#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MTOR	2475	hgsc.bcm.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	G	T	rs587777894		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:11184573G>T	ENST00000361445.4	-	47	6720	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S420Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																					p.S2215Y		Atlas-SNP	.											MTOR,NS,malignant_melanoma,0,5	MTOR	327	.	4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)	c.C6644A						PASS	.						101.0	98.0	99.0					1																	11184573		2203	4300	6503	SO:0001583	missense	2475	exon47			CGAAGAGATGTTG	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>A	chr1.hg19:g.11184573G>T	ENSP00000354558:p.Ser2215Tyr	83.0	0.0	.		71.0	24.0	.	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903707	0.92035	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.90182	0.4243	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	Y	2215;420	ENSP00000354558:S2215Y;ENSP00000366034:S420Y	ENSP00000354558:S2215Y	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT	.	.	.	none		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
MROH7	374977	hgsc.bcm.edu	37	1	55118778	55118778	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:55118778A>C	ENST00000421030.2	+	3	464	c.179A>C	c.(178-180)gAt>gCt	p.D60A	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D60A|MROH7_ENST00000395690.2_Missense_Mutation_p.D60A|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D60A	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	60						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTCGTTCCAGATCTTAATGAT	0.567																																					p.D60A		Atlas-SNP	.											.	.	.	.	0			c.A179C						PASS	.						77.0	78.0	77.0					1																	55118778		1918	4127	6045	SO:0001583	missense	374977	exon3			TTCCAGATCTTAA	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.179A>C	chr1.hg19:g.55118778A>C	ENSP00000396622:p.Asp60Ala	144.0	0.0	.		148.0	46.0	.	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	hg19	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509542	0.12883	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02974	4.62;4.09;4.11	3.58	1.19	0.21007	.	.	.	.	.	T	0.02012	0.0063	N	0.17082	0.46	0.09310	N	0.999998	B;B;P	0.46142	0.154;0.015;0.873	B;B;B	0.42495	0.053;0.018;0.389	T	0.47724	-0.9095	9	0.33141	T	0.24	.	3.5678	0.07907	0.6251:0.247:0.1279:0.0	.	60;60;60	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	A	60	ENSP00000396622:D60A;ENSP00000343211:D60A;ENSP00000379044:D60A	ENSP00000343211:D60A	D	+	2	0	HEATR8	54891366	0.027000	0.19231	0.058000	0.19502	0.109000	0.19521	0.013000	0.13310	0.238000	0.21222	0.459000	0.35465	GAT	.	.	.	none		0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
TRIM33	51592	hgsc.bcm.edu	37	1	114948195	114948195	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:114948195G>A	ENST00000358465.2	-	15	2688	c.2605C>T	c.(2605-2607)Cac>Tac	p.H869Y	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.H501Y|TRIM33_ENST00000369543.2_Missense_Mutation_p.H869Y	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	869					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCGACCTGTGCATGAGGCTT	0.468			T	RET	papillary thyroid																																p.H869Y		Atlas-SNP	.		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	TRIM33,NS,carcinoma,0,1	TRIM33	115	.	0			c.C2605T						PASS	.						218.0	196.0	203.0					1																	114948195		2203	4300	6503	SO:0001583	missense	51592	exon15			ACCTGTGCATGAG	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2605C>T	chr1.hg19:g.114948195G>A	ENSP00000351250:p.His869Tyr	243.0	0.0	.		243.0	65.0	.	NM_033020	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	hg19	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895312	0.72639	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75589	-0.81;-0.71;-0.95	5.29	5.29	0.74685	Zinc finger, FYVE/PHD-type (1);	0.224309	0.50627	D	0.000108	T	0.66944	0.2841	N	0.19112	0.55	0.53688	D	0.999974	D;D;P;P;P	0.54601	0.967;0.957;0.952;0.952;0.92	P;B;B;P;B	0.53102	0.718;0.402;0.446;0.548;0.346	T	0.72261	-0.4345	10	0.59425	D	0.04	-10.5094	19.2948	0.94118	0.0:0.0:1.0:0.0	.	501;501;64;869;869	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	Y	869;869;501	ENSP00000351250:H869Y;ENSP00000358556:H869Y;ENSP00000412077:H501Y	ENSP00000351250:H869Y	H	-	1	0	TRIM33	114749718	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.388000	0.73195	2.636000	0.89361	0.491000	0.48974	CAC	.	.	.	none		0.468	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
ADAMTSL4	54507	hgsc.bcm.edu	37	1	150525534	150525534	+	Missense_Mutation	SNP	C	C	A	rs146377111		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:150525534C>A	ENST00000369038.2	+	3	440	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P80Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P80Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P80Q|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	80	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGCTCCACCCGAGTCTGCCC	0.692																																					p.P80Q		Atlas-SNP	.											ADAMTSL4,NS,carcinoma,0,2	ADAMTSL4	101	.	0			c.C239A						PASS	.						23.0	26.0	25.0					1																	150525534		2202	4295	6497	SO:0001583	missense	54507	exon5			TCCACCCGAGTCT	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.239C>A	chr1.hg19:g.150525534C>A	ENSP00000358034:p.Pro80Gln	64.0	0.0	.		71.0	3.0	.	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.732956	0.00687	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.65549	-0.05;-0.16;0.15;-0.16	4.35	-7.79	0.01218	.	.	.	.	.	T	0.08714	0.0216	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.15473	0.001;0.002;0.003;0.013	B;B;B;B	0.12837	0.003;0.005;0.006;0.008	T	0.15925	-1.0420	9	0.21540	T	0.41	.	0.0314	0.00006	0.3189:0.1828:0.2132:0.2851	.	80;80;80;80	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	80	ENSP00000358037:P80Q;ENSP00000271643:P80Q;ENSP00000358035:P80Q;ENSP00000358034:P80Q	ENSP00000271643:P80Q	P	+	2	0	ADAMTSL4	148792158	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.846000	0.04336	-1.557000	0.01692	-2.375000	0.00234	CCG	.	C|1.000;T|0.000	.	alt		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
DHRS9	10170	hgsc.bcm.edu	37	2	169938176	169938176	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:169938176G>A	ENST00000327239.4	+	5	1589	c.85G>A	c.(85-87)Gat>Aat	p.D29N	DHRS9_ENST00000432060.2_Missense_Mutation_p.D89N|DHRS9_ENST00000357546.2_Missense_Mutation_p.D29N|DHRS9_ENST00000412271.1_Missense_Mutation_p.D29N|DHRS9_ENST00000428522.1_Missense_Mutation_p.D29N|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.D29N|DHRS9_ENST00000436483.2_Missense_Mutation_p.D29N	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	29					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGACATCACTGATAAGTACAT	0.428																																					p.D29N		Atlas-SNP	.											.	DHRS9	29	.	0			c.G85A						PASS	.						118.0	117.0	117.0					2																	169938176		2203	4300	6503	SO:0001583	missense	10170	exon5			ATCACTGATAAGT	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.85G>A	chr2.hg19:g.169938176G>A	ENSP00000316670:p.Asp29Asn	121.0	0.0	.		134.0	7.0	.	NM_005771	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099956	0.56183	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000450153;ENST00000436483;ENST00000412271	D;D;D;D;T;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;0.73;-2.53;-2.53	5.88	2.98	0.34508	NAD(P)-binding domain (1);	0.501056	0.24625	N	0.036936	T	0.77624	0.4158	N	0.11756	0.17	0.34824	D	0.738968	B;B	0.17268	0.021;0.013	B;B	0.19666	0.026;0.018	T	0.73550	-0.3947	10	0.30854	T	0.27	.	10.261	0.43427	0.228:0.0:0.772:0.0	.	89;29	B7Z416;Q9BPW9	.;DHRS9_HUMAN	N	29;29;89;29;29;29;29	ENSP00000316670:D29N;ENSP00000350154:D29N;ENSP00000389241:D89N;ENSP00000388564:D29N;ENSP00000391214:D29N;ENSP00000407167:D29N;ENSP00000407747:D29N	ENSP00000316670:D29N	D	+	1	0	DHRS9	169646422	0.316000	0.24580	0.753000	0.31225	0.908000	0.53690	0.839000	0.27586	0.752000	0.32923	0.655000	0.94253	GAT	.	.	.	none		0.428	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
ICA1L	130026	hgsc.bcm.edu	37	2	203680713	203680713	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:203680713C>A	ENST00000392237.2	-	8	861	c.704G>T	c.(703-705)tGg>tTg	p.W235L	ICA1L_ENST00000358299.2_Missense_Mutation_p.W235L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	235	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTTCTTCCAGAATCCAAG	0.388																																					p.W235L		Atlas-SNP	.											.	ICA1L	33	.	0			c.G704T						PASS	.						100.0	97.0	98.0					2																	203680713		2203	4300	6503	SO:0001583	missense	130026	exon8			TTCTTCCAGAATC	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.704G>T	chr2.hg19:g.203680713C>A	ENSP00000376070:p.Trp235Leu	59.0	0.0	.		84.0	4.0	.	NM_138468	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	hg19	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293325	0.80914	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	T;T	0.76186	-1.0;-1.0	5.77	4.87	0.63330	Arfaptin-like (3);	0.058720	0.64402	N	0.000001	T	0.79143	0.4396	M	0.65975	2.015	0.80722	D	1	P	0.45011	0.848	P	0.50825	0.651	T	0.78575	-0.2151	10	0.39692	T	0.17	.	13.7616	0.62971	0.1549:0.8451:0.0:0.0	.	235	Q8NDH6	ICA1L_HUMAN	L	235	ENSP00000376070:W235L;ENSP00000351047:W235L	ENSP00000351047:W235L	W	-	2	0	ICA1L	203388958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.358000	0.66064	1.399000	0.46721	0.655000	0.94253	TGG	.	.	.	none		0.388	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
CLCN2	1181	hgsc.bcm.edu	37	3	184075764	184075764	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr3:184075764G>A	ENST00000265593.4	-	5	772	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_ENST00000344937.7_Missense_Mutation_p.P201S|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.P201S|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.P157S|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	201					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597																																					p.P201S		Atlas-SNP	.											.	CLCN2	74	.	0			c.C601T						PASS	.						57.0	55.0	56.0					3																	184075764		2203	4300	6503	SO:0001583	missense	1181	exon5			CAAGCGGCATCCC	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.601C>T	chr3.hg19:g.184075764G>A	ENSP00000265593:p.Pro201Ser	119.0	0.0	.		100.0	5.0	.	NM_001171087	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	hg19	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.123267	0.77436	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.58	4.58	0.56647	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92450	0.7603	L	0.31926	0.97	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.915;0.976;0.992	D;D;P;P;D	0.97110	0.994;1.0;0.851;0.9;0.932	D	0.93567	0.6900	10	0.87932	D	0	-17.2281	16.3077	0.82855	0.0:0.0:1.0:0.0	.	201;157;201;201;201	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	S	201;201;157;201	ENSP00000265593:P201S;ENSP00000345056:P201S;ENSP00000400425:P157S;ENSP00000391928:P201S	ENSP00000265593:P201S	P	-	1	0	CLCN2	185558458	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.595000	0.98260	2.378000	0.81104	0.561000	0.74099	CCG	.	.	.	none		0.597	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
ITGA2	3673	hgsc.bcm.edu	37	5	52366069	52366069	+	Silent	SNP	C	C	G	rs142557473		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:52366069C>G	ENST00000296585.5	+	17	2357	c.2214C>G	c.(2212-2214)ccC>ccG	p.P738P		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	738					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGAGTTGCCCCGAGCACATCA	0.398																																					p.P738P		Atlas-SNP	.											.	ITGA2	211	.	0			c.C2214G						PASS	.						72.0	71.0	71.0					5																	52366069		2203	4300	6503	SO:0001819	synonymous_variant	3673	exon17			TTGCCCCGAGCAC		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2214C>G	chr5.hg19:g.52366069C>G		57.0	0.0	.		114.0	34.0	.	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	hg19	CCDS3957.1																																																																																			.	C|1.000;T|0.000	.	alt		0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140307713	140307713	+	Silent	SNP	A	A	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:140307713A>G	ENST00000253807.2	+	1	1236	c.1236A>G	c.(1234-1236)caA>caG	p.Q412Q	PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.Q412Q|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATACCAAGTCCTGATCA	0.517																																					p.Q412Q		Atlas-SNP	.											.	PCDHAC1	141	.	0			c.A1236G						PASS	.						81.0	79.0	80.0					5																	140307713		2203	4300	6503	SO:0001819	synonymous_variant	56135	exon1			ATACCAAGTCCTG	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1236A>G	chr5.hg19:g.140307713A>G		90.0	0.0	.		99.0	22.0	.	NM_031882	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	hg19	CCDS4241.1																																																																																			.	.	.	none		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PKD1L1	168507	hgsc.bcm.edu	37	7	47944905	47944905	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:47944905T>A	ENST00000289672.2	-	11	1590	c.1540A>T	c.(1540-1542)Aat>Tat	p.N514Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	514	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTTCCATTTGTGTAGACA	0.443																																					p.N514Y		Atlas-SNP	.											.	PKD1L1	328	.	0			c.A1540T						PASS	.						139.0	128.0	132.0					7																	47944905		2203	4300	6503	SO:0001583	missense	168507	exon11			TTCCATTTGTGTA	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1540A>T	chr7.hg19:g.47944905T>A	ENSP00000289672:p.Asn514Tyr	221.0	0.0	.		174.0	37.0	.	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518459	0.64634	.	.	ENSG00000158683	ENST00000289672	T	0.69435	-0.4	5.38	5.38	0.77491	PKD/Chitinase domain (1);	0.178382	0.36519	N	0.002559	T	0.72260	0.3438	L	0.29908	0.895	0.32501	N	0.53884	D	0.89917	1.0	D	0.75484	0.986	T	0.78435	-0.2205	10	0.59425	D	0.04	-24.3676	13.6779	0.62465	0.0:0.0:0.0:1.0	.	514	Q8TDX9	PK1L1_HUMAN	Y	514	ENSP00000289672:N514Y	ENSP00000289672:N514Y	N	-	1	0	PKD1L1	47911430	0.998000	0.40836	0.991000	0.47740	0.970000	0.65996	2.029000	0.41098	2.185000	0.69588	0.529000	0.55759	AAT	.	.	.	none		0.443	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ZKSCAN5	23660	hgsc.bcm.edu	37	7	99129235	99129235	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:99129235G>A	ENST00000394170.2	+	7	2134	c.1883G>A	c.(1882-1884)aGt>aAt	p.S628N	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S628N|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S628N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTGCACAGTGGGGAGAGA	0.557																																					p.S628N		Atlas-SNP	.											.	ZKSCAN5	63	.	0			c.G1883A						PASS	.						80.0	70.0	74.0					7																	99129235		2203	4300	6503	SO:0001583	missense	23660	exon7			TGCACAGTGGGGA	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1883G>A	chr7.hg19:g.99129235G>A	ENSP00000377725:p.Ser628Asn	84.0	0.0	.		85.0	5.0	.	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	hg19	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852959	0.71719	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.19394	2.15;2.15;2.15	5.23	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.091827	0.48767	D	0.000175	T	0.29389	0.0732	L	0.46885	1.475	0.35690	D	0.814761	P;P	0.49185	0.92;0.92	P;P	0.53313	0.598;0.723	T	0.14090	-1.0485	10	0.52906	T	0.07	.	11.8173	0.52218	0.0:0.2653:0.7347:0.0	.	628;628	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	N	628	ENSP00000322872:S628N;ENSP00000392104:S628N;ENSP00000377725:S628N	ENSP00000322872:S628N	S	+	2	0	ZKSCAN5	98967171	0.999000	0.42202	0.986000	0.45419	0.987000	0.75469	3.694000	0.54742	2.894000	0.99253	0.591000	0.81541	AGT	.	.	.	none		0.557	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
VGF	7425	hgsc.bcm.edu	37	7	100806695	100806695	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:100806695T>A	ENST00000249330.2	-	2	1669	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	VGF_ENST00000445482.2_Missense_Mutation_p.E477V	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	477					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCTTCTCCTCCACCTCCTC	0.697																																					p.E477V		Atlas-SNP	.											.	VGF	29	.	0			c.A1430T						PASS	.						58.0	61.0	60.0					7																	100806695		2203	4300	6503	SO:0001583	missense	7425	exon2			TTCTCCTCCACCT	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1430A>T	chr7.hg19:g.100806695T>A	ENSP00000249330:p.Glu477Val	73.0	0.0	.		56.0	15.0	.	NM_003378	Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	hg19	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386102	0.61956	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	4.41	4.41	0.53225	.	0.000000	0.48286	U	0.000186	T	0.56307	0.1976	N	0.24115	0.695	0.40841	D	0.983675	D	0.76494	0.999	D	0.80764	0.994	T	0.61720	-0.7005	9	0.87932	D	0	-7.6164	10.0532	0.42228	0.0:0.0:0.0:1.0	.	477	O15240	VGF_HUMAN	V	477	.	ENSP00000249330:E477V	E	-	2	0	VGF	100593415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.280000	0.51677	1.650000	0.50662	0.449000	0.29647	GAG	.	.	.	none		0.697	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378	
TBXAS1	6916	hgsc.bcm.edu	37	7	139719838	139719838	+	Nonstop_Mutation	SNP	T	T	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:139719838T>C	ENST00000411653.1	+	12	1505	c.1378T>C	c.(1378-1380)Tag>Cag	p.*460Q	TBXAS1_ENST00000425687.1_Missense_Mutation_p.L447P|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L561P|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L515P|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L514P|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L515P|TBXAS1_ENST00000414508.2_Nonstop_Mutation_p.*461Q|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L514P|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L560P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	0					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCGCTGCAGCTAGAATCCAAA	0.453																																					p.X461Q		Atlas-SNP	.											.	TBXAS1	121	.	0			c.T1381C						PASS	.						86.0	87.0	86.0					7																	139719838		2203	4300	6503	SO:0001578	stop_lost	6916	exon12			TGCAGCTAGAATC	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000411653.1:c.1378T>C	chr7.hg19:g.139719838T>C	ENSP00000411326:p.*460Glnext*6	100.0	0.0	.		79.0	4.0	.	NM_030984	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000411653.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.44|16.44	3.125072|3.125072	0.56721|0.56721	.|.	.|.	ENSG00000059377|ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000448866;ENST00000458722|ENST00000414508;ENST00000411653	T;T;T;T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.70657|.	0.3249|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.996;0.996|.	T|.	0.69914|.	-0.5016|.	9|.	0.87932|.	D|.	0|.	.|.	14.324|14.324	0.66507|0.66507	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;561;447;515;514|.	B4DVP1;E7EP08;E7ESB5;Q53F23;P24557|.	.;.;.;.;THAS_HUMAN|.	P|Q	447;515;514;561;515;514;560|461;460	ENSP00000388736:L447P;ENSP00000263552:L515P;ENSP00000338087:L514P;ENSP00000389414:L561P;ENSP00000392361:L515P;ENSP00000402536:L514P;ENSP00000411274:L560P|.	ENSP00000263552:L515P|.	L|X	+|+	2|1	0|0	TBXAS1|TBXAS1	139366307|139366307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	5.929000|5.929000	0.70096|0.70096	2.187000|2.187000	0.69744|0.69744	0.459000|0.459000	0.35465|0.35465	CTA|TAG	.	.	.	none		0.453	TBXAS1-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348377.1		
CPA6	57094	hgsc.bcm.edu	37	8	68397000	68397000	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr8:68397000G>A	ENST00000297770.4	-	7	876	c.661C>T	c.(661-663)Cca>Tca	p.P221S	CPA6_ENST00000518549.1_Missense_Mutation_p.P221S|CPA6_ENST00000297769.4_Missense_Mutation_p.P73S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	221						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTCATGGCTGGGTCACTCTTA	0.353																																					p.P221S		Atlas-SNP	.											.	CPA6	69	.	0			c.C661T						PASS	.						92.0	81.0	84.0					8																	68397000		2203	4300	6503	SO:0001583	missense	57094	exon7			TGGCTGGGTCACT	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.661C>T	chr8.hg19:g.68397000G>A	ENSP00000297770:p.Pro221Ser	74.0	0.0	.		85.0	21.0	.	NM_020361	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	hg19	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689277	0.29962	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.10860	2.83;2.83;2.83	5.25	4.36	0.52297	Peptidase M14, carboxypeptidase A (2);	0.112178	0.64402	D	0.000006	T	0.08980	0.0222	L	0.28115	0.83	0.44587	D	0.997554	P;P;B	0.48230	0.907;0.537;0.003	B;B;B	0.41691	0.364;0.203;0.013	T	0.26573	-1.0099	10	0.32370	T	0.25	.	13.3643	0.60674	0.0:0.1588:0.8412:0.0	.	221;73;221	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	S	73;221;221	ENSP00000297769:P73S;ENSP00000297770:P221S;ENSP00000431112:P221S	ENSP00000297769:P73S	P	-	1	0	CPA6	68559554	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.498000	0.66931	1.306000	0.44926	0.643000	0.83706	CCA	.	.	.	none		0.353	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
MROH1	727957	hgsc.bcm.edu	37	8	145267981	145267981	+	Intron	SNP	C	C	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr8:145267981C>T	ENST00000528919.1	+	12	1262				MROH1_ENST00000423230.2_Missense_Mutation_p.P409L|MROH1_ENST00000527071.1_Intron|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		CGTGCTGCTCCGCAGCCTGCT	0.557																																					p.P409L		Atlas-SNP	.											.	.	.	.	0			c.C1226T						PASS	.						93.0	104.0	100.0					8																	145267981		2144	4245	6389	SO:0001627	intron_variant	727957	exon13			CTGCTCCGCAGCC		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7522C>T	chr8.hg19:g.145267981C>T		134.0	0.0	.		118.0	21.0	.	NM_001099280	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	hg19	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	C	2.586	-0.296322	0.05532	.	.	ENSG00000179832	ENST00000423230	T	0.15718	2.4	0.818	-1.64	0.08318	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40627	-0.9553	8	0.13470	T	0.59	.	1.5793	0.02631	0.3347:0.385:0.0:0.2803	.	409	Q8NDA8-4	.	L	409	ENSP00000388174:P409L	ENSP00000388174:P409L	P	+	2	0	HEATR7A	145339969	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.583000	0.23849	-0.788000	0.04504	0.460000	0.39030	CCG	.	.	.	none		0.557	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450	
EDRF1	26098	hgsc.bcm.edu	37	10	127442312	127442312	+	Missense_Mutation	SNP	A	A	G	rs199695348		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr10:127442312A>G	ENST00000356792.4	+	24	3675	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.N1114S|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTAGTCTCAATCGAGAAGAA	0.393																																					p.N1148S		Atlas-SNP	.											.	C10orf137	153	.	0			c.A3443G						PASS	.						153.0	143.0	146.0					10																	127442312		2203	4300	6503	SO:0001583	missense	26098	exon24			GTCTCAATCGAGA																												ENST00000356792.4:c.3443A>G	chr10.hg19:g.127442312A>G	ENSP00000349244:p.Asn1148Ser	132.0	0.0	.		120.0	42.0	.	NM_001202438	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	8.698	0.908981	0.17833	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.42131	0.98;0.98	4.89	-2.12	0.07165	.	0.274294	0.39020	N	0.001485	T	0.14313	0.0346	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.18310	0.027;0.013;0.0	B;B;B	0.14578	0.009;0.011;0.003	T	0.26018	-1.0115	10	0.13470	T	0.59	.	6.4393	0.21841	0.5191:0.1277:0.3532:0.0	.	1148;495;1114	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	S	1148;1114	ENSP00000349244:N1148S;ENSP00000336727:N1114S	ENSP00000336727:N1114S	N	+	2	0	C10orf137	127432302	0.081000	0.21417	0.000000	0.03702	0.099000	0.18886	1.651000	0.37302	-0.178000	0.10672	-0.274000	0.10170	AAT	.	A|0.999;G|0.001	0.001	weak		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
SLCO2B1	11309	hgsc.bcm.edu	37	11	74883496	74883496	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr11:74883496G>C	ENST00000289575.5	+	7	1249	c.854G>C	c.(853-855)gGt>gCt	p.G285A	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263A|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58A|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141A|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58A|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30A|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169A	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	285					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	ATCGCTGCCGGTGCAGTGGCC	0.557																																					p.G285A		Atlas-SNP	.											.	SLCO2B1	84	.	0			c.G854C						PASS	.						93.0	81.0	85.0					11																	74883496		2200	4293	6493	SO:0001583	missense	11309	exon7			CTGCCGGTGCAGT	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.854G>C	chr11.hg19:g.74883496G>C	ENSP00000289575:p.Gly285Ala	84.0	0.0	.		103.0	30.0	.	NM_007256	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	5.226	0.227121	0.09916	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.80033	0.41;-1.33;-1.33;-1.33;-1.33;-1.33;0.41	5.65	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);	0.406164	0.30347	N	0.009837	T	0.67979	0.2951	N	0.26092	0.79	0.19945	N	0.999945	B;B;B;B	0.19935	0.019;0.04;0.016;0.008	B;B;B;B	0.26969	0.034;0.075;0.02;0.015	T	0.51545	-0.8692	10	0.16896	T	0.51	.	10.9072	0.47086	0.0:0.1411:0.7122:0.1467	.	141;30;58;285	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	A	285;58;169;30;141;58;263	ENSP00000289575:G285A;ENSP00000341286:G58A;ENSP00000434112:G169A;ENSP00000432650:G30A;ENSP00000436324:G141A;ENSP00000389653:G58A;ENSP00000388912:G263A	ENSP00000289575:G285A	G	+	2	0	SLCO2B1	74561144	0.897000	0.30589	0.001000	0.08648	0.003000	0.03518	3.898000	0.56281	0.903000	0.36546	0.655000	0.94253	GGT	.	.	.	none		0.557	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
GTSF1	121355	hgsc.bcm.edu	37	12	54857070	54857070	+	Silent	SNP	A	A	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr12:54857070A>G	ENST00000552397.1	-	4	1025	c.129T>C	c.(127-129)gaT>gaC	p.D43D	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Silent_p.D43D			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	43						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TGCTTGCAACATCAGGATGAT	0.433																																					p.D43D		Atlas-SNP	.											.	GTSF1	15	.	0			c.T129C						PASS	.						125.0	113.0	117.0					12																	54857070		2203	4300	6503	SO:0001819	synonymous_variant	121355	exon4			TGCAACATCAGGA	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.129T>C	chr12.hg19:g.54857070A>G		85.0	0.0	.		93.0	27.0	.	NM_144594	B3KQ60|Q0VGM4|Q8N778	Silent	SNP	ENST00000552397.1	hg19	CCDS8881.1																																																																																			.	.	.	none		0.433	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594	
COCH	1690	hgsc.bcm.edu	37	14	31353851	31353851	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr14:31353851A>C	ENST00000396618.3	+	9	778	c.722A>C	c.(721-723)aAt>aCt	p.N241T	COCH_ENST00000216361.4_Missense_Mutation_p.N241T|COCH_ENST00000475087.1_Missense_Mutation_p.N241T|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.N129T|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.N48T|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	241	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGAGGGGGTAATTCCAATACA	0.358																																					p.N241T		Atlas-SNP	.											.	COCH	54	.	0			c.A722C						PASS	.						69.0	72.0	71.0					14																	31353851		2203	4299	6502	SO:0001583	missense	1690	exon9			GGGGTAATTCCAA		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.722A>C	chr14.hg19:g.31353851A>C	ENSP00000379862:p.Asn241Thr	64.0	0.0	.		71.0	18.0	.	NM_004086	A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	hg19	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.373608|4.373608	0.82573|0.82573	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493	.|D;D;D;D;D;D	.|0.83075	.|-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.78|5.78	5.78|5.78	0.91487|0.91487	.|von Willebrand factor, type A (3);	.|0.040966	.|0.85682	.|D	.|0.000000	D|D	0.89114|0.89114	0.6623|0.6623	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.994;0.992;0.975	.|D;P;P	.|0.67231	.|0.95;0.87;0.819	D|D	0.88337|0.88337	0.2972|0.2972	5|10	.|0.39692	.|T	.|0.17	-22.9226|-22.9226	16.1145|16.1145	0.81295|0.81295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|48;241;241	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	L|T	81|241;241;241;123;129;129;48	.|ENSP00000216361:N241T;ENSP00000379862:N241T;ENSP00000451528:N241T;ENSP00000452569:N123T;ENSP00000451713:N129T;ENSP00000371933:N48T	.|ENSP00000216361:N241T	I|N	+|+	1|2	0|0	COCH|COCH	30423602|30423602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.474000|8.474000	0.90413|0.90413	2.205000|2.205000	0.71048|0.71048	0.454000|0.454000	0.30748|0.30748	ATT|AAT	.	.	.	none		0.358	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	
CCDC57	284001	hgsc.bcm.edu	37	17	80129603	80129603	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:80129603C>G	ENST00000389641.4	-	12	1892	c.1856G>C	c.(1855-1857)aGc>aCc	p.S619T	CCDC57_ENST00000392347.1_Missense_Mutation_p.S619T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.S619T			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	619										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGTGCGGACGCTGGGCTGAGA	0.478																																					p.S619T		Atlas-SNP	.											.	CCDC57	102	.	0			c.G1856C						PASS	.						95.0	99.0	98.0					17																	80129603		1929	4143	6072	SO:0001583	missense	284001	exon12			CGGACGCTGGGCT	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1856G>C	chr17.hg19:g.80129603C>G	ENSP00000374292:p.Ser619Thr	79.0	0.0	.		90.0	15.0	.	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	hg19		.	.	.	.	.	.	.	.	.	.	C	10.52	1.371836	0.24857	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.24538	3.02;3.02;1.85	2.92	-1.57	0.08506	.	2.029070	0.02447	N	0.085210	T	0.23846	0.0577	L	0.57536	1.79	0.09310	N	0.999995	P;P	0.44816	0.844;0.572	B;B	0.41088	0.347;0.122	T	0.19257	-1.0311	10	0.22109	T	0.4	5.4141	3.303	0.06989	0.0:0.3889:0.2116:0.3995	.	619;619	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	T	619;619;127;619	ENSP00000374292:S619T;ENSP00000376158:S619T;ENSP00000376154:S619T	ENSP00000315967:S127T	S	-	2	0	CCDC57	77722892	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.431000	0.06965	-0.298000	0.08921	0.561000	0.74099	AGC	.	.	.	none		0.478	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082	
EPB41L3	23136	hgsc.bcm.edu	37	18	5416056	5416056	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr18:5416056T>A	ENST00000341928.2	-	13	2168	c.1828A>T	c.(1828-1830)Aac>Tac	p.N610Y	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N610Y	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	610	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAGAAAGGTTGGGGAAAGAG	0.532																																					p.N610Y		Atlas-SNP	.											.	EPB41L3	222	.	0			c.A1828T						PASS	.						157.0	126.0	136.0					18																	5416056		2203	4300	6503	SO:0001583	missense	23136	exon13			AAAGGTTGGGGAA	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1828A>T	chr18.hg19:g.5416056T>A	ENSP00000343158:p.Asn610Tyr	137.0	0.0	.		138.0	37.0	.	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558267	0.45590	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.81415	-1.49;-1.49	5.74	4.55	0.56014	.	0.102804	0.64402	D	0.000003	T	0.77377	0.4121	L	0.57536	1.79	0.80722	D	1	P	0.49447	0.924	B	0.41088	0.347	T	0.78593	-0.2144	10	0.72032	D	0.01	.	12.8348	0.57767	0.0:0.0:0.1364:0.8636	.	610	Q9Y2J2	E41L3_HUMAN	Y	610	ENSP00000343158:N610Y;ENSP00000341138:N610Y	ENSP00000343158:N610Y	N	-	1	0	EPB41L3	5406056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.743000	0.62110	0.958000	0.37956	0.460000	0.39030	AAC	.	.	.	none		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
TMEM205	374882	hgsc.bcm.edu	37	19	11453637	11453637	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:11453637G>T	ENST00000354882.5	-	3	850	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	TMEM205_ENST00000586218.1_Missense_Mutation_p.Q81K|TMEM205_ENST00000586956.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000589555.1_Missense_Mutation_p.Q142K|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000588560.1_Missense_Mutation_p.Q142K|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000586590.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000593256.2_Missense_Mutation_p.Q142K|TMEM205_ENST00000447337.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000587948.1_Missense_Mutation_p.Q142K			Q6UW68	TM205_HUMAN	transmembrane protein 205	142						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTCGCAGCTGGCGGTAGGGA	0.627																																					p.Q142K		Atlas-SNP	.											.	TMEM205	14	.	0			c.C424A						PASS	.						94.0	85.0	88.0					19																	11453637		2203	4300	6503	SO:0001583	missense	374882	exon4			GCAGCTGGCGGTA	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.424C>A	chr19.hg19:g.11453637G>T	ENSP00000346954:p.Gln142Lys	111.0	0.0	.		149.0	48.0	.	NM_033408		Missense_Mutation	SNP	ENST00000354882.5	hg19	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404917	0.11754	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	3.9	0.45041	.	0.240493	0.34245	U	0.004140	T	0.34250	0.0891	L	0.36672	1.1	0.30403	N	0.779844	B	0.12013	0.005	B	0.09377	0.004	T	0.26224	-1.0109	9	0.06365	T	0.9	-4.5936	14.6711	0.68945	0.0:0.1463:0.8537:0.0	.	142	Q6UW68	TM205_HUMAN	K	142	.	ENSP00000346954:Q142K	Q	-	1	0	TMEM205	11314637	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.726000	0.54977	1.193000	0.43086	0.655000	0.94253	CAG	.	.	.	none		0.627	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536	
ZNF844	284391	hgsc.bcm.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																					p.H514D		Atlas-SNP	.											ZNF844,NS,carcinoma,0,6	ZNF844	69	.	1	Substitution - Missense(1)	endometrium(1)	c.C1540G						PASS	.						87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391	exon4			CCTTCACATCTGC	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	chr19.hg19:g.12187475C>G	ENSP00000392024:p.His514Asp	48.0	0.0	.		61.0	3.0	.	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	hg19	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT	.	.	.	none		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
ZNF844	284391	hgsc.bcm.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:12187502A>G	ENST00000439326.3	+	4	1742	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K523E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413																																					p.K523E		Atlas-SNP	.											ZNF844,bladder,carcinoma,0,3	ZNF844	69	.	1	Substitution - Missense(1)	endometrium(1)	c.A1567G						PASS	.						94.0	85.0	88.0					19																	12187502		692	1591	2283	SO:0001583	missense	284391	exon4			TGCATGAAAGGAC	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1567A>G	chr19.hg19:g.12187502A>G	ENSP00000392024:p.Lys523Glu	30.0	0.0	.		43.0	3.0	.	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	hg19	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	a	8.659	0.899999	0.17686	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.05786	3.39	2.31	-0.0571	0.13803	.	.	.	.	.	T	0.04452	0.0122	L	0.53617	1.68	0.09310	N	1	B	0.26081	0.141	B	0.15052	0.012	T	0.46638	-0.9177	9	0.05833	T	0.94	.	2.4497	0.04515	0.525:0.0:0.2647:0.2102	.	523	Q08AG5	ZN844_HUMAN	E	523	ENSP00000392024:K523E	ENSP00000392024:K523E	K	+	1	0	ZNF844	12048502	0.000000	0.05858	0.000000	0.03702	0.438000	0.31896	-0.320000	0.08028	-0.243000	0.09653	0.166000	0.16787	AAA	.	.	.	none		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
ZNF813	126017	hgsc.bcm.edu	37	19	53995130	53995130	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:53995130T>G	ENST00000396403.4	+	4	1772	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATACTGGAGATAAACCTTACA	0.378																																					p.D548E		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,0,1	ZNF813	81	.	0			c.T1644G						PASS	.						48.0	51.0	50.0					19																	53995130		2198	4297	6495	SO:0001583	missense	126017	exon4			TGGAGATAAACCT	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1644T>G	chr19.hg19:g.53995130T>G	ENSP00000379684:p.Asp548Glu	47.0	0.0	.		49.0	2.0	.	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	hg19	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.629910	0.00813	.	.	ENSG00000198346	ENST00000396403	T	0.11063	2.81	1.32	-2.63	0.06133	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.01277	-0.915	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49943	-0.8885	9	0.02654	T	1	.	7.8524	0.29462	0.0:0.0:0.5868:0.4132	.	548	Q6ZN06	ZN813_HUMAN	E	548	ENSP00000379684:D548E	ENSP00000379684:D548E	D	+	3	2	ZNF813	58686942	0.288000	0.24324	0.030000	0.17652	0.043000	0.13939	0.064000	0.14437	-1.341000	0.02225	-1.294000	0.01345	GAT	.	.	.	none		0.378	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ISOC2	79763	hgsc.bcm.edu	37	19	55966664	55966664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:55966664G>A	ENST00000425675.2	-	4	442	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	ISOC2_ENST00000438389.2_Nonsense_Mutation_p.Q58*|ISOC2_ENST00000085068.3_Nonsense_Mutation_p.Q144*			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	128					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ACATGGACCTGCAGCCCCCGG	0.662																																					p.Q144X		Atlas-SNP	.											.	ISOC2	16	.	0			c.C430T						PASS	.						32.0	34.0	33.0					19																	55966664		2203	4300	6503	SO:0001587	stop_gained	79763	exon4			GGACCTGCAGCCC	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.382C>T	chr19.hg19:g.55966664G>A	ENSP00000401726:p.Gln128*	29.0	0.0	.		28.0	5.0	.	NM_024710	Q6ZN91|Q9H5G0	Nonsense_Mutation	SNP	ENST00000425675.2	hg19	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324290	0.95708	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	3.62	2.44	0.29823	.	0.212717	0.38436	N	0.001695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-16.1072	10.4505	0.44520	0.0:0.2009:0.7991:0.0	.	.	.	.	X	144;128;58	.	ENSP00000085068:Q144X	Q	-	1	0	ISOC2	60658476	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.156000	0.50708	1.977000	0.57605	0.486000	0.48141	CAG	.	.	.	none		0.662	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710	
PTPRT	11122	hgsc.bcm.edu	37	20	41306544	41306544	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr20:41306544G>T	ENST00000373187.1	-	7	1114	c.1115C>A	c.(1114-1116)cCg>cAg	p.P372Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.P372Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.P372Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.P372Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCCCTGGCGGTCCCGTACC	0.542																																					p.P372Q		Atlas-SNP	.											.	PTPRT	372	.	0			c.C1115A						PASS	.						87.0	87.0	87.0					20																	41306544		1919	4125	6044	SO:0001583	missense	11122	exon7			CCTGGCGGTCCCG	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1115C>A	chr20.hg19:g.41306544G>T	ENSP00000362283:p.Pro372Gln	124.0	0.0	.		150.0	42.0	.	NM_007050	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737618	0.49045	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.56746	0.971;0.977	P;P	0.55391	0.775;0.772	T	0.78523	-0.2171	10	0.28530	T	0.3	.	19.1814	0.93625	0.0:0.0:1.0:0.0	.	372;372	O14522-1;O14522	.;PTPRT_HUMAN	Q	372	ENSP00000362286:P372Q;ENSP00000362283:P372Q;ENSP00000362289:P372Q;ENSP00000348408:P372Q;ENSP00000362294:P372Q;ENSP00000362280:P372Q;ENSP00000362297:P372Q	ENSP00000348408:P372Q	P	-	2	0	PTPRT	40739958	1.000000	0.71417	0.973000	0.42090	0.948000	0.59901	5.469000	0.66749	2.705000	0.92388	0.655000	0.94253	CCG	.	.	.	none		0.542	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
MBNL3	55796	hgsc.bcm.edu	37	X	131540269	131540269	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:131540269T>A	ENST00000370853.3	-	2	407	c.329A>T	c.(328-330)cAa>cTa	p.Q110L	MBNL3_ENST00000370849.3_Missense_Mutation_p.Q60L|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q14L|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q14L|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q110L|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q110L|MBNL3_ENST00000538204.1_Missense_Mutation_p.Q60L|MBNL3_ENST00000473364.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	110					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TGATGACATTTGAGCGTTTTG	0.453																																					p.Q110L		Atlas-SNP	.											.	MBNL3	62	.	0			c.A329T						PASS	.						144.0	116.0	125.0					X																	131540269		2203	4300	6503	SO:0001583	missense	55796	exon2			GACATTTGAGCGT	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.329A>T	chrX.hg19:g.131540269T>A	ENSP00000359890:p.Gln110Leu	180.0	0.0	.		183.0	62.0	.	NM_018388	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	hg19	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534641	0.27475	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.57	5.57	0.84162	.	0.086244	0.49916	D	0.000138	T	0.46328	0.1387	M	0.66939	2.045	0.49483	D	0.999793	B;B;B;P;P	0.35272	0.404;0.246;0.246;0.454;0.493	B;B;B;B;B	0.42771	0.287;0.346;0.286;0.397;0.157	T	0.38373	-0.9664	10	0.07644	T	0.81	-4.1668	14.7499	0.69516	0.0:0.0:0.0:1.0	.	60;110;110;60;14	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	L	14;60;110;110;60;110;14;14;14	ENSP00000377848:Q14L;ENSP00000439618:Q60L;ENSP00000359894:Q110L;ENSP00000359890:Q110L;ENSP00000359886:Q60L;ENSP00000359876:Q110L;ENSP00000359881:Q14L;ENSP00000406014:Q14L;ENSP00000402128:Q14L	ENSP00000359876:Q110L	Q	-	2	0	MBNL3	131367950	1.000000	0.71417	0.905000	0.35620	0.731000	0.41821	4.662000	0.61525	1.864000	0.54056	0.486000	0.48141	CAA	.	.	.	none		0.453	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388	
RGAG1	57529	hgsc.bcm.edu	37	X	109695056	109695056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:109695056delG	ENST00000465301.2	+	3	1457	c.1211delG	c.(1210-1212)agafs	p.R404fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.R404fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	404										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCACCAGTAAGAGCTTTAGAT	0.502																																					p.R404fs		Atlas-INDEL	.											.	RGAG1	168	.	0			c.1210delA						PASS	.						195.0	202.0	200.0					X																	109695056		2203	4300	6503	SO:0001589	frameshift_variant	57529	exon3			.	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1211delG	chrX.hg19:g.109695056delG	ENSP00000419786:p.Arg404fs	585.0	0.0	0		661.0	185.0	0.279879	NM_020769	Q9P2M8	Frame_Shift_Del	DEL	ENST00000465301.2	hg19	CCDS14552.1																																																																																			.	.	.	none		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
ATP6AP1	537	hgsc.bcm.edu	37	X	153657422	153657422	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:153657422C>A	ENST00000369762.2	+	2	251	c.190C>A	c.(190-192)Cat>Aat	p.H64N		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	64					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCGACACTCATGAAGGCCA	0.617																																					p.H64N		Atlas-SNP	.											.	ATP6AP1	46	.	0			c.C190A						PASS	.						87.0	75.0	79.0					X																	153657422		2203	4300	6503	SO:0001583	missense	537	exon2			GACACTCATGAAG	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.190C>A	chrX.hg19:g.153657422C>A	ENSP00000358777:p.His64Asn	137.0	0.0	.		130.0	33.0	.	NM_001183	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	hg19	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756732	0.49362	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556	.	.	.	4.74	4.74	0.60224	.	0.240499	0.42420	D	0.000718	T	0.49133	0.1539	M	0.70275	2.135	0.09310	N	0.999994	B;B	0.30439	0.279;0.178	B;B	0.35813	0.18;0.211	T	0.43491	-0.9388	9	0.28530	T	0.3	-20.593	12.2641	0.54668	0.0:1.0:0.0:0.0	.	24;64	B3KR70;Q15904	.;VAS1_HUMAN	N	64	.	ENSP00000358777:H64N	H	+	1	0	ATP6AP1	153310616	0.775000	0.28604	0.966000	0.40874	0.457000	0.32468	1.869000	0.39519	1.939000	0.56221	0.529000	0.55759	CAT	.	.	.	none		0.617	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183	
POLR2B	5431	hgsc.bcm.edu	37	4	57888371	57888373	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr4:57888371_57888373delAAG	ENST00000381227.1	+	19	2887_2889	c.2474_2476delAAG	c.(2473-2478)caagaa>caa	p.E827del	POLR2B_ENST00000431623.2_In_Frame_Del_p.E752del|POLR2B_ENST00000314595.5_In_Frame_Del_p.E827del|POLR2B_ENST00000441246.2_In_Frame_Del_p.E820del			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	827					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGATTTGATCAAGAAGAAGTTTT	0.34																																					p.825_825del		Atlas-INDEL	.											.	POLR2B	108	.	0			c.2473_2475del						PASS	.																																			SO:0001651	inframe_deletion	5431	exon18			.		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2474_2476delAAG	chr4.hg19:g.57888377_57888379delAAG	ENSP00000370625:p.Glu827del	62.0	0.0	0		81.0	13.0	0.160494	NM_000938	A8K1A8|Q8IZ61	In_Frame_Del	DEL	ENST00000381227.1	hg19	CCDS3511.1																																																																																			.	.	.	none		0.340	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
CMYA5	202333	hgsc.bcm.edu	37	5	79034426	79034426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:79034426delG	ENST00000446378.2	+	2	9869	c.9838delG	c.(9838-9840)gggfs	p.G3280fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3280					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTGCAGAAGGGGAAATTTG	0.453																																					p.E3279fs		Atlas-INDEL	.											.	CMYA5	643	.	0			c.9837delA						PASS	.						104.0	100.0	101.0					5																	79034426		1865	4114	5979	SO:0001589	frameshift_variant	202333	exon2			.	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9838delG	chr5.hg19:g.79034426delG	ENSP00000394770:p.Gly3280fs	110.0	0.0	0		144.0	25.0	0.173611	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Del	DEL	ENST00000446378.2	hg19	CCDS47238.1																																																																																			.	.	.	none		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
APOB	338	hgsc.bcm.edu	37	2	21224920	21224921	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:21224920_21224921insG	ENST00000233242.1	-	29	13500_13501	c.13373_13374insC	c.(13372-13374)ccafs	p.P4458fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4458					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)					CTTTTCCATCTGGATCGGTAAG	0.396																																					p.P4458fs		Atlas-INDEL	.											.	APOB	761	.	0			c.13374_13375insC						PASS	.																																			SO:0001589	frameshift_variant	338	exon29			.	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.13374dupC	chr2.hg19:g.21224922_21224922dupG	ENSP00000233242:p.Pro4458fs	87.0	0.0	0		117.0	33.0	0.282051	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	ENST00000233242.1	hg19	CCDS1703.1																																																																																			.	.	.	none		0.396	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
