#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_ACHILLES_Lineage_Results_Top_Genes	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DLGAP2	9228	genome.wustl.edu	37	8	1601895	1601895	+	Intron	SNP	G	G	A	rs572652184		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr8:1601895G>A	ENST00000421627.2	+	6	1704					NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2						neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGCAGGGGCGGACTCCTGTA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15630	0.0		0.0	False		,,,				2504	0.001															0			8																																								1589302	SO:0001627	intron_variant	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1571-14600G>A	8.37:g.1601895G>A			1589302	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	NULL	p.P817L	ENST00000421627.2	37	c.2450	CCDS47760.1	8																																																																																			-	NULL		0.483	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133915	protein_coding	OTTHUMT00000374478.1	G	NM_004745		1589302	-1	no_start_codon:pseudogene:no_stop_codon	XM_001715423	genbank	human	model	54_36p	missense	SNP	0.000	A
MYH2	4620	genome.wustl.edu	37	17	10432209	10432209	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:10432209C>T	ENST00000245503.5	-	27	3926	c.3542G>A	c.(3541-3543)cGc>cAc	p.R1181H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1181H|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTCCCTGCGCATTTTCTG	0.592																																																0			17											74.0	80.0	78.0					17																	10432209		2203	4300	6503	10372934	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3542G>A	17.37:g.10432209C>T	ENSP00000245503:p.Arg1181His		10372934	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.R1181H	ENST00000245503.5	37	c.3542	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789525	0.90367	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83914	-1.78;-1.78	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.93671	0.7978	H	0.94771	3.58	0.58432	D	0.999992	D	0.89917	1.0	D	0.74023	0.982	D	0.94599	0.7794	10	0.56958	D	0.05	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1181	Q9UKX2	MYH2_HUMAN	H	1181	ENSP00000245503:R1181H;ENSP00000380367:R1181H	ENSP00000245503:R1181H	R	-	2	0	MYH2	10372934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.437000	0.80417	2.707000	0.92482	0.655000	0.94253	CGC	-	HMMPfam_Myosin_tail_1		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10372934	-1	no_errors	NM_001100112	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF622	90441	genome.wustl.edu	37	5	16463842	16463842	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:16463842T>C	ENST00000308683.2	-	2	761	c.635A>G	c.(634-636)gAt>gGt	p.D212G		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	212	Glu-rich.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGAATCAATATCTTCCCAATC	0.413																																																0			5											152.0	164.0	160.0					5																	16463842		2203	4300	6503	16516842	SO:0001583	missense	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.635A>G	5.37:g.16463842T>C	ENSP00000310042:p.Asp212Gly		16516842		Missense_Mutation	SNP	HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2	p.D212G	ENST00000308683.2	37	c.635	CCDS3886.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407580	0.83340	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.18	5.18	0.71444	.	0.092716	0.64402	N	0.000001	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	P	0.48294	0.908	B	0.43754	0.43	T	0.63664	-0.6586	9	0.27082	T	0.32	-3.0532	15.3358	0.74250	0.0:0.0:0.0:1.0	.	212	Q969S3	ZN622_HUMAN	G	212	.	ENSP00000310042:D212G	D	-	2	0	ZNF622	16516842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.193000	0.77780	2.068000	0.61886	0.459000	0.35465	GAT	-	NULL		0.413	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	protein_coding	OTTHUMT00000207105.1	T	NM_033414		16516842	-1	no_errors	NM_033414	genbank	human	provisional	54_36p	missense	SNP	1.000	C
AEBP2	121536	genome.wustl.edu	37	12	19609706	19609706	+	Intron	SNP	C	C	T	rs552653989		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr12:19609706C>T	ENST00000398864.3	+	2	697				AEBP2_ENST00000360995.4_Intron|AEBP2_ENST00000266508.9_Intron|AEBP2_ENST00000541908.1_Intron	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2						chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GATTTTACTTCAGTTTTAATG	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22492	0.0		0.0	False		,,,				2504	0.0															0			12																																								19500973	SO:0001627	intron_variant	728672				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.672-5738C>T	12.37:g.19609706C>T			19500973	Q59FS5|Q6ZN62|Q96BG3	RNA	SNP	-	NULL	ENST00000398864.3	37	NULL	CCDS44841.1	12																																																																																			-	-		0.438	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC728672	protein_coding	OTTHUMT00000401575.1	C	NM_153207		19500973	-1	pseudogene	XR_015580	genbank	human	model	54_36p	rna	SNP	1.000	T
SLIT2	9353	genome.wustl.edu	37	4	20555547	20555547	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr4:20555547A>G	ENST00000504154.1	+	26	2933	c.2681A>G	c.(2680-2682)gAt>gGt	p.D894G	SLIT2_ENST00000503823.1_Missense_Mutation_p.D886G|SLIT2_ENST00000273739.5_Missense_Mutation_p.D898G|SLIT2_ENST00000503837.1_Missense_Mutation_p.D890G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	894	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAATGGCAGATAAACTTTTA	0.363																																																0			4											117.0	114.0	115.0					4																	20555547		2203	4300	6503	20164645	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2681A>G	4.37:g.20555547A>G	ENSP00000422591:p.Asp894Gly		20164645	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1	p.D894G	ENST00000504154.1	37	c.2681	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299511	0.60195	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;D	0.86865	-1.24;-1.26;-1.18;-1.22;-2.18	5.27	5.27	0.74061	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	N	0.03324	-0.35	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.68277	-0.5451	10	0.23891	T	0.37	.	15.4878	0.75582	1.0:0.0:0.0:0.0	.	886;894	O94813-3;O94813	.;SLIT2_HUMAN	G	886;894;898;890;890;95	ENSP00000427548:D886G;ENSP00000422591:D894G;ENSP00000273739:D898G;ENSP00000422261:D890G;ENSP00000421975:D95G	ENSP00000273739:D898G	D	+	2	0	SLIT2	20164645	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.256000	0.72473	2.128000	0.65567	0.377000	0.23210	GAT	-	HMMSmart_SM00082,HMMPfam_LRRCT		0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	A			20164645	+1	no_errors	NM_004787	genbank	human	provisional	54_36p	missense	SNP	1.000	G
NEBL	10529	genome.wustl.edu	37	10	21185902	21185902	+	Silent	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr10:21185902C>T	ENST00000377122.4	-	2	534	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.T46T|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	46					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353																																																0			10											151.0	153.0	152.0					10																	21185902		2203	4300	6503	21225908	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.138G>A	10.37:g.21185902C>T			21225908	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.T46	ENST00000377122.4	37	c.138	CCDS7134.1	10																																																																																			-	HMMSmart_SM00227,HMMPfam_Nebulin		0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	protein_coding	OTTHUMT00000047113.1	C	NM_006393		21225908	-1	no_errors	NM_006393	genbank	human	validated	54_36p	silent	SNP	0.003	T
ATP12A	479	genome.wustl.edu	37	13	25276176	25276176	+	Missense_Mutation	SNP	G	G	A	rs34864304|rs370861260		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr13:25276176G>A	ENST00000381946.3	+	14	2152	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.R668H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	662					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R662H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATTGCACATCGCCTCAACATT	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	large_intestine(1)	13						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	199.0	161.0	174.0		2003,1985	5.4	1.0	13		174	0,8600		0,0,4300	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	668/1046,662/1040	25276176	1,13005	2203	4300	6503	24174176	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1985G>A	13.37:g.25276176G>A	ENSP00000371372:p.Arg662His		24174176	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C	p.R662H	ENST00000381946.3	37	c.1985	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876217	0.72180	2.27E-4	0.0	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99014	-5.33;-5.33	5.4	5.4	0.78164	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.64402	D	0.000002	D	0.98767	0.9585	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.946	D	0.99880	1.1111	10	0.87932	D	0	.	17.0213	0.86434	0.0:0.0:1.0:0.0	.	668;662	P54707-2;P54707	.;AT12A_HUMAN	H	668;662	ENSP00000218548:R668H;ENSP00000371372:R662H	ENSP00000218548:R668H	R	+	2	0	ATP12A	24174176	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	9.695000	0.98691	2.692000	0.91855	0.467000	0.42956	CGC	-	superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like,HMMPfam_Hydrolase		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	G	NM_001676		24174176	+1	no_errors	NM_001676	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PHF12	57649	genome.wustl.edu	37	17	27277212	27277212	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:27277212C>T	ENST00000332830.4	-	2	929	c.119G>A	c.(118-120)aGt>aAt	p.S40N	PHF12_ENST00000577226.1_Missense_Mutation_p.S40N|PHF12_ENST00000268756.3_Missense_Mutation_p.S40N	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGCTTCCGACTGCGCTTTTC	0.622																																																0			17											64.0	63.0	64.0					17																	27277212		2203	4300	6503	24301338	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.119G>A	17.37:g.27277212C>T	ENSP00000329933:p.Ser40Asn		24301338		Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SMAD/FHA domain	p.S40N	ENST00000332830.4	37	c.119	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847778	0.51164	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.51;-3.53;-3.53	4.43	4.43	0.53597	Zinc finger, FYVE/PHD-type (1);	0.090275	0.85682	D	0.000000	D	0.92110	0.7499	N	0.15975	0.35	0.80722	D	1	P;D;D;D;P	0.61697	0.948;0.97;0.969;0.99;0.948	P;P;P;P;P	0.54346	0.533;0.749;0.634;0.749;0.533	D	0.92250	0.5808	10	0.39692	T	0.17	-5.8021	16.1538	0.81644	0.0:1.0:0.0:0.0	.	22;40;40;40;40	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	N	40	ENSP00000329933:S40N;ENSP00000368157:S40N;ENSP00000268756:S40N	ENSP00000268756:S40N	S	-	2	0	PHF12	24301338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.174000	0.77620	2.442000	0.82660	0.655000	0.94253	AGT	-	NULL		0.622	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	protein_coding	OTTHUMT00000255941.1	C	NM_020889		24301338	-1	no_errors	NM_001033561	genbank	human	validated	54_36p	missense	SNP	1.000	T
KIAA0319	9856	genome.wustl.edu	37	6	24572835	24572835	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:24572835G>T	ENST00000378214.3	-	11	2350	c.1826C>A	c.(1825-1827)tCt>tAt	p.S609Y	KIAA0319_ENST00000430948.2_Missense_Mutation_p.S564Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S609Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S609Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S600Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	609	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CACAGCAGTAGACTGTTGCCT	0.453																																																0			6											138.0	116.0	123.0					6																	24572835		2203	4300	6503	24680814	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1826C>A	6.37:g.24572835G>T	ENSP00000367459:p.Ser609Tyr		24680814	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	HMMSmart_SM00765,HMMSmart_SM00060,HMMSmart_SM00089,superfamily_PKD domain	p.S609Y	ENST00000378214.3	37	c.1826	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873304	0.33069	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.100923	0.48767	D	0.000178	D	0.86381	0.5919	M	0.93420	3.415	0.46044	D	0.998836	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.90223	0.4273	10	0.72032	D	0.01	-14.7468	16.9707	0.86298	0.0:0.0:1.0:0.0	.	609;600;609	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	609;600;564;609;609	ENSP00000439700:S609Y;ENSP00000442403:S600Y;ENSP00000401086:S564Y;ENSP00000367459:S609Y;ENSP00000437656:S609Y	ENSP00000367459:S609Y	S	-	2	0	KIAA0319	24680814	1.000000	0.71417	0.098000	0.21074	0.078000	0.17371	3.216000	0.51176	2.207000	0.71202	0.655000	0.94253	TCT	-	superfamily_PKD domain,HMMSmart_SM00089,HMMSmart_SM00060		0.453	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	protein_coding	OTTHUMT00000040009.1	G	NM_014809		24680814	-1	no_errors	NM_014809	genbank	human	validated	54_36p	missense	SNP	0.993	T
NOL4L	140688	genome.wustl.edu	37	20	31040143	31040143	+	Missense_Mutation	SNP	G	G	A	rs371649171		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr20:31040143G>A	ENST00000359676.5	-	7	1128	c.986C>T	c.(985-987)cCt>cTt	p.P329L	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'Flank	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		329						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGCGTACACAGGGTCCTGGGA	0.632																																																0			20											155.0	132.0	140.0					20																	31040143		2203	4300	6503	30503804	SO:0001583	missense	140688																														ENST00000359676.5:c.986C>T	20.37:g.31040143G>A	ENSP00000352704:p.Pro329Leu		30503804	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	PatternScan_ILVD_EDD_1	p.P329L	ENST00000359676.5	37	c.986	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870933	0.72065	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.66	4.66	0.58398	.	0.266225	0.37809	N	0.001936	T	0.52354	0.1729	L	0.59436	1.845	0.80722	D	1	P	0.42518	0.782	B	0.37144	0.242	T	0.53315	-0.8456	9	0.20519	T	0.43	-2.4671	17.3569	0.87338	0.0:0.0:1.0:0.0	.	329	Q96MY1	CT112_HUMAN	L	329	.	ENSP00000352704:P329L	P	-	2	0	C20orf112	30503804	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	6.786000	0.75094	2.423000	0.82170	0.561000	0.74099	CCT	-	NULL		0.632	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	protein_coding	OTTHUMT00000078628.2	G			30503804	-1	no_errors	NM_080616	genbank	human	validated	54_36p	missense	SNP	1.000	A
GOLGA8A	23015	genome.wustl.edu	37	15	34782512	34782512	+	Intron	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr15:34782512C>T	ENST00000543376.1	-	8	1158							A7E2F4	GOG8A_HUMAN	golgin A8 family, member A							Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TAGCTCACGGCGTTGCAAGCC	0.542																																																0			15																																								32569804	SO:0001627	intron_variant	644390			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000543376.1:c.1596+47032G>A	15.37:g.34782512C>T			32569804	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	RNA	SNP	-	NULL	ENST00000543376.1	37	NULL		15																																																																																			-	-		0.542	GOLGA8A-203	KNOWN	basic|appris_candidate	protein_coding	LOC644390	protein_coding		C	NM_181076		32569804	-1	pseudogene	XR_016623	genbank	human	model	54_36p	rna	SNP	0.994	T
ZFP69	339559	genome.wustl.edu	37	1	40960830	40960830	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:40960830G>T	ENST00000372706.1	+	6	1686	c.680G>T	c.(679-681)gGg>gTg	p.G227V	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.G227V			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AACAAATTTGGGGAAAATATC	0.348																																																0			1											64.0	64.0	64.0					1																	40960830		2203	4299	6502	40733417	SO:0001583	missense	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.680G>T	1.37:g.40960830G>T	ENSP00000361791:p.Gly227Val		40733417	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G227V	ENST00000372706.1	37	c.680	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	G	1.782	-0.481629	0.04383	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05199	3.48;3.48	4.44	0.114	0.14639	.	0.728966	0.11858	N	0.522647	T	0.08358	0.0208	M	0.75150	2.29	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.29610	-1.0006	10	0.54805	T	0.06	0.1446	4.5359	0.12028	0.1844:0.0:0.2842:0.5314	.	227	Q49AA0	ZN642_HUMAN	V	227	ENSP00000361791:G227V;ENSP00000361790:G227V	ENSP00000361790:G227V	G	+	2	0	ZNF642	40733417	0.834000	0.29399	0.060000	0.19600	0.068000	0.16541	0.698000	0.25571	0.034000	0.15491	-0.311000	0.09066	GGG	-	NULL		0.348	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF642	protein_coding	OTTHUMT00000019082.1	G	NM_198494		40733417	+1	no_errors	NM_198494	genbank	human	validated	54_36p	missense	SNP	0.002	T
NPHS1	4868	genome.wustl.edu	37	19	36322249	36322249	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr19:36322249G>A	ENST00000378910.5	-	26	3335	c.3336C>T	c.(3334-3336)aaC>aaT	p.N1112N	NPHS1_ENST00000353632.6_Silent_p.N1072N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1112					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATATTCGTTCCTGACTC	0.632																																																0			19											100.0	94.0	96.0					19																	36322249		2203	4300	6503	41014089	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3336C>T	19.37:g.36322249G>A			41014089	A6NDH2|C3RX61	Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.N1112	ENST00000378910.5	37	c.3336	CCDS32996.1	19																																																																																			-	NULL		0.632	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	G			41014089	-1	no_errors	NM_004646	genbank	human	validated	54_36p	silent	SNP	0.996	A
LRRC73	221424	genome.wustl.edu	37	6	43477440	43477440	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:43477440G>A	ENST00000372441.1	-	1	984	c.84C>T	c.(82-84)aaC>aaT	p.N28N		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	28																	GGCGCACGGCGTTGTCGCGAA	0.736																																																0			6											6.0	7.0	7.0					6																	43477440		2086	4105	6191	43585418	SO:0001819	synonymous_variant	221424				CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.84C>T	6.37:g.43477440G>A			43585418		Silent	SNP	superfamily_SSF52047	p.N28	ENST00000372441.1	37	c.84	CCDS34456.1	6																																																																																			-	superfamily_SSF52047		0.736	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C6orf154	protein_coding	OTTHUMT00000040635.1	G	NM_001012974		43585418	-1	no_errors	NM_001012974	genbank	human	predicted	54_36p	silent	SNP	1.000	A
TTLL6	284076	genome.wustl.edu	37	17	46847347	46847347	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:46847347G>A	ENST00000393382.3	-	14	2294	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	TTLL6_ENST00000433608.2_Missense_Mutation_p.T411M	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CACCCTGTCCGTCTCTGGGCC	0.512																																																0			17											71.0	74.0	73.0					17																	46847347		2203	4300	6503	44202346	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2153C>T	17.37:g.46847347G>A	ENSP00000377043:p.Thr718Met		44202346		Missense_Mutation	SNP	HMMPfam_TTL	p.T396M	ENST00000393382.3	37	c.1187	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739545	0.03088	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.26	-0.865	0.10662	.	754.542000	0.00166	N	0.000000	T	0.14442	0.0349	N	0.02142	-0.665	0.09310	N	1	B;B	0.20887	0.008;0.049	B;B	0.09377	0.004;0.004	T	0.10636	-1.0621	9	0.29301	T	0.29	.	4.2181	0.10544	0.4508:0.1964:0.3528:0.0	.	670;411	Q8N841;G5E937	TTLL6_HUMAN;.	M	718;411;396;670	.	ENSP00000302547:T411M	T	-	2	0	TTLL6	44202346	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.039000	0.13884	-0.270000	0.09285	-1.004000	0.02495	ACG	-	NULL		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	protein_coding	OTTHUMT00000346939.3	G	NM_173623		44202346	-1	no_errors	NM_173623	genbank	human	validated	54_36p	missense	SNP	0.000	A
ABCC3	8714	genome.wustl.edu	37	17	48742574	48742574	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:48742574G>A	ENST00000285238.8	+	11	1479	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ABCC3_ENST00000427699.1_Missense_Mutation_p.G467R	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	467	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCACTCAACGGAGCTGTGGC	0.607																																																0			17											140.0	102.0	115.0					17																	48742574		2203	4300	6503	46097573	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1399G>A	17.37:g.48742574G>A	ENSP00000285238:p.Gly467Arg		46097573	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.G467R	ENST00000285238.8	37	c.1399	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058883	0.76074	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.91686	-2.89;-2.55	4.47	3.47	0.39725	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.317736	0.26887	N	0.021996	D	0.93795	0.8016	M	0.72576	2.205	0.39222	D	0.963522	D;D	0.63046	0.992;0.978	P;P	0.56127	0.792;0.651	D	0.94641	0.7830	10	0.87932	D	0	-0.9993	12.8743	0.57982	0.0:0.0:0.69:0.31	.	467;467	O15438;O15438-5	MRP3_HUMAN;.	R	467	ENSP00000395160:G467R;ENSP00000285238:G467R	ENSP00000285238:G467R	G	+	1	0	ABCC3	46097573	1.000000	0.71417	0.991000	0.47740	0.740000	0.42216	4.580000	0.60942	1.210000	0.43336	0.655000	0.94253	GGA	-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038		46097573	+1	no_errors	NM_003786	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
CKAP5	9793	genome.wustl.edu	37	11	46782247	46782247	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr11:46782247C>T	ENST00000529230.1	-	33	4355	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K	SNORD67_ENST00000390833.1_RNA|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1437K|CKAP5_ENST00000415402.1_Missense_Mutation_p.E1437K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1437K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1437					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGAGGTTTCTCTTCCACCTGT	0.473																																					Ovarian(4;85 273 2202 4844 13323)											0			11											216.0	185.0	196.0					11																	46782247		2201	4299	6500	46738823	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4309G>A	11.37:g.46782247C>T	ENSP00000432768:p.Glu1437Lys		46738823	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT	p.E1437K	ENST00000529230.1	37	c.4309	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419776	0.62622	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.043640	0.85682	D	0.000000	T	0.44201	0.1282	L	0.29908	0.895	0.58432	D	0.999998	D;D;P	0.60575	0.988;0.972;0.953	P;P;P	0.53861	0.736;0.673;0.473	T	0.09997	-1.0649	10	0.06891	T	0.86	-14.0721	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1437;1437;1437	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	K	1437;1437;1437;1437;160	ENSP00000432768:E1437K;ENSP00000395302:E1437K;ENSP00000310227:E1437K;ENSP00000346566:E1437K	ENSP00000310227:E1437K	E	-	1	0	CKAP5	46738823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.854000	0.98071	0.655000	0.94253	GAG	-	NULL		0.473	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46738823	-1	no_errors	NM_001008938	genbank	human	validated	54_36p	missense	SNP	1.000	T
TFAP2B	7021	genome.wustl.edu	37	6	50811098	50811098	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:50811098G>A	ENST00000393655.3	+	7	1545	c.1376G>A	c.(1375-1377)aGg>aAg	p.R459K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R468K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	459				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGAAACACAGGAAATGAAAA	0.348																																					Pancreas(116;1373 2332 5475 10752)											0			6											28.0	29.0	29.0					6																	50811098		2195	4274	6469	50919057	SO:0001583	missense	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1376G>A	6.37:g.50811098G>A	ENSP00000377265:p.Arg459Lys		50919057	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	HMMPfam_TF_AP-2	p.R459K	ENST00000393655.3	37	c.1376	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144419	0.77888	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98044	-4.66;-4.68	4.64	4.64	0.57946	.	0.054502	0.64402	D	0.000001	D	0.97895	0.9308	M	0.78801	2.425	0.58432	D	0.999996	P	0.44690	0.841	P	0.54210	0.745	D	0.98252	1.0494	10	0.49607	T	0.09	-9.9386	17.5178	0.87779	0.0:0.0:1.0:0.0	.	459	Q92481	AP2B_HUMAN	K	459;468	ENSP00000377265:R459K;ENSP00000263046:R468K	ENSP00000263046:R468K	R	+	2	0	TFAP2B	50919057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.132000	0.65825	0.655000	0.94253	AGG	-	NULL		0.348	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	protein_coding	OTTHUMT00000040886.3	G	NM_003221		50919057	+1	no_errors	NM_003221	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LPCAT2	54947	genome.wustl.edu	37	16	55579714	55579714	+	Missense_Mutation	SNP	G	G	A	rs141449615		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr16:55579714G>A	ENST00000262134.5	+	9	1104	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	307					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AATAAAGTCCGGAATTTAATG	0.284													G|||	1	0.000199681	0.0	0.0	5008	,	,		17499	0.0		0.0	False		,,,				2504	0.001															0			16						G	GLN/ARG	0,4396		0,0,2198	96.0	95.0	95.0		920	6.0	1.0	16	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	yes	missense	LPCAT2	NM_017839.4	43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	307/545	55579714	1,12993	2198	4299	6497	54137215	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.920G>A	16.37:g.55579714G>A	ENSP00000262134:p.Arg307Gln		54137215	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.R307Q	ENST00000262134.5	37	c.920	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.283000	0.95489	0.0	1.16E-4	ENSG00000087253	ENST00000262134	D	0.93189	-3.18	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.72624	2.21	0.80722	D	1	D	0.61080	0.989	P	0.53313	0.723	D	0.94431	0.7649	10	0.48119	T	0.1	-26.6955	20.1358	0.98028	0.0:0.0:1.0:0.0	.	307	Q7L5N7	PCAT2_HUMAN	Q	307	ENSP00000262134:R307Q	ENSP00000262134:R307Q	R	+	2	0	LPCAT2	54137215	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	8.225000	0.89784	2.865000	0.98341	0.655000	0.94253	CGG	-	superfamily_Glycerol-3-phosphate (1)-acyltransferase		0.284	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	protein_coding	OTTHUMT00000256977.2	G	NM_017839		54137215	+1	no_errors	NM_017839	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM120C	54954	genome.wustl.edu	37	X	54209006	54209006	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chrX:54209006G>A	ENST00000375180.2	-	1	682	c.626C>T	c.(625-627)cCg>cTg	p.P209L	FAM120C_ENST00000328235.4_Missense_Mutation_p.P209L|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.P209L	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	209							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAGGCCCGCGGTGGAGGGGT	0.677																																																0			X											27.0	22.0	24.0					X																	54209006		2199	4287	6486	54225731	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.626C>T	X.37:g.54209006G>A	ENSP00000364324:p.Pro209Leu		54225731	B2RMT7	Missense_Mutation	SNP	NULL	p.P209L	ENST00000375180.2	37	c.626	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	g	20.7	4.030838	0.75504	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.74002	-0.8;-0.8;-0.8	3.62	1.78	0.24846	.	0.270941	0.35970	N	0.002877	T	0.80439	0.4623	L	0.61218	1.895	0.58432	D	0.999999	D;B;D	0.89917	0.999;0.06;1.0	D;B;D	0.91635	0.967;0.017;0.999	T	0.76599	-0.2900	10	0.54805	T	0.06	-4.1336	6.6222	0.22810	0.1041:0.0:0.7189:0.177	.	209;209;209	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	L	209	ENSP00000364324:P209L;ENSP00000329896:P209L;ENSP00000420718:P209L	ENSP00000329896:P209L	P	-	2	0	FAM120C	54225731	1.000000	0.71417	0.914000	0.36105	0.991000	0.79684	7.254000	0.78329	0.198000	0.20407	0.513000	0.50165	CCG	-	NULL		0.677	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	G	NM_017848		54225731	-1	no_errors	NM_017848	genbank	human	validated	54_36p	missense	SNP	1.000	A
CLPX	10845	genome.wustl.edu	37	15	65471338	65471338	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr15:65471338T>C	ENST00000300107.3	-	3	480	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	98					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTCCACCTTTCCCAGAATTC	0.403																																																0			15											122.0	112.0	115.0					15																	65471338		2202	4299	6501	63258391	SO:0001583	missense	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.292A>G	15.37:g.65471338T>C	ENSP00000300107:p.Lys98Glu		63258391	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_2,HMMSmart_SM00382,HMMPfam_ClpB_D2-small	p.K98E	ENST00000300107.3	37	c.292	CCDS10202.1	15	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532561	0.85812	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.28454	1.61	5.14	4.02	0.46733	.	0.046926	0.85682	N	0.000000	T	0.25938	0.0632	L	0.42245	1.32	0.53005	D	0.999961	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.003	T	0.04017	-1.0984	10	0.38643	T	0.18	.	10.7813	0.46379	0.0:0.0739:0.0:0.9261	.	98;98	Q9H072;O76031	.;CLPX_HUMAN	E	98	ENSP00000300107:K98E	ENSP00000300107:K98E	K	-	1	0	CLPX	63258391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	0.983000	0.38602	0.533000	0.62120	AAA	-	NULL		0.403	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	protein_coding	OTTHUMT00000256828.2	T	NM_006660		63258391	-1	no_errors	NM_006660	genbank	human	provisional	54_36p	missense	SNP	1.000	C
PARP16	54956	genome.wustl.edu	37	15	65559014	65559014	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr15:65559014G>A	ENST00000261888.6	-	3	850	c.405C>T	c.(403-405)aaC>aaT	p.N135N	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	135	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.N135N(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AAAATTTGGCGTTGGCTGGGT	0.453																																					NSCLC(50;885 1163 13509 21242 41978)											1	Substitution - coding silent(1)	lung(1)	15											130.0	120.0	123.0					15																	65559014		2201	4299	6500	63346067	SO:0001819	synonymous_variant	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.405C>T	15.37:g.65559014G>A			63346067	Q6PK64|Q9NX03	Silent	SNP	HMMPfam_PARP,superfamily_SSF56399	p.N135	ENST00000261888.6	37	c.405	CCDS10204.1	15																																																																																			-	HMMPfam_PARP,superfamily_SSF56399		0.453	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP16	protein_coding	OTTHUMT00000256827.2	G	NM_017851		63346067	-1	no_errors	NM_017851	genbank	human	provisional	54_36p	silent	SNP	0.968	A
Unknown	0	genome.wustl.edu	37	4	69492618	69492618	+	IGR	SNP	G	G	C	rs140192333	byFrequency	TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr4:69492618G>C								UGT2B17 (58373 upstream) : UGT2B15 (19729 downstream)																							TCGACATTTGGTAAGGGTGGG	0.383													G|||	149	0.0297524	0.003	0.0562	5008	,	,		15350	0.001		0.0825	False		,,,				2504	0.0225															0			4																																								69175213	SO:0001628	intergenic_variant	728807																															4.37:g.69492618G>C			69175213		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.383					LOC728807			G			69175213	-1	pseudogene	XR_042341	genbank	human	model	54_36p	rna	SNP	0.999	C
SIPA1L1	26037	genome.wustl.edu	37	14	72200444	72200444	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr14:72200444G>A	ENST00000555818.1	+	19	5334	c.4986G>A	c.(4984-4986)atG>atA	p.M1662I	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.M1116I|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.M1641I|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.M1641I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1662					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCAGCCTATGCCCGACCCTG	0.587																																																0			14											97.0	84.0	89.0					14																	72200444		2203	4300	6503	71270197	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4986G>A	14.37:g.72200444G>A	ENSP00000450832:p.Met1662Ile		71270197	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.M1662I	ENST00000555818.1	37	c.4986	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111537	0.37242	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.09	2.19	0.27852	.	0.343142	0.37053	N	0.002265	T	0.34454	0.0898	L	0.36672	1.1	0.40923	D	0.984323	B;B;B;P;D	0.55172	0.178;0.0;0.014;0.631;0.97	B;B;B;B;P	0.58577	0.057;0.0;0.03;0.31;0.841	T	0.04229	-1.0967	10	0.16420	T	0.52	-9.7712	11.1005	0.48170	0.0:0.1242:0.6178:0.258	.	1116;1662;1116;1641;1662	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	I	1641;1662;1641;1116	ENSP00000370630:M1641I;ENSP00000450832:M1662I;ENSP00000351352:M1641I;ENSP00000440682:M1116I	ENSP00000351352:M1662I	M	+	3	0	SIPA1L1	71270197	0.993000	0.37304	0.994000	0.49952	0.915000	0.54546	0.395000	0.20850	0.240000	0.21263	0.561000	0.74099	ATG	-	NULL		0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	G	NM_015556		71270197	+1	no_errors	NM_015556	genbank	human	provisional	54_36p	missense	SNP	1.000	A
LOC646127	646127	genome.wustl.edu	37	X	74547740	74547740	+	IGR	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chrX:74547740C>T								UPRT (23305 upstream) : ZDHHC15 (40521 downstream)																							TCCTGGCACTCGAACTGCTCC	0.652																																																0			X																																								74464465	SO:0001628	intergenic_variant	0																															X.37:g.74547740C>T			74464465		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.652					LOC646127			C			74464465	-1	pseudogene	XR_037591	genbank	human	model	54_36p	rna	SNP	0.003	T
TMEM45A	55076	genome.wustl.edu	37	3	100274161	100274161	+	Silent	SNP	C	C	A	rs201699180		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr3:100274161C>A	ENST00000323523.4	+	2	419	c.106C>A	c.(106-108)Cga>Aga	p.R36R	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000403410.1_Silent_p.R52R	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	36						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAAGCAAAAGCGAACCTGCTA	0.388																																																0			3											182.0	186.0	185.0					3																	100274161		2203	4300	6503	101756851	SO:0001819	synonymous_variant	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.106C>A	3.37:g.100274161C>A			101756851	Q53YW5	Silent	SNP	HMMPfam_DUF716	p.R36	ENST00000323523.4	37	c.106	CCDS2937.1	3																																																																																			-	NULL		0.388	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	protein_coding	OTTHUMT00000317571.1	C	NM_018004		101756851	+1	no_errors	NM_018004	genbank	human	provisional	54_36p	silent	SNP	0.416	A
PKD2L1	9033	genome.wustl.edu	37	10	102057289	102057289	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr10:102057289C>T	ENST00000318222.3	-	5	1188	c.806G>A	c.(805-807)gGc>gAc	p.G269D	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.G269D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	269					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAGGTAGTAGCCACCTCCGCT	0.627																																																0			10											56.0	51.0	53.0					10																	102057289		2203	4300	6503	102047279	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.806G>A	10.37:g.102057289C>T	ENSP00000325296:p.Gly269Asp		102047279	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels	p.G269D	ENST00000318222.3	37	c.806	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611260	0.87258	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	D;D	0.83075	-1.68;-1.68	5.53	4.63	0.57726	Polycystin cation channel, PKD1/PKD2 (1);	0.098804	0.64402	D	0.000001	D	0.92599	0.7649	M	0.92833	3.35	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93818	0.7116	10	0.72032	D	0.01	-12.0702	13.2132	0.59836	0.0:0.9235:0.0:0.0765	.	222;269	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	269	ENSP00000266049:G269D;ENSP00000325296:G269D	ENSP00000325296:G269D	G	-	2	0	PKD2L1	102047279	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	6.029000	0.70895	1.330000	0.45394	0.561000	0.74099	GGC	-	HMMPfam_PKD_channel		0.627	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102047279	-1	no_errors	NM_016112	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GUCY2F	2986	genome.wustl.edu	37	X	108647661	108647661	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chrX:108647661C>T	ENST00000218006.2	-	10	2312	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACACAGTTTCGAGACTTTAG	0.388																																																0			X											165.0	147.0	153.0					X																	108647661		2203	4300	6503	108534317	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2021G>A	X.37:g.108647661C>T	ENSP00000218006:p.Arg674Gln		108534317	Q9UJF1	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1	p.R674Q	ENST00000218006.2	37	c.2021	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319809	0.81469	.	.	ENSG00000101890	ENST00000218006	D	0.87334	-2.24	4.35	3.49	0.39957	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058247	0.64402	D	0.000003	D	0.88459	0.6442	M	0.70842	2.15	0.52099	D	0.999946	P	0.51791	0.948	P	0.52031	0.688	D	0.86728	0.1946	10	0.39692	T	0.17	.	9.6611	0.39956	0.0:0.8942:0.0:0.1058	.	674	P51841	GUC2F_HUMAN	Q	674	ENSP00000218006:R674Q	ENSP00000218006:R674Q	R	-	2	0	GUCY2F	108534317	0.994000	0.37717	0.948000	0.38648	0.989000	0.77384	3.211000	0.51137	1.195000	0.43115	0.529000	0.55759	CGA	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	protein_coding	OTTHUMT00000057884.1	C	NM_001522		108534317	-1	no_errors	NM_001522	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TBX3	6926	genome.wustl.edu	37	12	115112565	115112565	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr12:115112565G>A	ENST00000257566.3	-	7	1564	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	TBX3_ENST00000349155.2_Missense_Mutation_p.A372V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	392					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GATCTTGGCCGCGTCGCAGGC	0.652																																																0			12											11.0	12.0	12.0					12																	115112565		2186	4284	6470	113596948	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1175C>T	12.37:g.115112565G>A	ENSP00000257566:p.Ala392Val		113596948	Q8TB20|Q9UKF8	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2	p.A392V	ENST00000257566.3	37	c.1175	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538155	0.65085	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87650	-2.28;-2.27	4.99	3.88	0.44766	Transcription factor, T-box, region of unknown function (1);	0.815131	0.10259	N	0.696160	T	0.79936	0.4532	N	0.22421	0.69	0.31465	N	0.669146	B;B	0.27416	0.007;0.178	B;B	0.26094	0.016;0.066	T	0.75536	-0.3283	10	0.33141	T	0.24	.	13.3521	0.60607	0.092:0.0:0.908:0.0	.	372;392	O15119-2;O15119	.;TBX3_HUMAN	V	372;392;392	ENSP00000257567:A372V;ENSP00000257566:A392V	ENSP00000257566:A392V	A	-	2	0	TBX3	113596948	0.567000	0.26626	0.993000	0.49108	0.974000	0.67602	3.590000	0.53979	2.310000	0.77875	0.591000	0.81541	GCG	-	NULL		0.652	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	protein_coding	OTTHUMT00000404947.2	G	NM_016569, NM_005996		113596948	-1	no_errors	NM_016569	genbank	human	reviewed	54_36p	missense	SNP	0.993	A
CCDC62	84660	genome.wustl.edu	37	12	123276620	123276620	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr12:123276620C>T	ENST00000253079.6	+	6	1068	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	CCDC62_ENST00000392441.4_Missense_Mutation_p.R242C|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	242					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAGATCATTCGCCTCAAGCA	0.383																																																0			12											126.0	123.0	124.0					12																	123276620		2203	4300	6503	121842573	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.724C>T	12.37:g.123276620C>T	ENSP00000253079:p.Arg242Cys		121842573	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	NULL	p.R242C	ENST00000253079.6	37	c.724	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234481	0.79800	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	T	0.59088	0.2168	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.62124	-0.6920	10	0.72032	D	0.01	-13.3602	14.4063	0.67083	0.0:1.0:0.0:0.0	.	242;242	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	C	242	ENSP00000253079:R242C;ENSP00000376236:R242C	ENSP00000253079:R242C	R	+	1	0	CCDC62	121842573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	2.529000	0.85273	0.585000	0.79938	CGC	-	NULL		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	protein_coding	OTTHUMT00000400930.1	C	NM_032573		121842573	+1	no_errors	NM_201435	genbank	human	validated	54_36p	missense	SNP	1.000	T
CFAP46	54777	genome.wustl.edu	37	10	134623928	134623928	+	Missense_Mutation	SNP	C	C	T	rs375166106		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr10:134623928C>T	ENST00000368586.5	-	57	7749	c.7649G>A	c.(7648-7650)cGa>cAa	p.R2550Q	TTC40_ENST00000263170.5_Missense_Mutation_p.R711Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCACCGCCTCGTCGCCACTC	0.632																																																0			10						C	GLN/ARG	0,4406		0,0,2203	96.0	84.0	88.0		2585	3.0	0.0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf92	NM_001200049.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	862/1028	134623928	1,13005	2203	4300	6503	134473918	SO:0001583	missense	54777																														ENST00000368586.5:c.7649G>A	10.37:g.134623928C>T	ENSP00000357575:p.Arg2550Gln		134473918		Missense_Mutation	SNP	NULL	p.R711Q	ENST00000368586.5	37	c.2132	CCDS58101.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.60|11.60	1.687098|1.687098	0.29962|0.29962	0.0|0.0	1.16E-4|1.16E-4	ENSG00000171811|ENSG00000171811	ENST00000435957|ENST00000368586;ENST00000263170	.|T;T	.|0.13089	.|2.89;2.62	2.98|2.98	2.98|2.98	0.34508|0.34508	.|.	.|35.238800	.|0.00166	.|N	.|0.000000	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.22421|0.22421	0.69|0.69	0.41313|0.41313	D|D	0.987125|0.987125	.|D	.|0.56035	.|0.974	.|B	.|0.37943	.|0.261	T|T	0.42224|0.42224	-0.9464|-0.9464	6|10	0.19590|0.42905	T|T	0.45|0.14	.|.	11.6974|11.6974	0.51551|0.51551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|711	.|Q8IYW2	.|CJ092_HUMAN	K|Q	179|2550;711	.|ENSP00000357575:R2550Q;ENSP00000263170:R711Q	ENSP00000396731:E179K|ENSP00000263170:R711Q	E|R	-|-	1|2	0|0	C10orf93|C10orf93	134473918|134473918	0.059000|0.059000	0.20769|0.20769	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	3.283000|3.283000	0.51701|0.51701	2.001000|2.001000	0.58596|0.58596	0.591000|0.591000	0.81541|0.81541	GAG|CGA	-	NULL		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf92	protein_coding	OTTHUMT00000051095.3	C			134473918	-1	no_errors	ENST00000263170	ensembl	human	known	54_36p	missense	SNP	0.001	T
LHX3	8022	genome.wustl.edu	37	9	139089515	139089515	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr9:139089515C>G	ENST00000371748.5	-	6	946	c.850G>C	c.(850-852)Ggc>Cgc	p.G284R	LHX3_ENST00000371746.3_Missense_Mutation_p.G289R	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	284					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGGGCCGGCCCAAGGCCTGG	0.667																																																0			9											10.0	12.0	11.0					9																	139089515		2192	4289	6481	138229336	SO:0001583	missense	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.850G>C	9.37:g.139089515C>G	ENSP00000360813:p.Gly284Arg		138229336	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.G289R	ENST00000371748.5	37	c.865	CCDS6994.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.405413|4.405413	0.83230|0.83230	.|.	.|.	ENSG00000107187|ENSG00000107187	ENST00000325195|ENST00000371748;ENST00000371746	.|D;D	.|0.90324	.|-2.48;-2.65	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91081|0.91081	0.7193|0.7193	L|L	0.43152|0.43152	1.355|1.355	0.53688|0.53688	D|D	0.999977|0.999977	.|P;D	.|0.52996	.|0.923;0.957	.|P;P	.|0.57502	.|0.786;0.822	D|D	0.88754|0.88754	0.3252|0.3252	7|10	0.35671|0.21014	T|T	0.21|0.42	.|.	15.7531|15.7531	0.78001|0.78001	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284;289	.|Q9UBR4;F1T0D9	.|LHX3_HUMAN;.	A|R	285|284;289	.|ENSP00000360813:G284R;ENSP00000360811:G289R	ENSP00000319224:G285A|ENSP00000360811:G289R	G|G	-|-	2|1	0|0	LHX3|LHX3	138229336|138229336	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.819000|0.819000	0.46315|0.46315	4.334000|4.334000	0.59291|0.59291	2.168000|2.168000	0.68352|0.68352	0.561000|0.561000	0.74099|0.74099	GGG|GGC	-	NULL		0.667	LHX3-001	KNOWN	basic|CCDS	protein_coding	LHX3	protein_coding	OTTHUMT00000055048.3	C			138229336	-1	no_errors	NM_014564	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PCDHA5	56143	genome.wustl.edu	37	5	140202914	140202914	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:140202914G>A	ENST00000529859.1	+	1	1554	c.1554G>A	c.(1552-1554)gcG>gcA	p.A518A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A518A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A518A|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTACGCGCTGCAGCCGC	0.697																																																0			5											46.0	53.0	50.0					5																	140202914		2201	4299	6500	140183098	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1554G>A	5.37:g.140202914G>A			140183098	O75284|Q8N4R3	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.A518	ENST00000529859.1	37	c.1554	CCDS54917.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.697	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	protein_coding	OTTHUMT00000372883.2	G	NM_018908		140183098	+1	no_errors	NM_018908	genbank	human	reviewed	54_36p	silent	SNP	0.959	A
TIMD4	91937	genome.wustl.edu	37	5	156378557	156378557	+	Silent	SNP	G	G	A	rs148564157		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:156378557G>A	ENST00000274532.2	-	3	701	c.645C>T	c.(643-645)ccC>ccT	p.P215P	TIMD4_ENST00000407087.3_Silent_p.P215P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	215						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAAGGCTCGGGAGTCAGAA	0.532																																																0			5						G	,	0,4406		0,0,2203	203.0	185.0	191.0		645,645	-1.9	0.0	5	dbSNP_134	191	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TIMD4	NM_001146726.1,NM_138379.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	215/351,215/379	156378557	2,13004	2203	4300	6503	156311135	SO:0001819	synonymous_variant	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.645C>T	5.37:g.156378557G>A			156311135	B5MCL9	Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409	p.P215	ENST00000274532.2	37	c.645	CCDS4332.1	5																																																																																			-	NULL		0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMD4	protein_coding	OTTHUMT00000252568.1	G	NM_138379		156311135	-1	no_errors	NM_138379	genbank	human	provisional	54_36p	silent	SNP	0.000	A
MPC2	25874	genome.wustl.edu	37	1	167889285	167889285	+	Silent	SNP	A	A	G	rs537213051		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:167889285A>G	ENST00000367846.4	-	4	477	c.279T>C	c.(277-279)aaT>aaC	p.N93N	MPC2_ENST00000271373.4_Silent_p.N93N	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	93					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										ACAGACTCCAATTTTTTGGAA	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		16125	0.0		0.0	False		,,,				2504	0.001															0			1											75.0	89.0	84.0					1																	167889285		2203	4300	6503	166155909	SO:0001819	synonymous_variant	25874				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.279T>C	1.37:g.167889285A>G			166155909	A8K261|Q3SXR6|Q6FIF3	Silent	SNP	HMMPfam_UPF0041	p.N93	ENST00000367846.4	37	c.279	CCDS1266.1	1																																																																																			-	HMMPfam_UPF0041		0.348	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRP44	protein_coding	OTTHUMT00000083652.1	A	NM_015415		166155909	-1	no_errors	NM_015415	genbank	human	validated	54_36p	silent	SNP	1.000	G
MYOC	4653	genome.wustl.edu	37	1	171605738	171605738	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:171605738G>T	ENST00000037502.6	-	3	913	c.842C>A	c.(841-843)aCc>aAc	p.T281N		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	281	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCTCCTGGGTGTAGGGGTA	0.532																																																0			1											89.0	86.0	87.0					1																	171605738		2203	4300	6503	169872361	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.842C>A	1.37:g.171605738G>T	ENSP00000037502:p.Thr281Asn		169872361	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.T281N	ENST00000037502.6	37	c.842	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808958	0.31961	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.88818	-2.43	5.76	5.76	0.90799	Olfactomedin-like (3);	0.136777	0.64402	D	0.000003	D	0.91243	0.7240	L	0.52759	1.655	0.40562	D	0.981221	D;D	0.76494	0.998;0.999	D;D	0.72625	0.939;0.978	D	0.88946	0.3383	10	0.31617	T	0.26	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	223;281	B4DV44;Q99972	.;MYOC_HUMAN	N	281;234;214;281	ENSP00000037502:T281N	ENSP00000037502:T281N	T	-	2	0	MYOC	169872361	1.000000	0.71417	0.742000	0.31022	0.779000	0.44077	3.350000	0.52224	2.719000	0.93026	0.555000	0.69702	ACC	-	HMMPfam_OLF,HMMSmart_SM00284		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	G	NM_000261		169872361	-1	no_errors	NM_000261	genbank	human	reviewed	54_36p	missense	SNP	0.776	T
ANKZF1	55139	genome.wustl.edu	37	2	220099649	220099649	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr2:220099649C>T	ENST00000323348.5	+	10	1480	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R226W|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R436W|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	436						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGCCCAAGCGGAGGAGGAG	0.522																																																0			2											58.0	66.0	63.0					2																	220099649		2121	4246	6367	219807893	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1306C>T	2.37:g.220099649C>T	ENSP00000321617:p.Arg436Trp		219807893	Q9NVZ4	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.R436W	ENST00000323348.5	37	c.1306	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487629	0.44249	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.29917	1.55;1.76;1.55	5.41	1.18	0.20946	.	0.211812	0.46758	D	0.000267	T	0.37210	0.0995	L	0.43152	1.355	0.40445	D	0.980087	D	0.76494	0.999	P	0.54889	0.763	T	0.31223	-0.9951	10	0.62326	D	0.03	-7.2357	13.2435	0.60010	0.5503:0.4497:0.0:0.0	.	436	Q9H8Y5	ANKZ1_HUMAN	W	436;226;436	ENSP00000321617:R436W;ENSP00000386815:R226W;ENSP00000386337:R436W	ENSP00000321617:R436W	R	+	1	2	ANKZF1	219807893	0.937000	0.31787	0.838000	0.33150	0.420000	0.31355	0.599000	0.24089	0.340000	0.23745	-0.293000	0.09583	CGG	-	NULL		0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	protein_coding	OTTHUMT00000335790.1	C	NM_018089		219807893	+1	no_errors	NM_001042410	genbank	human	validated	54_36p	missense	SNP	0.994	T
HHIPL2	79802	genome.wustl.edu	37	1	222717104	222717104	+	Missense_Mutation	SNP	C	C	T	rs147794680		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:222717104C>T	ENST00000343410.6	-	2	807	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	250					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R250H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCCAGGCGACTCCCATC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)	1						C	HIS/ARG	0,4406		0,0,2203	91.0	85.0	87.0		749	4.4	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	HHIPL2	NM_024746.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/725	222717104	1,13005	2203	4300	6503	220783727	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.749G>A	1.37:g.222717104C>T	ENSP00000342118:p.Arg250His		220783727	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	superfamily_Quino_gluc_DH	p.R250H	ENST00000343410.6	37	c.749	CCDS1530.2	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.9	4.061016	0.76074	0.0	1.16E-4	ENSG00000143512	ENST00000343410	T	0.11930	2.73	5.31	4.4	0.53042	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.055311	0.64402	D	0.000001	T	0.36663	0.0975	M	0.73962	2.25	0.50813	D	0.999898	D	0.89917	1.0	D	0.83275	0.996	T	0.13282	-1.0515	10	0.51188	T	0.08	-18.9971	13.5661	0.61819	0.0:0.9239:0.0:0.0761	.	250	Q6UWX4	HIPL2_HUMAN	H	250	ENSP00000342118:R250H	ENSP00000342118:R250H	R	-	2	0	HHIPL2	220783727	0.992000	0.36948	0.995000	0.50966	0.822000	0.46500	4.586000	0.60984	1.224000	0.43551	0.467000	0.42956	CGC	-	superfamily_Quino_gluc_DH		0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	protein_coding	OTTHUMT00000091499.2	C	NM_024746		220783727	-1	no_errors	NM_024746	genbank	human	validated	54_36p	missense	SNP	1.000	T
