0.20402	.	1.445440	0.04172	N	0.324931	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.24823	0.112	B	0.25140	0.058	T	0.37753	-0.9692	10	0.87932	D	0	-1.9062	3.3912	0.07290	0.2682:0.2907:0.0:0.441	.	910	Q7Z570	Z804A_HUMAN	G	910	ENSP00000303252:V910G	ENSP00000303252:V910G	V	+	2	0	ZNF804A	185511097	0.000000	0.05858	0.027000	0.17364	0.016000	0.09150	-0.510000	0.06328	0.721000	0.32231	0.482000	0.46254	GTT	.	.		0.408	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
SF3B1	23451	hgsc.bcm.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:198266709C>A	ENST00000335508.6	-	15	2314	c.2223G>T	c.(2221-2223)aaG>aaT	p.K741N	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343			Mis		myelodysplastic syndrome																																p.K741N		Atlas-SNP	.		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	SF3B1,NS,carcinoma,0,3	SF3B1	1038	.	2	Substitution - Missense(2)	lung(2)	c.G2223T						.						88.0	84.0	85.0					2																	198266709		2203	4300	6503	SO:0001630	splice_region_variant	23451	exon15			ATTTACCTTTCCT	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2223+1G>T	chr2.hg19:g.198266709C>A		250.0	0.0		252.0	48.0	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426756	0.83667	.	.	ENSG00000115524	ENST00000335508	T	0.66099	-0.19	5.71	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89843	0.4004	9	.	.	.	.	14.6098	0.68507	0.0:0.9299:0.0:0.0701	.	741	O75533	SF3B1_HUMAN	N	741	ENSP00000335321:K741N	.	K	-	3	2	SF3B1	197974954	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	AAG	.	.		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Missense_Mutation
AOX1	316	hgsc.bcm.edu	37	2	201457898	201457898	+	Silent	SNP	A	A	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr2:201457898A>G	ENST00000374700.2	+	2	316	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	25	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCCTGAAACAATGCTGTTGC	0.338																																					p.T25T		Atlas-SNP	.											.	AOX1	152	.	0			c.A75G						.						277.0	238.0	251.0					2																	201457898		2203	4300	6503	SO:0001819	synonymous_variant	316	exon2			TGAAACAATGCTG	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.75A>G	chr2.hg19:g.201457898A>G		65.0	0.0		95.0	16.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	hg19	CCDS33360.1																																																																																			.	.		0.338	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
CACNA1D	776	hgsc.bcm.edu	37	3	53845336	53845336	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr3:53845336T>C	ENST00000350061.5	+	48	6900	c.6389T>C	c.(6388-6390)cTa>cCa	p.L2130P	CACNA1D_ENST00000422281.2_Missense_Mutation_p.L2106P|CACNA1D_ENST00000288139.4_Missense_Mutation_p.L2150P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2130					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTATGAGCTACAGGACTTT	0.602																																					p.L2150P		Atlas-SNP	.											.	CACNA1D	324	.	0			c.T6449C						.						68.0	63.0	65.0					3																	53845336		2203	4300	6503	SO:0001583	missense	776	exon49			ATGAGCTACAGGA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6389T>C	chr3.hg19:g.53845336T>C	ENSP00000288133:p.Leu2130Pro	104.0	0.0		103.0	15.0	NM_000720	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384600	0.61845	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96265	-3.93;-3.96;-3.95;-3.95	5.56	4.37	0.52481	.	0.786356	0.11452	N	0.562709	D	0.97455	0.9167	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.65815	0.836;0.994;0.966;0.995	P;P;P;D	0.63957	0.572;0.878;0.642;0.92	D	0.94470	0.7684	10	0.33940	T	0.23	.	12.0173	0.53321	0.1296:0.0:0.0:0.8703	.	2106;1823;2130;2150	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	P	2130;2150;2106;1823	ENSP00000288133:L2130P;ENSP00000288139:L2150P;ENSP00000409174:L2106P;ENSP00000418014:L1823P	ENSP00000288139:L2150P	L	+	2	0	CACNA1D	53820376	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.466000	0.80914	1.010000	0.39314	0.533000	0.62120	CTA	.	.		0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
FOXP1	27086	hgsc.bcm.edu	37	3	71021808	71021808	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr3:71021808A>C	ENST00000318789.4	-	18	2075	c.1550T>G	c.(1549-1551)cTt>cGt	p.L517R	FOXP1_ENST00000498215.1_Missense_Mutation_p.L517R|FOXP1_ENST00000475937.1_Missense_Mutation_p.L517R|FOXP1_ENST00000484350.1_Missense_Mutation_p.L441R|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.L519R|FOXP1_ENST00000493089.1_Missense_Mutation_p.L516R	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	517					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTGAAGACTAAGATTATGACG	0.378			T	PAX5	ALL																																p.L519R		Atlas-SNP	.		Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	FOXP1	104	.	0			c.T1556G						.						479.0	387.0	418.0					3																	71021808		2203	4300	6503	SO:0001583	missense	27086	exon13			AGACTAAGATTAT	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1550T>G	chr3.hg19:g.71021808A>C	ENSP00000318902:p.Leu517Arg	110.0	0.0		70.0	9.0	NM_001244815	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	hg19	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579940	0.65992	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99642	4.675	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.999	D	0.97377	0.9980	10	0.87932	D	0	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	516;516;441;517	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	R	517;329;517;413;519;516;517;441	ENSP00000318902:L517R;ENSP00000419393:L517R;ENSP00000418225:L413R;ENSP00000420736:L519R;ENSP00000418524:L516R;ENSP00000418102:L517R;ENSP00000417857:L441R	ENSP00000318902:L517R	L	-	2	0	FOXP1	71104498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.343000	0.79666	0.533000	0.62120	CTT	.	.		0.378	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
FSTL5	56884	hgsc.bcm.edu	37	4	162577513	162577513	+	Silent	SNP	A	A	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr4:162577513A>G	ENST00000306100.5	-	7	1297	c.861T>C	c.(859-861)atT>atC	p.I287I	FSTL5_ENST00000427802.2_Silent_p.I286I|FSTL5_ENST00000536695.1_Silent_p.I286I|FSTL5_ENST00000379164.4_Silent_p.I286I|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	287	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAGAATAATATTGTTCC	0.348																																					p.I287I		Atlas-SNP	.											.	FSTL5	207	.	0			c.T861C						.						51.0	52.0	52.0					4																	162577513		2203	4300	6503	SO:0001819	synonymous_variant	56884	exon7			TAGAATAATATTG	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.861T>C	chr4.hg19:g.162577513A>G		61.0	0.0		52.0	8.0	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	hg19	CCDS3802.1																																																																																			.	.		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5190154	5190154	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:5190154T>C	ENST00000274181.7	+	7	1256	c.1118T>C	c.(1117-1119)aTg>aCg	p.M373T	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M373T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCTGGATTGATGGGGAAAGAT	0.527																																					p.M373T		Atlas-SNP	.											.	ADAMTS16	543	.	0			c.T1118C						.						144.0	142.0	142.0					5																	5190154		2057	4198	6255	SO:0001583	missense	170690	exon7			GATTGATGGGGAA	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1118T>C	chr5.hg19:g.5190154T>C	ENSP00000274181:p.Met373Thr	93.0	0.0		93.0	22.0	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	8.970	0.972698	0.18736	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63255	-0.03;-0.03	5.37	1.63	0.23807	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.438058	0.25146	N	0.032784	T	0.35595	0.0937	N	0.11560	0.145	0.29594	N	0.848203	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.003;0.002;0.006	T	0.16837	-1.0389	10	0.22109	T	0.4	.	6.1054	0.20071	0.0:0.1493:0.1478:0.7029	.	373;373;373	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	T	373	ENSP00000274181:M373T;ENSP00000421631:M373T	ENSP00000274181:M373T	M	+	2	0	ADAMTS16	5243154	0.993000	0.37304	0.952000	0.39060	0.953000	0.61014	0.511000	0.22739	0.040000	0.15660	-0.340000	0.08031	ATG	.	.		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5190170	5190170	+	Silent	SNP	T	T	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:5190170T>A	ENST00000274181.7	+	7	1272	c.1134T>A	c.(1132-1134)acT>acA	p.T378T	ADAMTS16_ENST00000511368.1_Silent_p.T378T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGATGGGACTCGTCATGACC	0.517																																					p.T378T		Atlas-SNP	.											.	ADAMTS16	543	.	0			c.T1134A						.						156.0	154.0	155.0					5																	5190170		2070	4209	6279	SO:0001819	synonymous_variant	170690	exon7			TGGGACTCGTCAT	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1134T>A	chr5.hg19:g.5190170T>A		85.0	0.0		95.0	23.0	NM_139056	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	hg19	CCDS43299.1																																																																																			.	.		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
KIF2A	3796	hgsc.bcm.edu	37	5	61681317	61681317	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:61681317T>A	ENST00000401507.3	+	20	2353	c.2042T>A	c.(2041-2043)gTg>gAg	p.V681E	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.V719E|KIF2A_ENST00000506857.1_Missense_Mutation_p.V635E|KIF2A_ENST00000381103.2_Missense_Mutation_p.V661E	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	681					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAAGATAAAGTGAAATCTTTC	0.413																																					p.V719E		Atlas-SNP	.											.	KIF2A	69	.	0			c.T2156A						.						48.0	46.0	46.0					5																	61681317		2203	4299	6502	SO:0001583	missense	3796	exon21			ATAAAGTGAAATC	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2042T>A	chr5.hg19:g.61681317T>A	ENSP00000385622:p.Val681Glu	84.0	0.0		113.0	28.0	NM_001098511	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	hg19	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919950	0.73098	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.76578	-0.78;-0.78;-1.03;-0.78	5.88	5.88	0.94601	.	0.124926	0.52532	D	0.000075	D	0.84556	0.5498	L	0.48642	1.525	0.80722	D	1	P;D;D;D	0.76494	0.868;0.959;0.999;0.996	P;P;D;D	0.71184	0.677;0.828;0.972;0.943	D	0.86032	0.1514	10	0.87932	D	0	.	16.3015	0.82820	0.0:0.0:0.0:1.0	.	719;719;681;661	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	E	681;661;719;635	ENSP00000385622:V681E;ENSP00000370493:V661E;ENSP00000385000:V719E;ENSP00000423772:V635E	ENSP00000370493:V661E	V	+	2	0	KIF2A	61717074	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.606000	0.82863	2.239000	0.73571	0.533000	0.62120	GTG	.	.		0.413	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	
SPZ1	84654	hgsc.bcm.edu	37	5	79617277	79617277	+	Missense_Mutation	SNP	G	G	A	rs541182711		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:79617277G>A	ENST00000296739.4	+	1	1488	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	415					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATTCATGTTGCAAGAAAAGC	0.368																																					p.A415T		Atlas-SNP	.											.	SPZ1	60	.	0			c.G1243A						.						62.0	61.0	61.0					5																	79617277		1822	4078	5900	SO:0001583	missense	84654	exon1			CATGTTGCAAGAA		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1243G>A	chr5.hg19:g.79617277G>A	ENSP00000369611:p.Ala415Thr	161.0	0.0		193.0	22.0	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	hg19	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916270	0.52546	.	.	ENSG00000164299	ENST00000296739	T	0.52754	0.65	4.07	3.18	0.36537	.	0.150029	0.31358	N	0.007785	T	0.49081	0.1536	L	0.55213	1.73	0.19575	N	0.999964	D	0.54964	0.969	P	0.53450	0.726	T	0.40021	-0.9585	10	0.62326	D	0.03	-4.3425	4.9724	0.14123	0.1062:0.0:0.6656:0.2282	.	415	Q9BXG8	SPZ1_HUMAN	T	415	ENSP00000369611:A415T	ENSP00000369611:A415T	A	+	1	0	SPZ1	79653033	0.796000	0.28864	0.210000	0.23637	0.016000	0.09150	1.691000	0.37721	1.263000	0.44181	0.557000	0.71058	GCA	.	.		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
FAM174A	345757	hgsc.bcm.edu	37	5	99871445	99871445	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:99871445G>A	ENST00000312637.4	+	1	437	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	71						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCGTGGTCTGGCTGAAGCTGC	0.721																																					p.A71T		Atlas-SNP	.											.	FAM174A	13	.	0			c.G211A						.						9.0	13.0	12.0					5																	99871445		2160	4237	6397	SO:0001583	missense	345757	exon1			GGTCTGGCTGAAG	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.211G>A	chr5.hg19:g.99871445G>A	ENSP00000307954:p.Ala71Thr	39.0	0.0		79.0	20.0	NM_198507	A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	hg19	CCDS4090.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406295	0.25378	.	.	ENSG00000174132	ENST00000312637	T	0.46819	0.86	4.7	-1.31	0.09230	.	0.253589	0.20785	N	0.085723	T	0.29158	0.0725	L	0.36672	1.1	0.09310	N	1	B	0.27882	0.192	B	0.32342	0.144	T	0.10636	-1.0621	9	.	.	.	0.1082	2.2351	0.04006	0.0962:0.2806:0.2845:0.3387	.	71	Q8TBP5	F174A_HUMAN	T	71	ENSP00000307954:A71T	.	A	+	1	0	FAM174A	99899344	0.004000	0.15560	0.000000	0.03702	0.228000	0.25075	-0.207000	0.09384	-0.076000	0.12775	0.557000	0.71058	GCT	.	.		0.721	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507	
WDR36	134430	hgsc.bcm.edu	37	5	110445992	110445992	+	Silent	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:110445992C>T	ENST00000513710.2	+	13	1603	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	WDR36_ENST00000505303.1_Silent_p.G477G|WDR36_ENST00000506538.2_Silent_p.G533G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	533					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)		GAAGTTTTGGCAAGGATCAAG	0.358																																					p.G533G		Atlas-SNP	.											.	WDR36	111	.	0			c.C1599T						.						173.0	167.0	169.0					5																	110445992		2202	4300	6502	SO:0001819	synonymous_variant	134430	exon13			TTTTGGCAAGGAT	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.1599C>T	chr5.hg19:g.110445992C>T		97.0	0.0		105.0	28.0	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	hg19	CCDS4102.1																																																																																			.	.		0.358	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
YTHDC2	64848	hgsc.bcm.edu	37	5	112899767	112899767	+	Missense_Mutation	SNP	G	G	T	rs199656628		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:112899767G>T	ENST00000161863.4	+	20	2867	c.2654G>T	c.(2653-2655)tGt>tTt	p.C885F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	885					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCTATGCTTTGTAGGAAACGT	0.438																																					p.C885F		Atlas-SNP	.											.	YTHDC2	118	.	0			c.G2654T						.						131.0	130.0	130.0					5																	112899767		2202	4300	6502	SO:0001583	missense	64848	exon20			TGCTTTGTAGGAA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2654G>T	chr5.hg19:g.112899767G>T	ENSP00000161863:p.Cys885Phe	86.0	0.0		81.0	4.0	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	hg19	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865121	0.51482	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.28895	1.59	5.08	4.15	0.48705	Helicase-associated domain (2);	0.106535	0.64402	D	0.000004	T	0.24509	0.0594	L	0.35341	1.055	0.80722	D	1	B	0.22211	0.066	B	0.21360	0.034	T	0.04065	-1.0980	10	0.29301	T	0.29	.	15.275	0.73734	0.0:0.1406:0.8594:0.0	.	885	Q9H6S0	YTDC2_HUMAN	F	885;795	ENSP00000161863:C885F	ENSP00000161863:C885F	C	+	2	0	YTHDC2	112927666	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.529000	0.67135	2.529000	0.85273	0.655000	0.94253	TGT	.	.		0.438	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
IK	3550	hgsc.bcm.edu	37	5	140027509	140027509	+	Splice_Site	SNP	A	A	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:140027509A>T	ENST00000417647.2	+	1	155	c.16A>T	c.(16-18)Agt>Tgt	p.S6C	NDUFA2_ENST00000512088.1_5'Flank|MIR3655_ENST00000581765.1_RNA|NDUFA2_ENST00000510680.1_5'Flank|NDUFA2_ENST00000252102.4_5'Flank	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	6					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCGAGATAGTAAGGCTCA	0.522																																					p.S6C		Atlas-SNP	.											.	IK	46	.	0			c.A16T						.						157.0	169.0	165.0					5																	140027509		2129	4234	6363	SO:0001630	splice_region_variant	3550	exon1			CGAGATAGTAAGG	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.16+1A>T	chr5.hg19:g.140027509A>T		133.0	0.0		165.0	19.0	NM_006083	Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	hg19	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958774	0.92726	.	.	ENSG00000113141	ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.37376	0.1001	N	0.19112	0.55	0.53005	D	0.999962	B;P	0.39131	0.051;0.661	B;B	0.33042	0.037;0.157	T	0.40440	-0.9563	8	0.66056	D	0.02	.	14.0995	0.65046	1.0:0.0:0.0:0.0	.	6;6	Q9UK43;Q13123	.;RED_HUMAN	C	6	.	ENSP00000261812:S6C	S	+	1	0	IK	140007693	0.997000	0.39634	1.000000	0.80357	0.720000	0.41350	3.567000	0.53813	2.317000	0.78254	0.459000	0.35465	AGT	.	.		0.522	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Missense_Mutation
PCDHA3	56145	hgsc.bcm.edu	37	5	140181355	140181355	+	Silent	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:140181355C>T	ENST00000522353.2	+	1	573	c.573C>T	c.(571-573)tcC>tcT	p.S191S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S191S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	191	Cadherin 2. {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(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTAAATCCCTTGGACTCG	0.368																																					p.S191S		Atlas-SNP	.											.	PCDHA3	396	.	0			c.C573T						.						60.0	63.0	62.0					5																	140181355		2203	4300	6503	SO:0001819	synonymous_variant	56145	exon1			TAAATCCCTTGGA	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.573C>T	chr5.hg19:g.140181355C>T		118.0	0.0		159.0	35.0	NM_031497	O75286	Silent	SNP	ENST00000522353.2	hg19	CCDS54915.1																																																																																			.	.		0.368	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA12	56137	hgsc.bcm.edu	37	5	140255556	140255556	+	Missense_Mutation	SNP	C	C	A	rs17844352		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr5:140255556C>A	ENST00000398631.2	+	1	499	c.499C>A	c.(499-501)Ctt>Att	p.L167I	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAACTCTCTTTTGACCTA	0.378																																					p.L167I	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											PCDHA12,right_upper_lobe,carcinoma,0,1	PCDHA12	196	.	0			c.C499A						.						50.0	58.0	55.0					5																	140255556		2138	4270	6408	SO:0001583	missense	56137	exon1			AACTCTCTTTTGA	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.499C>A	chr5.hg19:g.140255556C>A	ENSP00000381628:p.Leu167Ile	135.0	0.0		200.0	50.0	NM_018903	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	hg19	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623559	0.14193	.	.	ENSG00000251664	ENST00000398631	T	0.52057	0.68	5.07	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37320	0.0999	L	0.37466	1.105	0.09310	N	1	B;B	0.22080	0.042;0.064	B;B	0.34991	0.193;0.033	T	0.42498	-0.9448	9	0.45353	T	0.12	.	2.0818	0.03636	0.2761:0.4386:0.1341:0.1511	.	167;167	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	167	ENSP00000381628:L167I	ENSP00000381628:L167I	L	+	1	0	PCDHA12	140235740	0.000000	0.05858	0.005000	0.12908	0.819000	0.46315	-1.784000	0.01769	0.142000	0.18901	0.591000	0.81541	CTT	.	.		0.378	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
DST	667	hgsc.bcm.edu	37	6	56480793	56480793	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:56480793T>G	ENST00000370765.6	-	24	7579	c.7472A>C	c.(7471-7473)gAt>gCt	p.D2491A	DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1787					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)			AGTAAGAGGATCAATTATGCC	0.498																																					p.D2491A		Atlas-SNP	.											.	DST	1427	.	0			c.A7472C						.						71.0	77.0	75.0					6																	56480793		2203	4300	6503	SO:0001583	missense	667	exon24			AGAGGATCAATTA	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.7472A>C	chr6.hg19:g.56480793T>G	ENSP00000359801:p.Asp2491Ala	118.0	0.0		80.0	22.0	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	hg19	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870331	0.51588	.	.	ENSG00000151914	ENST00000370765	D	0.83591	-1.74	5.94	5.94	0.96194	.	.	.	.	.	D	0.90154	0.6923	.	.	.	0.19775	N	0.999953	D	0.89917	1.0	D	0.97110	1.0	D	0.91579	0.5277	7	0.87932	D	0	.	16.3939	0.83550	0.0:0.0:0.0:1.0	.	2491	Q03001-3	.	A	2491	ENSP00000359801:D2491A	ENSP00000359801:D2491A	D	-	2	0	DST	56588752	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	8.040000	0.89188	2.276000	0.75962	0.455000	0.32223	GAT	.	.		0.498	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
EYS	346007	hgsc.bcm.edu	37	6	66200596	66200596	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:66200596C>G	ENST00000370621.3	-	5	1279	c.753G>C	c.(751-753)aaG>aaC	p.K251N	EYS_ENST00000370616.2_Missense_Mutation_p.K251N|EYS_ENST00000342421.5_Missense_Mutation_p.K251N|EYS_ENST00000393380.2_Missense_Mutation_p.K251N|EYS_ENST00000370618.3_Missense_Mutation_p.K251N|EYS_ENST00000503581.1_Missense_Mutation_p.K251N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	251	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGAGCAATTCTTTCCTATAA	0.299																																					p.K251N		Atlas-SNP	.											EYS_ENST00000370621,NS,carcinoma,0,4	EYS	527	.	0			c.G753C						.						58.0	55.0	56.0					6																	66200596		2203	4297	6500	SO:0001583	missense	346007	exon5			GCAATTCTTTCCT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.753G>C	chr6.hg19:g.66200596C>G	ENSP00000359655:p.Lys251Asn	436.0	0.0		415.0	80.0	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	hg19		.	.	.	.	.	.	.	.	.	.	C	1.220	-0.627119	0.03610	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	4.22	1.83	0.25207	.	.	.	.	.	T	0.75657	0.3879	L	0.53249	1.67	0.20489	N	0.999897	P;P;P	0.48998	0.815;0.899;0.918	P;P;P	0.49853	0.49;0.49;0.624	T	0.65022	-0.6269	9	0.18710	T	0.47	.	6.95	0.24540	0.0:0.1602:0.0:0.8398	.	251;251;251	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	251	ENSP00000424243:K251N;ENSP00000359655:K251N;ENSP00000359650:K251N;ENSP00000377042:K251N;ENSP00000341818:K251N;ENSP00000359652:K251N	ENSP00000341818:K251N	K	-	3	2	EYS	66257317	0.952000	0.32445	0.146000	0.22360	0.047000	0.14425	0.600000	0.24104	0.166000	0.19597	-0.251000	0.11542	AAG	.	.		0.299	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
SHPRH	257218	hgsc.bcm.edu	37	6	146276072	146276072	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:146276072T>G	ENST00000367505.2	-	2	651	c.387A>C	c.(385-387)ttA>ttC	p.L129F	SHPRH_ENST00000438092.2_Missense_Mutation_p.L129F|SHPRH_ENST00000275233.7_Missense_Mutation_p.L129F|SHPRH_ENST00000367503.3_Missense_Mutation_p.L129F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	129					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATTTTCAATTAAACTCTGTG	0.333																																					p.L129F		Atlas-SNP	.											.	SHPRH	169	.	0			c.A387C						.						63.0	59.0	60.0					6																	146276072		1811	4067	5878	SO:0001583	missense	257218	exon2			TTCAATTAAACTC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.387A>C	chr6.hg19:g.146276072T>G	ENSP00000356475:p.Leu129Phe	136.0	0.0		103.0	20.0	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702115	0.48307	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.66	5.66	0.87406	.	0.264260	0.27782	N	0.017870	T	0.58206	0.2106	L	0.54323	1.7	0.27666	N	0.946916	P;P	0.50443	0.893;0.935	P;P	0.51266	0.463;0.664	T	0.59643	-0.7416	10	0.59425	D	0.04	-12.6637	11.0328	0.47783	0.1387:0.0:0.0:0.8612	.	129;129	Q149N8;Q149N8-4	SHPRH_HUMAN;.	F	129	ENSP00000356475:L129F;ENSP00000356473:L129F;ENSP00000412797:L129F;ENSP00000275233:L129F	ENSP00000275233:L129F	L	-	3	2	SHPRH	146317765	0.473000	0.25878	0.952000	0.39060	0.626000	0.37791	1.052000	0.30429	2.158000	0.67659	0.533000	0.62120	TTA	.	.		0.333	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SYNE1	23345	hgsc.bcm.edu	37	6	152793449	152793449	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:152793449C>A	ENST00000367255.5	-	15	2051	c.1450G>T	c.(1450-1452)Gac>Tac	p.D484Y	SYNE1_ENST00000367248.3_Missense_Mutation_p.D474Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D484Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D491Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.D484Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.D484Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D491Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.D51Y|SYNE1_ENST00000466159.2_Missense_Mutation_p.D484Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D491Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	484					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGGCCATGTCCTCTAATTGA	0.398										HNSCC(10;0.0054)																											p.D491Y		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G1471T						.						125.0	117.0	120.0					6																	152793449		2203	4300	6503	SO:0001583	missense	23345	exon15			CCATGTCCTCTAA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1450G>T	chr6.hg19:g.152793449C>A	ENSP00000356224:p.Asp484Tyr	105.0	0.0		105.0	20.0	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289987	0.80914	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;T;D;D	0.91792	0.5;0.49;0.41;0.49;0.64;-2.31;-2.48;-2.45;2.02;-2.69;-2.91	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000006	D	0.95398	0.8506	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0;1.0	D	0.94878	0.8036	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	467;484;484;51;484;491	B3W695;Q8NF91;F5H4Q0;F5H422;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Y	484;491;484;491;491;484;474;484;51;484;467	ENSP00000356224:D484Y;ENSP00000396024:D491Y;ENSP00000265368:D484Y;ENSP00000390975:D491Y;ENSP00000341887:D491Y;ENSP00000356222:D484Y;ENSP00000356217:D474Y;ENSP00000414510:D484Y;ENSP00000438508:D51Y;ENSP00000446021:D484Y;ENSP00000441264:D467Y	ENSP00000265368:D484Y	D	-	1	0	SYNE1	152835142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAC	.	.		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
C6orf118	168090	hgsc.bcm.edu	37	6	165715430	165715430	+	Silent	SNP	C	C	A	rs202048007		TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:165715430C>A	ENST00000230301.8	-	2	401	c.381G>T	c.(379-381)ccG>ccT	p.P127P	C6orf118_ENST00000543069.1_Silent_p.P23P	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	127										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACCTGAACAGCGGGGTGTCCT	0.617																																					p.P127P		Atlas-SNP	.											.	C6orf118	116	.	0			c.G381T						.						67.0	72.0	71.0					6																	165715430		2203	4300	6503	SO:0001819	synonymous_variant	168090	exon2			GAACAGCGGGGTG		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.381G>T	chr6.hg19:g.165715430C>A		65.0	0.0		48.0	9.0	NM_144980	Q8TC11	Silent	SNP	ENST00000230301.8	hg19	CCDS5288.1																																																																																			.	C|0.973;T|0.027		0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
EPDR1	54749	hgsc.bcm.edu	37	7	37960698	37960698	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr7:37960698G>A	ENST00000199448.4	+	1	536	c.157G>A	c.(157-159)Gtt>Att	p.V53I	EPDR1_ENST00000559325.1_Missense_Mutation_p.V173I|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_Missense_Mutation_p.V53I	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	53					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGGGCGCCAGGTTATGTACCA	0.726																																					p.V53I		Atlas-SNP	.											.	EPDR1	48	.	0			c.G157A						.						7.0	8.0	8.0					7																	37960698		2092	4150	6242	SO:0001583	missense	54749	exon1			CGCCAGGTTATGT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.157G>A	chr7.hg19:g.37960698G>A	ENSP00000199448:p.Val53Ile	52.0	0.0		42.0	9.0	NM_001242946	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	hg19	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768394	0.90020	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	4.04	0.47022	.	0.125588	0.53938	D	0.000060	T	0.61974	0.2390	L	0.61218	1.895	0.80722	D	1	P	0.52170	0.951	P	0.49799	0.622	T	0.65014	-0.6271	9	0.45353	T	0.12	-17.2681	13.5461	0.61705	0.0:0.0:1.0:0.0	.	173	A4D1W8	.	I	173;147	.	ENSP00000199448:V173I	V	+	1	0	EPDR1	37927223	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	7.900000	0.87376	2.227000	0.72691	0.313000	0.20887	GTT	.	.		0.726	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
CSMD3	114788	hgsc.bcm.edu	37	8	113363436	113363436	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr8:113363436C>A	ENST00000297405.5	-	40	6537	c.6293G>T	c.(6292-6294)aGa>aTa	p.R2098I	CSMD3_ENST00000455883.2_Missense_Mutation_p.R1994I|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2028I|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2058I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2098	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCCATCTTCTTACAGGTCC	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R2098I		Atlas-SNP	.											.	CSMD3	2325	.	0			c.G6293T						.						121.0	125.0	123.0					8																	113363436		2203	4289	6492	SO:0001583	missense	114788	exon40			CATCTTCTTACAG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6293G>T	chr8.hg19:g.113363436C>A	ENSP00000297405:p.Arg2098Ile	125.0	0.0		193.0	13.0	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888311	0.91814	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.47	4.47	0.54385	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.999;0.98;1.0	D;D;D	0.97110	0.999;0.992;1.0	T	0.80589	-0.1315	10	0.23302	T	0.38	.	17.2721	0.87105	0.0:1.0:0.0:0.0	.	1994;2098;2058	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2058;2098;1368;1994;2028	ENSP00000345799:R2058I;ENSP00000297405:R2098I;ENSP00000341558:R1368I;ENSP00000412263:R1994I;ENSP00000343124:R2028I	ENSP00000297405:R2098I	R	-	2	0	CSMD3	113432612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.909000	0.69923	2.457000	0.83068	0.650000	0.86243	AGA	.	.		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113697827	113697827	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr8:113697827T>C	ENST00000297405.5	-	15	2534	c.2290A>G	c.(2290-2292)Aat>Gat	p.N764D	CSMD3_ENST00000455883.2_Missense_Mutation_p.N660D|CSMD3_ENST00000352409.3_Missense_Mutation_p.N764D|CSMD3_ENST00000343508.3_Missense_Mutation_p.N724D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	764	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAAAGTCATTGAAAGAAAGA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.N764D		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A2290G						.						101.0	107.0	105.0					8																	113697827		2203	4300	6503	SO:0001583	missense	114788	exon15			AGTCATTGAAAGA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2290A>G	chr8.hg19:g.113697827T>C	ENSP00000297405:p.Asn764Asp	101.0	0.0		154.0	23.0	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662811	0.47572	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.96	5.96	0.96718	CUB (5);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.33245	0.995	0.33222	D	0.554789	D;D;D	0.76494	0.973;0.999;0.997	D;D;D	0.87578	0.98;0.998;0.984	T	0.21381	-1.0247	10	0.16420	T	0.52	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	660;764;724	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	724;764;104;660;764	ENSP00000345799:N724D;ENSP00000297405:N764D;ENSP00000341558:N104D;ENSP00000412263:N660D;ENSP00000343124:N764D	ENSP00000297405:N764D	N	-	1	0	CSMD3	113767003	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.186000	0.72026	2.279000	0.76181	0.533000	0.62120	AAT	.	.		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TG	7038	hgsc.bcm.edu	37	8	133941375	133941375	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr8:133941375C>A	ENST00000220616.4	+	23	4794	c.4754C>A	c.(4753-4755)gCt>gAt	p.A1585D	TG_ENST00000377869.1_Missense_Mutation_p.A1528D|TG_ENST00000542445.1_Missense_Mutation_p.A19D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1585					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACGCCAATGCTCCTGTGGCT	0.463																																					p.A1585D		Atlas-SNP	.											.	TG	416	.	0			c.C4754A						.						142.0	121.0	128.0					8																	133941375		2203	4300	6503	SO:0001583	missense	7038	exon23			CCAATGCTCCTGT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4754C>A	chr8.hg19:g.133941375C>A	ENSP00000220616:p.Ala1585Asp	87.0	0.0		145.0	13.0	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.198|0.198	-1.046980|-1.046980	0.01997|0.01997	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.5|5.5	-1.08|-1.08	0.09936|0.09936	.|.	1.845860|.	0.02581|.	N|.	0.098887|.	T|.	0.14313|.	0.0346|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.09377|.	0.004;0.001|.	T|.	0.26467|.	-1.0102|.	10|.	0.06757|.	T|.	0.87|.	.|.	3.7294|3.7294	0.08487|0.08487	0.2064:0.3661:0.0:0.4275|0.2064:0.3661:0.0:0.4275	.|.	19;1585|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	D|X	1528;391;1585;19|104	ENSP00000367100:A1528D;ENSP00000220616:A1585D;ENSP00000441693:A19D|.	ENSP00000220616:A1585D|.	A|C	+|+	2|3	0|2	TG|TG	134010557|134010557	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.064000|0.064000	0.14437|0.14437	0.015000|0.015000	0.14971|0.14971	-0.150000|-0.150000	0.13652|0.13652	GCT|TGC	.	.		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
SCRIB	23513	hgsc.bcm.edu	37	8	144887556	144887556	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr8:144887556G>A	ENST00000320476.3	-	19	2402	c.2396C>T	c.(2395-2397)gCg>gTg	p.A799V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A718V|SCRIB_ENST00000356994.2_Missense_Mutation_p.A799V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	799	Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCCCGGAGCGCCTCCACGGC	0.701																																					p.A799V	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											.	SCRIB	192	.	0			c.C2396T						.						9.0	10.0	10.0					8																	144887556		2160	4236	6396	SO:0001583	missense	23513	exon19			CGGAGCGCCTCCA	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2396C>T	chr8.hg19:g.144887556G>A	ENSP00000322938:p.Ala799Val	30.0	0.0		55.0	9.0	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336986	0.60963	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37915	2.35;2.35;2.35;1.17	4.37	4.37	0.52481	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.47021	0.1423	L	0.42008	1.315	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.976;0.999	T	0.35500	-0.9786	9	0.05620	T	0.96	.	15.9021	0.79387	0.0:0.0:1.0:0.0	.	799;799	Q14160;Q14160-3	SCRIB_HUMAN;.	V	799;799;718;168;96	ENSP00000349486:A799V;ENSP00000322938:A799V;ENSP00000366756:A718V;ENSP00000433546:A96V	ENSP00000322938:A799V	A	-	2	0	SCRIB	144959544	1.000000	0.71417	0.873000	0.34254	0.285000	0.27093	9.133000	0.94460	1.962000	0.57031	0.563000	0.77884	GCG	.	.		0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
FOCAD	54914	hgsc.bcm.edu	37	9	20821034	20821034	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr9:20821034C>G	ENST00000380249.1	+	16	2121	c.1757C>G	c.(1756-1758)gCa>gGa	p.A586G	FOCAD_ENST00000605086.1_Missense_Mutation_p.A22G|FOCAD_ENST00000338382.6_Missense_Mutation_p.A586G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	586						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACTGATTGCAAAAGCAGCA	0.378																																					p.A586G		Atlas-SNP	.											.	.	.	.	0			c.C1757G						.						189.0	176.0	180.0					9																	20821034		2203	4300	6503	SO:0001583	missense	54914	exon16			TGATTGCAAAAGC	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1757C>G	chr9.hg19:g.20821034C>G	ENSP00000369599:p.Ala586Gly	67.0	0.0		74.0	15.0	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	hg19	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637272	0.87760	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22539	1.95;1.95	5.46	5.46	0.80206	Domain of unknown function DUF3730 (1);	0.099908	0.64402	D	0.000002	T	0.45935	0.1367	M	0.74881	2.28	0.80722	D	1	D	0.61080	0.989	P	0.59357	0.856	T	0.44050	-0.9353	10	0.66056	D	0.02	-21.3824	19.3768	0.94514	0.0:1.0:0.0:0.0	.	586	Q5VW36	K1797_HUMAN	G	586	ENSP00000369599:A586G;ENSP00000344307:A586G	ENSP00000344307:A586G	A	+	2	0	KIAA1797	20811034	1.000000	0.71417	0.376000	0.26042	0.977000	0.68977	6.253000	0.72453	2.584000	0.87258	0.456000	0.33151	GCA	.	.		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
WNK2	65268	hgsc.bcm.edu	37	9	96061396	96061396	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr9:96061396G>A	ENST00000297954.4	+	25	6079	c.6079G>A	c.(6079-6081)Gcc>Acc	p.A2027T	WNK2_ENST00000427277.2_Missense_Mutation_p.A1602T|WNK2_ENST00000356055.3_Splice_Site|WNK2_ENST00000395477.2_Missense_Mutation_p.A1990T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1639T|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2027					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TAAGGACCCTGCCCAAGCCAG	0.706																																					p.A1990T		Atlas-SNP	.											.	WNK2	277	.	0			c.G5968A						.						24.0	24.0	24.0					9																	96061396		2196	4292	6488	SO:0001583	missense	65268	exon24			GACCCTGCCCAAG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6079G>A	chr9.hg19:g.96061396G>A	ENSP00000297954:p.Ala2027Thr	88.0	0.0		69.0	14.0	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.62|16.62	3.175297|3.175297	0.57692|0.57692	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000356055|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.69175	.|-0.38;-0.38;0.22;0.21	5.54|5.54	1.63|1.63	0.23807|0.23807	.|.	.|0.353172	.|0.30142	.|N	.|0.010320	.|T	.|0.62732	.|0.2452	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|B;D;B;D	.|0.69078	.|0.335;0.997;0.084;0.996	.|B;P;B;P	.|0.62382	.|0.19;0.901;0.022;0.867	.|T	.|0.57165	.|-0.7858	.|10	.|0.13470	.|T	.|0.59	.|.	6.8504|6.8504	0.24012|0.24012	0.3324:0.1216:0.546:0.0|0.3324:0.1216:0.546:0.0	.|.	.|1990;1985;1990;2027	.|Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	.|T	-1|2027;1990;1639;1602	.|ENSP00000297954:A2027T;ENSP00000378860:A1990T;ENSP00000297876:A1639T;ENSP00000411181:A1602T	.|ENSP00000297954:A2027T	.|A	+|+	.|1	.|0	WNK2|WNK2	95101217|95101217	0.160000|0.160000	0.22878|0.22878	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	0.854000|0.854000	0.27791|0.27791	0.310000|0.310000	0.22990|0.22990	0.655000|0.655000	0.94253|0.94253	.|GCC	.	.		0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
FBXW5	54461	hgsc.bcm.edu	37	9	139837919	139837919	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr9:139837919T>C	ENST00000325285.3	-	3	312	c.233A>G	c.(232-234)gAc>gGc	p.D78G	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	78					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGCACCGTGTCATACAGCCG	0.657																																					p.D78G		Atlas-SNP	.											.	FBXW5	36	.	0			c.A233G						.						63.0	45.0	52.0					9																	139837919		2199	4299	6498	SO:0001583	missense	54461	exon3			ACCGTGTCATACA	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.233A>G	chr9.hg19:g.139837919T>C	ENSP00000313034:p.Asp78Gly	89.0	0.0		83.0	15.0	NM_018998	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	hg19	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	t	18.13	3.556330	0.65425	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	T;T;D	0.84070	-0.63;0.99;-1.8	4.32	3.17	0.36434	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);F-box domain, Skp2-like (1);	0.049177	0.85682	D	0.000000	D	0.86322	0.5905	M	0.76574	2.34	0.53005	D	0.999961	D	0.65815	0.995	P	0.55455	0.776	D	0.84579	0.0660	10	0.44086	T	0.13	-19.8322	9.7758	0.40618	0.0:0.0825:0.0:0.9175	.	78	Q969U6	FBXW5_HUMAN	G	78	ENSP00000313034:D78G;ENSP00000404829:D78G;ENSP00000394011:D78G	ENSP00000313034:D78G	D	-	2	0	FBXW5	138957740	1.000000	0.71417	0.014000	0.15608	0.976000	0.68499	7.258000	0.78371	0.687000	0.31509	0.454000	0.30748	GAC	.	.		0.657	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998	
RASGEF1A	221002	hgsc.bcm.edu	37	10	43694571	43694571	+	Silent	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr10:43694571G>A	ENST00000395809.1	-	8	3427	c.921C>T	c.(919-921)atC>atT	p.I307I	RASGEF1A_ENST00000374459.1_Silent_p.I315I|RASGEF1A_ENST00000395810.1_Silent_p.I307I|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	307	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TGAAGTTCCCGATGTTGAAGC	0.602																																					p.I307I		Atlas-SNP	.											.	RASGEF1A	66	.	0			c.C921T						.						75.0	62.0	66.0					10																	43694571		2203	4300	6503	SO:0001819	synonymous_variant	221002	exon8			GTTCCCGATGTTG	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.921C>T	chr10.hg19:g.43694571G>A		97.0	0.0		75.0	21.0	NM_145313	Q8TBF1	Silent	SNP	ENST00000395809.1	hg19	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	5.560	0.288196	0.10513	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.26	-9.08	0.00720	.	.	.	.	.	T	0.58293	0.2112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67879	-0.5556	4	.	.	.	.	13.8525	0.63506	0.5851:0.0707:0.3442:0.0	.	.	.	.	W	209	.	.	R	-	1	2	RASGEF1A	43014577	0.011000	0.17503	0.336000	0.25522	0.744000	0.42396	-0.757000	0.04772	-2.469000	0.00531	-2.970000	0.00081	CGG	.	.		0.602	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	
OLFML1	283298	hgsc.bcm.edu	37	11	7530670	7530670	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:7530670G>T	ENST00000329293.3	+	3	854	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	OLFML1_ENST00000530135.1_Missense_Mutation_p.V154L|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	154	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTTGAAAATAGTGAAGAAGAT	0.398																																					p.V154L		Atlas-SNP	.											.	OLFML1	54	.	0			c.G460T						.						113.0	111.0	112.0					11																	7530670		2201	4296	6497	SO:0001583	missense	283298	exon3			AAAATAGTGAAGA	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.460G>T	chr11.hg19:g.7530670G>T	ENSP00000332511:p.Val154Leu	115.0	0.0		106.0	5.0	NM_198474	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	hg19	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749572	0.30955	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88741	-2.42;-2.42	5.78	4.86	0.63082	Olfactomedin-like (3);	0.124396	0.52532	D	0.000069	D	0.88370	0.6418	L	0.31207	0.915	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.65010	0.847;0.931	T	0.83283	-0.0037	10	0.10636	T	0.68	.	12.9717	0.58515	0.0797:0.0:0.9203:0.0	.	18;154	B4DN61;Q6UWY5	.;OLFL1_HUMAN	L	154	ENSP00000433455:V154L;ENSP00000332511:V154L	ENSP00000332511:V154L	V	+	1	0	OLFML1	7487246	0.999000	0.42202	1.000000	0.80357	0.922000	0.55478	2.781000	0.47750	2.724000	0.93272	0.563000	0.77884	GTG	.	.		0.398	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
RAG1	5896	hgsc.bcm.edu	37	11	36597181	36597181	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:36597181G>T	ENST00000299440.5	+	2	2439	c.2327G>T	c.(2326-2328)cGg>cTg	p.R776L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGAACTGCGGGATCGGGTG	0.488									Familial Hemophagocytic Lymphohistiocytosis																												p.R776L	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Atlas-SNP	.											RAG1,NS,carcinoma,+1,1	RAG1	151	.	0			c.G2327T						.						81.0	78.0	79.0					11																	36597181		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AACTGCGGGATCG	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2327G>T	chr11.hg19:g.36597181G>T	ENSP00000299440:p.Arg776Leu	77.0	0.0		59.0	5.0	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	hg19	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390696	0.82902	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87650	-2.28;-2.28	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.96333	3.805	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96387	0.9286	10	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	776	P15918	RAG1_HUMAN	L	776	ENSP00000434610:R776L;ENSP00000299440:R776L	ENSP00000299440:R776L	R	+	2	0	RAG1	36553757	1.000000	0.71417	0.975000	0.42487	0.913000	0.54294	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	CGG	.	.		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
CD82	3732	hgsc.bcm.edu	37	11	44639862	44639862	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:44639862G>A	ENST00000227155.4	+	8	837	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.G172S	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	197						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						CGAGGCCCCCGGCAACAGGAC	0.657																																					p.G197S		Atlas-SNP	.											.	CD82	27	.	0			c.G589A						.						37.0	36.0	36.0					11																	44639862		2203	4299	6502	SO:0001583	missense	3732	exon8			GCCCCCGGCAACA	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.589G>A	chr11.hg19:g.44639862G>A	ENSP00000227155:p.Gly197Ser	104.0	0.0		117.0	18.0	NM_002231	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	hg19	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316841	0.23908	.	.	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000524750	T;T	0.76186	-1.0;-1.0	4.13	-4.63	0.03359	Tetraspanin, EC2 domain (1);	35.015100	0.00481	N	0.000133	T	0.44371	0.1290	N	0.02721	-0.515	0.09310	N	1	B;B	0.20550	0.046;0.017	B;B	0.15052	0.012;0.002	T	0.46176	-0.9210	10	0.09338	T	0.73	.	5.4746	0.16688	0.5037:0.2847:0.2116:0.0	.	172;197	E9PC70;P27701	.;CD82_HUMAN	S	197;172;15	ENSP00000227155:G197S;ENSP00000339686:G172S	ENSP00000227155:G197S	G	+	1	0	CD82	44596438	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.867000	0.01646	-0.876000	0.04017	0.561000	0.74099	GGC	.	.		0.657	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1		
TRIM29	23650	hgsc.bcm.edu	37	11	120008061	120008061	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:120008061C>T	ENST00000341846.5	-	1	1100	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	227					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TTGCCATGCACGGGACACTTG	0.602																																					p.V227M		Atlas-SNP	.											.	TRIM29	78	.	0			c.G679A						.						69.0	68.0	68.0					11																	120008061		2203	4300	6503	SO:0001583	missense	23650	exon1			CATGCACGGGACA	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.679G>A	chr11.hg19:g.120008061C>T	ENSP00000343129:p.Val227Met	34.0	0.0		60.0	15.0	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	hg19	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168370	0.38315	.	.	ENSG00000137699	ENST00000341846	T	0.43294	0.95	5.76	-2.64	0.06114	Zinc finger, B-box (3);	0.514935	0.17375	N	0.176526	T	0.24431	0.0592	L	0.39898	1.24	0.58432	D	0.999999	B	0.22909	0.077	B	0.18561	0.022	T	0.04976	-1.0914	9	.	.	.	.	4.6247	0.12472	0.1062:0.3842:0.3402:0.1694	.	227	Q14134	TRI29_HUMAN	M	227	ENSP00000343129:V227M	.	V	-	1	0	TRIM29	119513271	0.001000	0.12720	0.581000	0.28614	0.967000	0.64934	-0.139000	0.10358	-0.428000	0.07339	-0.823000	0.03104	GTG	.	.		0.602	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101	
GRAMD1B	57476	hgsc.bcm.edu	37	11	123474148	123474148	+	Silent	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:123474148G>A	ENST00000529750.1	+	8	963	c.636G>A	c.(634-636)aaG>aaA	p.K212K	GRAMD1B_ENST00000456860.2_Silent_p.K219K|GRAMD1B_ENST00000322282.7_Silent_p.K212K	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	212						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGTGTCCCAAGGAGCTCTGGC	0.587																																					p.K212K		Atlas-SNP	.											.	GRAMD1B	122	.	0			c.G636A						.						70.0	69.0	69.0					11																	123474148		1986	4161	6147	SO:0001819	synonymous_variant	57476	exon8			TCCCAAGGAGCTC	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.636G>A	chr11.hg19:g.123474148G>A		105.0	0.0		107.0	22.0	NM_020716	Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	hg19	CCDS53720.1																																																																																			.	.		0.587	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
ROBO3	64221	hgsc.bcm.edu	37	11	124747876	124747876	+	Silent	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr11:124747876G>A	ENST00000397801.1	+	21	3222	c.3030G>A	c.(3028-3030)acG>acA	p.T1010T	ROBO3_ENST00000538940.1_Silent_p.T988T|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1010					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCAGGGGCACGGCCGCCCCTG	0.607																																					p.T1010T		Atlas-SNP	.											.	ROBO3	199	.	0			c.G3030A						.						12.0	14.0	13.0					11																	124747876		1843	4079	5922	SO:0001819	synonymous_variant	64221	exon21			GGGCACGGCCGCC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3030G>A	chr11.hg19:g.124747876G>A		855.0	1.0		793.0	167.0	NM_022370		Silent	SNP	ENST00000397801.1	hg19	CCDS44755.1																																																																																			.	.		0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	
YAF2	10138	hgsc.bcm.edu	37	12	42555530	42555530	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr12:42555530C>T	ENST00000534854.2	-	3	257	c.190G>A	c.(190-192)Gtt>Att	p.V64I	YAF2_ENST00000380790.4_Missense_Mutation_p.V22I|YAF2_ENST00000380788.3_Missense_Mutation_p.V55I|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000442791.3_Missense_Mutation_p.V88I	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	64					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TGCTGAGTAACCTGCTGTGCA	0.353																																					p.V88I		Atlas-SNP	.											.	YAF2	16	.	0			c.G262A						.						95.0	95.0	95.0					12																	42555530		2203	4300	6503	SO:0001583	missense	10138	exon4			GAGTAACCTGCTG	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.190G>A	chr12.hg19:g.42555530C>T	ENSP00000439256:p.Val64Ile	93.0	0.0		98.0	14.0	NM_001190979	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	hg19	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.332953	0.60853	.	.	ENSG00000015153	ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788;ENST00000548917	.	.	.	5.43	4.54	0.55810	.	0.054093	0.64402	D	0.000001	T	0.57946	0.2088	L	0.54323	1.7	0.80722	D	1	B;B;B	0.17465	0.004;0.022;0.002	B;B;B	0.14578	0.011;0.011;0.005	T	0.56535	-0.7963	9	0.46703	T	0.11	.	14.2203	0.65823	0.0:0.928:0.0:0.072	.	22;55;64	B4DFU3;A6NL56;Q8IY57	.;.;YAF2_HUMAN	I	88;64;22;55;25	.	ENSP00000370165:V55I	V	-	1	0	YAF2	40841797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	1.413000	0.46997	0.650000	0.86243	GTT	.	.		0.353	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1		
RAPGEF3	10411	hgsc.bcm.edu	37	12	48137437	48137437	+	Silent	SNP	T	T	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr12:48137437T>A	ENST00000449771.2	-	18	1789	c.1701A>T	c.(1699-1701)ccA>ccT	p.P567P	RAPGEF3_ENST00000405493.2_Silent_p.P525P|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000389212.3_Silent_p.P567P|RAPGEF3_ENST00000549151.1_Silent_p.P525P|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Silent_p.P525P			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	567					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGAGTGGTCTGGCCGGCAGA	0.627																																					p.P567P		Atlas-SNP	.											.	RAPGEF3	98	.	0			c.A1701T						.						61.0	51.0	54.0					12																	48137437		2203	4300	6503	SO:0001819	synonymous_variant	10411	exon18			GTGGTCTGGCCGG	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1701A>T	chr12.hg19:g.48137437T>A		97.0	0.0		82.0	12.0	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	hg19	CCDS41775.1																																																																																			.	.		0.627	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	
MMP19	4327	hgsc.bcm.edu	37	12	56234593	56234593	+	Silent	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr12:56234593C>T	ENST00000322569.4	-	4	469	c.378G>A	c.(376-378)cgG>cgA	p.R126R	MMP19_ENST00000548629.1_Silent_p.R103R|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000409200.3_Silent_p.R126R	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	126					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GCAGGGCTGCCCGGGCTGTGT	0.582																																					p.R126R		Atlas-SNP	.											MMP19,colon,carcinoma,-2,1	MMP19	61	.	0			c.G378A						.						95.0	88.0	90.0					12																	56234593		2203	4300	6503	SO:0001819	synonymous_variant	4327	exon4			GGCTGCCCGGGCT	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.378G>A	chr12.hg19:g.56234593C>T		90.0	0.0		85.0	13.0	NM_001272101	B4E030|O15278|O95606|Q99580	Silent	SNP	ENST00000322569.4	hg19	CCDS8895.1																																																																																			.	.		0.582	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
FGD6	55785	hgsc.bcm.edu	37	12	95478307	95478307	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr12:95478307A>C	ENST00000343958.4	-	20	4446	c.4223T>G	c.(4222-4224)gTa>gGa	p.V1408G		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1408	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGCTTTGAATACATAAAATAA	0.323																																					p.V1408G		Atlas-SNP	.											.	FGD6	127	.	0			c.T4223G						.						114.0	122.0	119.0					12																	95478307		2203	4300	6503	SO:0001583	missense	55785	exon20			TTGAATACATAAA	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4223T>G	chr12.hg19:g.95478307A>C	ENSP00000344446:p.Val1408Gly	75.0	0.0		73.0	15.0	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	hg19	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521199	0.64747	.	.	ENSG00000180263	ENST00000343958	T	0.13196	2.61	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.360238	0.20173	N	0.097684	T	0.28466	0.0704	L	0.48642	1.525	0.80722	D	1	D	0.62365	0.991	P	0.61658	0.892	T	0.00852	-1.1540	10	0.52906	T	0.07	-6.3639	15.1513	0.72700	1.0:0.0:0.0:0.0	.	1408	Q6ZV73	FGD6_HUMAN	G	1408	ENSP00000344446:V1408G	ENSP00000344446:V1408G	V	-	2	0	FGD6	94002438	1.000000	0.71417	0.864000	0.33941	0.815000	0.46073	5.726000	0.68515	1.979000	0.57680	0.402000	0.26972	GTA	.	.		0.323	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
FGD6	55785	hgsc.bcm.edu	37	12	95478356	95478356	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr12:95478356A>C	ENST00000343958.4	-	20	4397	c.4174T>G	c.(4174-4176)Tcc>Gcc	p.S1392A		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1392	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTAGACTCGGAATTCTCATCT	0.353																																					p.S1392A		Atlas-SNP	.											.	FGD6	127	.	0			c.T4174G						.						99.0	107.0	104.0					12																	95478356		2203	4299	6502	SO:0001583	missense	55785	exon20			ACTCGGAATTCTC	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4174T>G	chr12.hg19:g.95478356A>C	ENSP00000344446:p.Ser1392Ala	77.0	0.0		85.0	16.0	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	hg19	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913463	0.33815	.	.	ENSG00000180263	ENST00000343958	T	0.75821	-0.97	4.98	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.37012	N	0.002291	T	0.62109	0.2401	L	0.28649	0.875	0.80722	D	1	B	0.15719	0.014	B	0.24269	0.052	T	0.52609	-0.8553	10	0.23891	T	0.37	-6.7278	11.694	0.51532	0.8515:0.1485:0.0:0.0	.	1392	Q6ZV73	FGD6_HUMAN	A	1392	ENSP00000344446:S1392A	ENSP00000344446:S1392A	S	-	1	0	FGD6	94002487	0.738000	0.28186	0.996000	0.52242	0.769000	0.43574	1.817000	0.39002	0.706000	0.31912	0.402000	0.26972	TCC	.	.		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
MTUS2	23281	hgsc.bcm.edu	37	13	29933428	29933428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr13:29933428C>T	ENST00000431530.3	+	6	3023	c.2965C>T	c.(2965-2967)Cga>Tga	p.R989*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	979	Localization to the growing distal tip of microtubules.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCGGCAGCTCGAAATGGGTT	0.582																																					p.R989X		Atlas-SNP	.											MTUS2_ENST00000431530,NS,carcinoma,0,1	MTUS2	279	.	0			c.C2965T						.						14.0	15.0	14.0					13																	29933428		1922	4129	6051	SO:0001587	stop_gained	23281	exon6			GCAGCTCGAAATG	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2965C>T	chr13.hg19:g.29933428C>T	ENSP00000392057:p.Arg989*	184.0	0.0		175.0	41.0	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	ENST00000431530.3	hg19	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.545065	0.98348	.	.	ENSG00000132938	ENST00000431530	.	.	.	4.91	3.99	0.46301	.	0.224065	0.29861	N	0.011013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7856	0.40675	0.3027:0.6973:0.0:0.0	.	.	.	.	X	989	.	.	R	+	1	2	MTUS2	28831428	0.893000	0.30496	0.906000	0.35671	0.374000	0.29953	1.365000	0.34182	2.560000	0.86352	0.591000	0.81541	CGA	.	.		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
NBEA	26960	hgsc.bcm.edu	37	13	35883725	35883726	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr13:35883725_35883726GG>TT	ENST00000400445.3	+	36	6433_6434	c.5899_5900GG>TT	c.(5899-5901)GGa>TTa	p.G1967L	NBEA_ENST00000310336.4_Missense_Mutation_p.G1967L|NBEA_ENST00000540320.1_Missense_Mutation_p.G1967L|NBEA_ENST00000379939.2_Missense_Mutation_p.G1964L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1967					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCAATGAAGGAAGGTAATTA	0.347																																					p.G1967X|p.G1967V		Atlas-SNP	.											.	NBEA	340	.	0			c.G5899T|c.G5900T						.																																			SO:0001583	missense	26960	exon36			AATGAAGGAAGGT|ATGAAGGAAGGTA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	Exception_encountered	chr13.hg19:g.35883725_35883726delinsTT	ENSP00000383295:p.Gly1967Leu	208.0|205.0	0.0		213.0|211.0	36.0|34.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1																																																																																			.	.		0.347	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
TPPP2	122664	hgsc.bcm.edu	37	14	21498863	21498863	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr14:21498863T>A	ENST00000321760.6	+	2	271	c.123T>A	c.(121-123)gaT>gaA	p.D41E	TPPP2_ENST00000530140.2_Missense_Mutation_p.D41E|RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000460647.2_Missense_Mutation_p.D41E|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	41						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCATCATGGATGGCAAGACAG	0.498																																					p.D41E		Atlas-SNP	.											.	TPPP2	22	.	0			c.T123A						.						100.0	72.0	81.0					14																	21498863		2203	4300	6503	SO:0001583	missense	122664	exon2			CATGGATGGCAAG	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.123T>A	chr14.hg19:g.21498863T>A	ENSP00000317595:p.Asp41Glu	94.0	0.0		99.0	11.0	NM_173846	Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	hg19	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418688	0.83559	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.37	-6.66	0.01789	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.89214	3.015	0.52099	D	0.99994	D	0.54397	0.966	P	0.61397	0.888	T	0.67979	-0.5530	10	0.72032	D	0.01	-16.1604	8.7954	0.34876	0.1102:0.4846:0.0:0.4052	.	41	P59282	TPPP2_HUMAN	E	41;41;41;41;36	ENSP00000317595:D41E;ENSP00000427504:D41E;ENSP00000435356:D41E;ENSP00000423171:D41E;ENSP00000421438:D36E	ENSP00000317595:D41E	D	+	3	2	TPPP2	20568703	0.008000	0.16893	0.596000	0.28811	0.977000	0.68977	-1.049000	0.03514	-1.583000	0.01638	0.533000	0.62120	GAT	.	.		0.498	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846	
AKAP6	9472	hgsc.bcm.edu	37	14	33290961	33290961	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr14:33290961G>T	ENST00000280979.4	+	13	4112	c.3942G>T	c.(3940-3942)atG>atT	p.M1314I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1314					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCACTGGCATGACACAGCCTA	0.408																																					p.M1314I	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.G3942T						.						53.0	51.0	52.0					14																	33290961		2203	4300	6503	SO:0001583	missense	9472	exon13			TGGCATGACACAG	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3942G>T	chr14.hg19:g.33290961G>T	ENSP00000280979:p.Met1314Ile	72.0	0.0		62.0	11.0	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	2.092	-0.408108	0.04832	.	.	ENSG00000151320	ENST00000280979	T	0.04502	3.61	5.92	2.65	0.31530	.	0.761307	0.13175	N	0.407992	T	0.02649	0.0080	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.33141	T	0.24	0.181	0.2613	0.00219	0.2332:0.1703:0.2484:0.348	.	1314	Q13023	AKAP6_HUMAN	I	1314	ENSP00000280979:M1314I	ENSP00000280979:M1314I	M	+	3	0	AKAP6	32360712	0.116000	0.22171	0.033000	0.17914	0.978000	0.69477	0.995000	0.29706	0.785000	0.33685	0.655000	0.94253	ATG	.	.		0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
PDE8A	5151	hgsc.bcm.edu	37	15	85634389	85634389	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr15:85634389A>T	ENST00000310298.4	+	9	1081	c.829A>T	c.(829-831)Aat>Tat	p.N277Y	PDE8A_ENST00000339708.5_Intron|PDE8A_ENST00000394553.1_Missense_Mutation_p.N277Y|PDE8A_ENST00000557819.2_Intron|PDE8A_ENST00000557957.1_Missense_Mutation_p.N205Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	277	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CGATACTATAAATTCATGCAT	0.383																																					p.N277Y		Atlas-SNP	.											.	PDE8A	50	.	0			c.A829T						.						79.0	77.0	78.0					15																	85634389		2203	4299	6502	SO:0001583	missense	5151	exon8			ACTATAAATTCAT	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.829A>T	chr15.hg19:g.85634389A>T	ENSP00000311453:p.Asn277Tyr	157.0	0.0		151.0	24.0	NM_002605	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	hg19	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127204	0.56721	.	.	ENSG00000073417	ENST00000310298;ENST00000394553	T;T	0.76186	-1.0;-1.0	4.73	4.73	0.59995	PAS (3);PAS fold (1);	0.222920	0.44902	N	0.000414	D	0.82884	0.5134	M	0.70903	2.155	0.58432	D	0.999998	D	0.76494	0.999	D	0.69479	0.964	T	0.81967	-0.0690	10	0.33940	T	0.23	.	12.2422	0.54549	1.0:0.0:0.0:0.0	.	277	O60658	PDE8A_HUMAN	Y	277	ENSP00000311453:N277Y;ENSP00000378056:N277Y	ENSP00000311453:N277Y	N	+	1	0	PDE8A	83435393	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.188000	0.89710	1.981000	0.57761	0.460000	0.39030	AAT	.	.		0.383	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
SLCO3A1	28232	hgsc.bcm.edu	37	15	92459637	92459637	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr15:92459637G>A	ENST00000318445.6	+	2	809	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V199I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	199					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GCCCCTGGGCGTCTCCTACAT	0.602																																					p.V199I		Atlas-SNP	.											.	SLCO3A1	84	.	0			c.G595A						.						23.0	24.0	24.0					15																	92459637		2198	4298	6496	SO:0001583	missense	28232	exon2			CTGGGCGTCTCCT	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.595G>A	chr15.hg19:g.92459637G>A	ENSP00000320634:p.Val199Ile	89.0	0.0		77.0	18.0	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	hg19	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880178	0.72294	.	.	ENSG00000176463	ENST00000318445;ENST00000424469	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.064935	0.64402	D	0.000007	T	0.40546	0.1121	N	0.17474	0.49	0.80722	D	1	D;D;B	0.76494	0.996;0.999;0.337	P;D;B	0.76071	0.732;0.987;0.093	T	0.08597	-1.0714	10	0.02654	T	1	.	18.267	0.90055	0.0:0.0:1.0:0.0	.	141;199;199	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	199	ENSP00000320634:V199I;ENSP00000387846:V199I	ENSP00000320634:V199I	V	+	1	0	SLCO3A1	90260641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.323000	0.72891	2.567000	0.86603	0.655000	0.94253	GTC	.	.		0.602	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
HEATR3	55027	hgsc.bcm.edu	37	16	50117925	50117925	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr16:50117925G>A	ENST00000299192.7	+	8	1310	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	HEATR3_ENST00000285767.4_Missense_Mutation_p.M287I|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	373										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCAACATGTGCTGCAATG	0.398																																					p.M373I		Atlas-SNP	.											.	HEATR3	59	.	0			c.G1119A						.						129.0	119.0	122.0					16																	50117925		2198	4300	6498	SO:0001583	missense	55027	exon8			CAACATGTGCTGC	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1119G>A	chr16.hg19:g.50117925G>A	ENSP00000299192:p.Met373Ile	79.0	0.0		67.0	5.0	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220261	0.58560	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.30182	1.54;1.54	6.03	6.03	0.97812	Armadillo-type fold (1);	0.034798	0.85682	D	0.000000	T	0.30198	0.0757	L	0.56769	1.78	0.80722	D	1	B;B	0.34372	0.023;0.451	B;B	0.26517	0.019;0.07	T	0.12192	-1.0557	10	0.10902	T	0.67	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	287;373	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	287;373	ENSP00000285767:M287I;ENSP00000299192:M373I	ENSP00000285767:M287I	M	+	3	0	HEATR3	48675426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.649000	0.91067	2.868000	0.98415	0.557000	0.71058	ATG	.	.		0.398	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
DYNC1LI2	1783	hgsc.bcm.edu	37	16	66785466	66785466	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr16:66785466A>T	ENST00000258198.2	-	1	235	c.29T>A	c.(28-30)cTg>cAg	p.L10Q	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.L10Q|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.L10Q|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.L10Q	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	10					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACCTAGCAGCAGCTTCTTCTC	0.746																																					p.L10Q		Atlas-SNP	.											.	DYNC1LI2	37	.	0			c.T29A						.						18.0	22.0	21.0					16																	66785466		2077	4079	6156	SO:0001583	missense	1783	exon1			AGCAGCAGCTTCT	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.29T>A	chr16.hg19:g.66785466A>T	ENSP00000258198:p.Leu10Gln	88.0	0.0		61.0	8.0	NM_006141	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	hg19	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179213	0.78564	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.51325	2.08;0.71;0.71;1.21	4.01	4.01	0.46588	.	0.087247	0.49305	D	0.000145	T	0.55577	0.1929	L	0.51422	1.61	0.41912	D	0.990472	P;D;B;D	0.55172	0.954;0.97;0.007;0.97	P;P;B;P	0.57057	0.812;0.601;0.013;0.725	T	0.60500	-0.7251	10	0.72032	D	0.01	2.5683	12.0326	0.53406	1.0:0.0:0.0:0.0	.	10;10;10;10	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	Q	10	ENSP00000258198:L10Q;ENSP00000368795:L10Q;ENSP00000394289:L10Q;ENSP00000408566:L10Q	ENSP00000258198:L10Q	L	-	2	0	DYNC1LI2	65342967	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.165000	0.58196	1.662000	0.50781	0.455000	0.32223	CTG	.	.		0.746	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141	
RFWD3	55159	hgsc.bcm.edu	37	16	74678544	74678544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr16:74678544C>T	ENST00000361070.4	-	5	979	c.882G>A	c.(880-882)tgG>tgA	p.W294*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.W294*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	294					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAGCATTGGTCCACTGTTCCA	0.498																																					p.W294X		Atlas-SNP	.											.	RFWD3	49	.	0			c.G882A						.						104.0	95.0	98.0					16																	74678544		2198	4300	6498	SO:0001587	stop_gained	55159	exon5			ATTGGTCCACTGT	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.882G>A	chr16.hg19:g.74678544C>T	ENSP00000354361:p.Trp294*	114.0	0.0		100.0	17.0	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Nonsense_Mutation	SNP	ENST00000361070.4	hg19	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	40	8.344797	0.98769	.	.	ENSG00000168411	ENST00000361070	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3476	20.328	0.98708	0.0:1.0:0.0:0.0	.	.	.	.	X	294	.	ENSP00000354361:W294X	W	-	3	0	RFWD3	73236045	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.239000	0.78182	2.802000	0.96397	0.561000	0.74099	TGG	.	.		0.498	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	
MVD	4597	hgsc.bcm.edu	37	16	88722115	88722115	+	Silent	SNP	T	T	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr16:88722115T>A	ENST00000301012.3	-	6	656	c.627A>T	c.(625-627)acA>acT	p.T209T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	209					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CGGTACTGCCTGTCAGCTTCT	0.682																																					p.T209T		Atlas-SNP	.											.	MVD	27	.	0			c.A627T						.						37.0	30.0	32.0					16																	88722115		2173	4252	6425	SO:0001819	synonymous_variant	4597	exon6			ACTGCCTGTCAGC	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.627A>T	chr16.hg19:g.88722115T>A		52.0	0.0		53.0	15.0	NM_002461	Q53Y65	Silent	SNP	ENST00000301012.3	hg19	CCDS10968.1																																																																																			.	.		0.682	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461	
DLG4	1742	hgsc.bcm.edu	37	17	7106632	7106632	+	Silent	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr17:7106632G>A	ENST00000399506.2	-	7	713	c.522C>T	c.(520-522)atC>atT	p.I174I	DLG4_ENST00000399510.2_Silent_p.I217I|DLG4_ENST00000485100.1_Silent_p.I171I|DLG4_ENST00000302955.6_Silent_p.I171I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	174	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGCCCCCTGCGATGCTGAAGC	0.577																																					p.I217I		Atlas-SNP	.											.	DLG4	110	.	0			c.C651T						.						60.0	59.0	59.0					17																	7106632		2003	4184	6187	SO:0001819	synonymous_variant	1742	exon9			CCCTGCGATGCTG	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.522C>T	chr17.hg19:g.7106632G>A		45.0	0.0		56.0	10.0	NM_001365	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	hg19																																																																																				.	.		0.577	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
KRTAP9-4	85280	hgsc.bcm.edu	37	17	39406008	39406008	+	Silent	SNP	A	A	C	rs568395340	byFrequency	TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr17:39406008A>C	ENST00000334109.2	+	1	70	c.36A>C	c.(34-36)acA>acC	p.T12T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	12	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.T12T(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCAGCCTACATGCTGCAGGA	0.597													.|||	2	0.000399361	0.0	0.0	5008	,	,		23836	0.0		0.0	False		,,,				2504	0.002				p.T12T		Atlas-SNP	.											KRTAP9-4,NS,carcinoma,0,1	KRTAP9-4	30	.	1	Substitution - coding silent(1)	prostate(1)	c.A36C						.						149.0	124.0	133.0					17																	39406008		2203	4298	6501	SO:0001819	synonymous_variant	85280	exon1			GCCTACATGCTGC	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.36A>C	chr17.hg19:g.39406008A>C		74.0	2.0		93.0	8.0	NM_033191	Q0VAE3	Silent	SNP	ENST00000334109.2	hg19	CCDS11386.1																																																																																			.	A|0.875;C|0.125		0.597	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1		
CNP	1267	hgsc.bcm.edu	37	17	40120710	40120710	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr17:40120710C>G	ENST00000393892.3	+	2	772	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	CNP_ENST00000591072.1_Intron|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.L190V	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	210					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCAGGTCTTCCTGGAAGAGCT	0.597																																					p.L210V		Atlas-SNP	.											.	CNP	58	.	0			c.C628G						.						18.0	19.0	19.0					17																	40120710		1940	4157	6097	SO:0001583	missense	1267	exon2			GTCTTCCTGGAAG		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.628C>G	chr17.hg19:g.40120710C>G	ENSP00000377470:p.Leu210Val	139.0	0.0		115.0	27.0	NM_033133		Missense_Mutation	SNP	ENST00000393892.3	hg19	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614459	0.46631	.	.	ENSG00000173786	ENST00000393892;ENST00000393888	T;T	0.59638	0.25;0.25	4.46	4.46	0.54185	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.000000	0.64402	D	0.000003	T	0.58949	0.2158	M	0.66939	2.045	0.80722	D	1	P;P	0.36438	0.553;0.497	B;B	0.43386	0.418;0.367	T	0.61372	-0.7076	10	0.48119	T	0.1	-14.907	8.5752	0.33595	0.0:0.8566:0.0:0.1434	.	210;190	P09543;P09543-2	CN37_HUMAN;.	V	210;190	ENSP00000377470:L210V;ENSP00000377466:L190V	ENSP00000377466:L190V	L	+	1	2	CNP	37374236	0.995000	0.38212	1.000000	0.80357	0.800000	0.45204	0.738000	0.26158	2.301000	0.77427	0.455000	0.32223	CTG	.	.		0.597	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2		
ALPK2	115701	hgsc.bcm.edu	37	18	56204804	56204804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr18:56204804G>T	ENST00000361673.3	-	5	2828	c.2615C>A	c.(2614-2616)tCa>tAa	p.S872*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	872						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGTAGACACTGAAGTCTCAGA	0.423																																					p.S872X		Atlas-SNP	.											.	ALPK2	487	.	0			c.C2615A						.						62.0	56.0	58.0					18																	56204804		2203	4300	6503	SO:0001587	stop_gained	115701	exon5			GACACTGAAGTCT	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2615C>A	chr18.hg19:g.56204804G>T	ENSP00000354991:p.Ser872*	127.0	0.0		123.0	6.0	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	39	7.832221	0.98513	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.47	4.56	0.56223	.	0.464462	0.20763	N	0.086134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.5793	8.8755	0.35343	0.11:0.0:0.89:0.0	.	.	.	.	X	872	.	ENSP00000354991:S872X	S	-	2	0	ALPK2	54355784	0.045000	0.20229	0.005000	0.12908	0.003000	0.03518	2.570000	0.45981	1.230000	0.43646	0.591000	0.81541	TCA	.	.		0.423	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
DAZAP1	26528	hgsc.bcm.edu	37	19	1432588	1432588	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:1432588C>T	ENST00000233078.4	+	11	1108	c.947C>T	c.(946-948)cCc>cTc	p.P316L	DAZAP1_ENST00000336761.6_Missense_Mutation_p.P316L	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	316	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCACTCCCGGGGCAGCA	0.647																																					p.P316L		Atlas-SNP	.											.	DAZAP1	52	.	0			c.C947T						.						64.0	73.0	70.0					19																	1432588		2203	4300	6503	SO:0001583	missense	26528	exon11			CCACTCCCGGGGC		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.947C>T	chr19.hg19:g.1432588C>T	ENSP00000233078:p.Pro316Leu	178.0	0.0		164.0	31.0	NM_018959	Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	hg19	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611931	0.46631	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.34859	1.34;1.38	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.998;0.998	T	0.17745	-1.0359	10	0.10111	T	0.7	.	16.8248	0.85928	0.0:1.0:0.0:0.0	.	383;316;316;82	Q5IRN4;Q96EP5;Q96EP5-2;B3KS63	.;DAZP1_HUMAN;.;.	L	316	ENSP00000233078:P316L;ENSP00000337132:P316L	ENSP00000233078:P316L	P	+	2	0	DAZAP1	1383588	1.000000	0.71417	0.219000	0.23793	0.223000	0.24884	7.773000	0.85462	2.215000	0.71742	0.561000	0.74099	CCC	.	.		0.647	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711	
KANK3	256949	hgsc.bcm.edu	37	19	8400165	8400165	+	Silent	SNP	T	T	C	rs201041593	byFrequency	TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:8400165T>C	ENST00000593649.1	-	3	611	c.546A>G	c.(544-546)caA>caG	p.Q182Q	KANK3_ENST00000330915.3_Silent_p.Q182Q			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	182										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCAGCTGCAGTTGGGCAGGGC	0.791													T|||	11	0.00219649	0.0	0.0	5008	,	,		5754	0.0089		0.001	False		,,,				2504	0.001				p.Q182Q		Atlas-SNP	.											.	KANK3	35	.	0			c.A546G						.						1.0	1.0	1.0					19																	8400165		656	1410	2066	SO:0001819	synonymous_variant	256949	exon3			CTGCAGTTGGGCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.546A>G	chr19.hg19:g.8400165T>C		1.0	0.0		7.0	7.0	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	hg19																																																																																				.	.		0.791	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471	
ZNF560	147741	hgsc.bcm.edu	37	19	9578805	9578805	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:9578805G>C	ENST00000301480.4	-	10	1031	c.818C>G	c.(817-819)tCt>tGt	p.S273C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAGGCGGAAAGATTTTCCATG	0.373																																					p.S273C		Atlas-SNP	.											.	ZNF560	162	.	0			c.C818G						.						103.0	98.0	100.0					19																	9578805		2203	4300	6503	SO:0001583	missense	147741	exon10			CGGAAAGATTTTC	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.818C>G	chr19.hg19:g.9578805G>C	ENSP00000301480:p.Ser273Cys	161.0	0.0		159.0	14.0	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	hg19	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269902	0.40095	.	.	ENSG00000198028	ENST00000301480	T	0.05855	3.38	1.68	-2.14	0.07123	.	.	.	.	.	T	0.07369	0.0186	L	0.33668	1.02	0.09310	N	1	D	0.61697	0.99	P	0.53593	0.73	T	0.22347	-1.0219	9	0.62326	D	0.03	.	2.0663	0.03603	0.2802:0.0:0.4502:0.2696	.	273	Q96MR9	ZN560_HUMAN	C	273	ENSP00000301480:S273C	ENSP00000301480:S273C	S	-	2	0	ZNF560	9439805	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-0.373000	0.07494	-0.441000	0.07201	0.491000	0.48974	TCT	.	.		0.373	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
CC2D1A	54862	hgsc.bcm.edu	37	19	14020667	14020667	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:14020667G>C	ENST00000318003.7	+	2	333	c.92G>C	c.(91-93)gGc>gCc	p.G31A	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G31A	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	31					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCCCAGATGGCCTGATGATC	0.597																																					p.G31A		Atlas-SNP	.											.	CC2D1A	67	.	0			c.G92C						.						112.0	113.0	113.0					19																	14020667		1973	4178	6151	SO:0001583	missense	54862	exon2			CAGATGGCCTGAT	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.92G>C	chr19.hg19:g.14020667G>C	ENSP00000313601:p.Gly31Ala	98.0	0.0		99.0	14.0	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	hg19	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411683	0.83340	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.21543	2.0	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	T	0.38746	0.1052	M	0.61703	1.905	0.40896	D	0.984114	D;D	0.67145	0.978;0.996	P;P	0.58266	0.679;0.836	T	0.06356	-1.0831	10	0.33141	T	0.24	-21.8567	16.153	0.81636	0.0:0.0:1.0:0.0	.	31;31	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	A	31;6	ENSP00000313601:G31A	ENSP00000313601:G31A	G	+	2	0	CC2D1A	13881667	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.771000	0.68881	2.547000	0.85894	0.655000	0.94253	GGC	.	.		0.597	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721	
SNRPA	6626	hgsc.bcm.edu	37	19	41263356	41263356	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:41263356G>T	ENST00000243563.3	+	2	743	c.193G>T	c.(193-195)Gcc>Tcc	p.A65S	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)	p.A65T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTCAGCAGCGCCACCAACGC	0.542																																					p.A65S		Atlas-SNP	.											SNRPA,rectum,carcinoma,0,1	SNRPA	20	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193T						.						88.0	83.0	85.0					19																	41263356		2203	4300	6503	SO:0001583	missense	6626	exon2			AGCAGCGCCACCA	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.193G>T	chr19.hg19:g.41263356G>T	ENSP00000243563:p.Ala65Ser	90.0	0.0		68.0	3.0	NM_004596		Missense_Mutation	SNP	ENST00000243563.3	hg19	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788663	0.49997	.	.	ENSG00000077312	ENST00000243563	T	0.30714	1.52	5.97	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.103999	0.64402	D	0.000003	T	0.42245	0.1194	M	0.83852	2.665	0.58432	D	0.999997	B	0.11235	0.004	B	0.36289	0.221	T	0.33828	-0.9853	10	0.30078	T	0.28	-35.8883	9.6557	0.39925	0.0739:0.0:0.7848:0.1412	.	65	P09012	SNRPA_HUMAN	S	65	ENSP00000243563:A65S	ENSP00000243563:A65S	A	+	1	0	SNRPA	45955196	1.000000	0.71417	0.973000	0.42090	0.714000	0.41099	6.474000	0.73578	1.546000	0.49388	-0.136000	0.14681	GCC	.	.		0.542	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596	
GRIN2D	2906	hgsc.bcm.edu	37	19	48918223	48918223	+	Silent	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:48918223C>G	ENST00000263269.3	+	6	1603	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	505					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTACGACCTCTACCTGGTCA	0.622																																					p.L505L		Atlas-SNP	.											.	GRIN2D	76	.	0			c.C1515G						.						49.0	47.0	48.0					19																	48918223		2203	4300	6503	SO:0001819	synonymous_variant	2906	exon6			CGACCTCTACCTG	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1515C>G	chr19.hg19:g.48918223C>G		127.0	0.0		123.0	28.0	NM_000836		Silent	SNP	ENST00000263269.3	hg19	CCDS12719.1																																																																																			.	.		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
LILRA6	79168	hgsc.bcm.edu	37	19	54746592	54746592	+	Silent	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:54746592G>A	ENST00000396365.2	-	1	48	c.9C>T	c.(7-9)ccC>ccT	p.P3P	LILRA6_ENST00000419410.2_Silent_p.P3P|LILRB3_ENST00000407860.2_Silent_p.P3P|LILRA6_ENST00000391735.3_Silent_p.P3P|LILRA6_ENST00000245621.5_Silent_p.P3P|LILRA6_ENST00000440558.2_Silent_p.P3P|LILRA6_ENST00000270464.5_Silent_p.P3P	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	3					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGAGGGCGGGCGTCATGG	0.642																																					p.P3P		Atlas-SNP	.											.	LILRA6	75	.	0			c.C9T						.						69.0	62.0	64.0					19																	54746592		2141	4264	6405	SO:0001819	synonymous_variant	79168	exon1			GAGGGCGGGCGTC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.9C>T	chr19.hg19:g.54746592G>A		238.0	0.0		270.0	62.0	NM_024318		Silent	SNP	ENST00000396365.2	hg19	CCDS42610.1																																																																																			.	.		0.642	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
PEG3	5178	hgsc.bcm.edu	37	19	57325481	57325481	+	Silent	SNP	G	G	C			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr19:57325481G>C	ENST00000326441.9	-	10	4692	c.4329C>G	c.(4327-4329)gcC>gcG	p.A1443A	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1443A|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1317A|PEG3_ENST00000598410.1_Silent_p.A1319A|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1443	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A1443A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGGCTGCTCGGCCTCTCCAT	0.572																																					p.A1443A		Atlas-SNP	.											ZIM2_ENST00000326441,NS,carcinoma,0,4	PEG3	414	.	2	Substitution - coding silent(2)	lung(2)	c.C4329G						.						65.0	61.0	62.0					19																	57325481		2203	4300	6503	SO:0001819	synonymous_variant	5178	exon9			CTGCTCGGCCTCT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4329C>G	chr19.hg19:g.57325481G>C		94.0	1.0		83.0	12.0	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	hg19	CCDS12948.1																																																																																			.	.		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
TNRC6B	23112	hgsc.bcm.edu	37	22	40661255	40661255	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr22:40661255C>G	ENST00000454349.2	+	5	1232	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q341E|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	341	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CACAGTAGGTCAGACATCCAG	0.463																																					p.Q341E		Atlas-SNP	.											.	TNRC6B	195	.	0			c.C1021G						.						58.0	56.0	57.0					22																	40661255		1910	4128	6038	SO:0001583	missense	23112	exon5			GTAGGTCAGACAT	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1021C>G	chr22.hg19:g.40661255C>G	ENSP00000401946:p.Gln341Glu	180.0	0.0		140.0	19.0	NM_001162501	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	hg19	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953868	0.18431	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.52754	0.65;0.65	5.07	5.07	0.68467	.	0.374289	0.27749	N	0.018007	T	0.37237	0.0996	L	0.52011	1.625	0.29708	N	0.839624	B;P;P	0.40083	0.252;0.702;0.587	B;B;B	0.32022	0.049;0.066;0.139	T	0.46470	-0.9189	10	0.39692	T	0.17	-2.8204	11.0146	0.47681	0.0:0.915:0.0:0.085	.	341;341;341	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	E	341	ENSP00000401946:Q341E;ENSP00000338371:Q341E	ENSP00000338371:Q341E	Q	+	1	0	TNRC6B	38991201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.805000	0.38883	2.369000	0.80426	0.650000	0.86243	CAG	.	.		0.463	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
DMD	1756	hgsc.bcm.edu	37	X	32536160	32536160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chrX:32536160C>A	ENST00000357033.4	-	18	2463	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E745*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E749*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																					p.E753X		Atlas-SNP	.											.	DMD	2127	.	3	Substitution - Missense(3)	prostate(3)	c.G2257T						.						73.0	65.0	67.0					X																	32536160		2202	4300	6502	SO:0001587	stop_gained	1756	exon18			TGCCTTCCTTCCG	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>T	chrX.hg19:g.32536160C>A	ENSP00000354923:p.Glu753*	268.0	0.0		317.0	123.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	40	8.214672	0.98709	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	.	.	.	X	745;749;753;753;630;745	.	ENSP00000288447:E745X	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA	.	.		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
PABPC5	140886	hgsc.bcm.edu	37	X	90690668	90690668	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chrX:90690668A>G	ENST00000312600.3	+	2	306	c.92A>G	c.(91-93)gAg>gGg	p.E31G	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	31	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GATGTCACCGAGGACATGCTC	0.572																																					p.E31G		Atlas-SNP	.											.	PABPC5	92	.	0			c.A92G						.						65.0	50.0	55.0					X																	90690668		2203	4300	6503	SO:0001583	missense	140886	exon2			TCACCGAGGACAT	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.92A>G	chrX.hg19:g.90690668A>G	ENSP00000308012:p.Glu31Gly	76.0	0.0		66.0	7.0	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	hg19	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769271	0.69992	.	.	ENSG00000174740	ENST00000312600	T	0.23348	1.91	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.67321	-0.5700	10	0.87932	D	0	.	10.9829	0.47506	1.0:0.0:0.0:0.0	.	31	Q96DU9	PABP5_HUMAN	G	31	ENSP00000308012:E31G	ENSP00000308012:E31G	E	+	2	0	PABPC5	90577324	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.747000	0.91610	1.957000	0.56846	0.486000	0.48141	GAG	.	.		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
MT-ND5	4540	hgsc.bcm.edu	37	M	12622	12622	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chrM:12622G>A	ENST00000361567.2	+	1	286	c.286G>A	c.(286-288)Gtt>Att	p.V96I	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	96					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(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAGCATTGTTCGTTACATGGT	0.378																																					p.V96I		Atlas-SNP	.											.	.	.	.	0			c.G286A						.																																			SO:0001583	missense	0	exon1			TTGTTCGTTACAT			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.286G>A	chrM.hg19:g.12622G>A	ENSP00000354813:p.Val96Ile	25.0	0.0		32.0	10.0	ENST00000361567	Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	hg19																																																																																				.	.		0.378	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036	
WISP3	8838	hgsc.bcm.edu	37	6	112390640	112390641	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr6:112390640_112390641delTT	ENST00000368666.2	+	5	1168_1169	c.882_883delTT	c.(880-885)acttttfs	p.F295fs	TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000230529.5_Frame_Shift_Del_p.F295fs|WISP3_ENST00000409166.1_Frame_Shift_Del_p.F71fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.F295fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.F272fs|WISP3_ENST00000361714.1_Frame_Shift_Del_p.F313fs	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	295	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACAAACCCACTTTTTGTGGAAT	0.361																																					p.312_312del		Atlas-INDEL	.											.	WISP3	33	.	0			c.935_936del						.																																			SO:0001589	frameshift_variant	8838	exon5			.	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.882_883delTT	chr6.hg19:g.112390642_112390643delTT	ENSP00000357655:p.Phe295fs	103.0	0.0		98.0	15.0	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Frame_Shift_Del	DEL	ENST00000368666.2	hg19	CCDS5098.1																																																																																			.	.		0.361	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
ZNF502	91392	hgsc.bcm.edu	37	3	44762762	44762763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-AAD2-01A-11D-A40R-10	TCGA-DD-AAD2-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8f5469f1-7000-4a1b-834a-30e00f219671	ea06211a-5794-45d9-88ea-02b46933a273	g.chr3:44762762_44762763insA	ENST00000296091.4	+	4	709_710	c.453_454insA	c.(454-456)aaafs	p.K152fs	ZNF502_ENST00000449836.1_Frame_Shift_Ins_p.K152fs|ZNF502_ENST00000436624.2_Frame_Shift_Ins_p.K152fs	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	152					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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTGCACACAGAAAAAATCTTG	0.396																																					p.Q151fs		Atlas-INDEL	.											.	ZNF502	58	.	0			c.453_454insA						.																																			SO:0001589	frameshift_variant	91392	exon3			.	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.459dupA	chr3.hg19:g.44762768_44762768dupA	ENSP00000296091:p.Lys152fs	278.0	0.0		260.0	42.0	NM_001134442		Frame_Shift_Ins	INS	ENST00000296091.4	hg19	CCDS2719.1																																																																																			.	.		0.396	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
