#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	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_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALAS2	212	genome.wustl.edu	37	X	55039950	55039950	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572																																						dbGAP											0													57.0	48.0	51.0					X																	55039950		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1569C>A	X.37:g.55039950G>T	ENSP00000332369:p.His523Gln		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.H523Q	ENST00000330807.5	37	c.1569	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880685	0.51801	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.90324	-2.65;-2.65;-2.65	5.39	3.62	0.41486	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096119	0.64402	D	0.000001	D	0.92322	0.7564	L	0.55834	1.745	0.50039	D	0.999843	D;D;D	0.63880	0.958;0.992;0.993	D;D;D	0.69142	0.913;0.949;0.962	D	0.89226	0.3574	10	0.29301	T	0.29	-23.0971	10.4925	0.44758	0.1666:0.0:0.8334:0.0	.	486;510;523	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	523;510;486	ENSP00000332369:H523Q;ENSP00000379501:H510Q;ENSP00000337131:H486Q	ENSP00000332369:H523Q	H	-	3	2	ALAS2	55056675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.984000	0.49353	0.581000	0.29539	0.538000	0.68166	CAC	ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.572	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	38	0.00	0	G	NM_000032		55039950	55039950	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	missense	61	20.78	16	SNP	1.000	T
CD1C	911	genome.wustl.edu	37	1	158261173	158261173	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr1:158261173G>T	ENST00000368170.3	+	2	590	c.311G>T	c.(310-312)aGt>aTt	p.S104I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	104					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GACCATGCAAGTCAAGATTAC	0.368																																						dbGAP											0													90.0	89.0	89.0					1																	158261173		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.311G>T	1.37:g.158261173G>T	ENSP00000357152:p.Ser104Ile		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S104I	ENST00000368170.3	37	c.311	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	6.503|6.503	0.460946|0.460946	0.12342|0.12342	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.08008	.|3.14	3.52|3.52	-3.31|-3.31	0.04988|0.04988	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.561640	.|0.04017	.|N	.|0.299158	T|T	0.02455|0.02455	0.0075|0.0075	M|M	0.74467|0.74467	2.265|2.265	0.09310|0.09310	N|N	1|1	.|P	.|0.37141	.|0.584	.|B	.|0.25405	.|0.06	T|T	0.33033|0.33033	-0.9884|-0.9884	5|10	.|0.62326	.|D	.|0.03	.|.	1.0101|1.0101	0.01495|0.01495	0.4033:0.1548:0.284:0.1579|0.4033:0.1548:0.284:0.1579	.|.	.|104	.|P29017	.|CD1C_HUMAN	N|I	38|104	.|ENSP00000357152:S104I	.|ENSP00000357151:S104I	K|S	+|+	3|2	2|0	CD1C|CD1C	156527797|156527797	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.142000|-0.142000	0.10311|0.10311	-0.734000|-0.734000	0.04843|0.04843	-0.873000|-0.873000	0.02984|0.02984	AAG|AGT	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.368	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	335	0.00	0	G	NM_001765		158261173	158261173	+1	no_errors	ENST00000368170	ensembl	human	known	69_37n	missense	337	19.76	83	SNP	0.000	T
CHST2	9435	genome.wustl.edu	37	3	142841031	142841031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr3:142841031delT	ENST00000309575.3	+	2	2757	c.1373delT	c.(1372-1374)atgfs	p.M458fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	458					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCTGAACATGACCAGTGGC	0.602																																						dbGAP											0													66.0	59.0	61.0					3																	142841031		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1373delT	3.37:g.142841031delT	ENSP00000307911:p.Met458fs		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.M458fs	ENST00000309575.3	37	c.1373	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	25	0.00	0	T	NM_004267		142841031	142841031	+1	no_errors	ENST00000309575	ensembl	human	known	69_37n	frame_shift_del	16	71.19	42	DEL	1.000	-
CPA1	1357	genome.wustl.edu	37	7	130027699	130027699	+	Silent	SNP	C	C	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr7:130027699C>T	ENST00000011292.3	+	10	1257	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	CPA1_ENST00000484324.1_Silent_p.Y281Y	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	369					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTGGACCTACAGCCAGGGCA	0.537																																						dbGAP											0													304.0	311.0	309.0					7																	130027699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1107C>T	7.37:g.130027699C>T			A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.Y369	ENST00000011292.3	37	c.1107	CCDS5820.1	7																																																																																			CPA1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000091704		0.537	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	418	0.00	0	C	NM_001868		130027699	130027699	+1	no_errors	ENST00000011292	ensembl	human	known	69_37n	silent	216	45.75	183	SNP	0.061	T
DNHD1	144132	genome.wustl.edu	37	11	6592127	6592127	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr11:6592127G>A	ENST00000527990.2	+	40	13385	c.13385G>A	c.(13384-13386)cGc>cAc	p.R4462H	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4462H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4462					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACGTGATTCGCCAAGACGAG	0.632																																						dbGAP											0													49.0	56.0	54.0					11																	6592127		2145	4249	6394	-	-	-	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13385G>A	11.37:g.6592127G>A	ENSP00000436180:p.Arg4462His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.R4462H	ENST00000527990.2	37	c.13385	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982294	0.34942	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08370	3.1;3.1	3.92	0.667	0.17907	Dynein heavy chain (1);	0.838997	0.10576	N	0.658484	T	0.08313	0.0207	L	0.57536	1.79	0.09310	N	1	B;B;B	0.26547	0.152;0.05;0.028	B;B;B	0.15484	0.011;0.007;0.013	T	0.31558	-0.9939	10	0.56958	D	0.05	-1.0074	4.3017	0.10927	0.1601:0.0:0.6393:0.2006	.	3550;515;4462	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	H	4462;4462;730	ENSP00000254579:R4462H;ENSP00000436180:R4462H	ENSP00000254579:R4462H	R	+	2	0	DNHD1	6548703	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.052000	0.11865	0.144000	0.18951	0.563000	0.77884	CGC	DNHD1	-	pfam_Dynein_heavy	ENSG00000179532		0.632	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	44	0.00	0	G	NM_144666		6592127	6592127	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.000	A
EHBP1L1	254102	genome.wustl.edu	37	11	65349718	65349718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr11:65349718delG	ENST00000309295.4	+	9	1840	c.1575delG	c.(1573-1575)cagfs	p.Q525fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	525						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCCTGGAGCAGGGCCCTTCTG	0.642																																						dbGAP											0													15.0	17.0	16.0					11																	65349718		1921	4118	6039	-	-	-	SO:0001589	frameshift_variant	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1575delG	11.37:g.65349718delG	ENSP00000312671:p.Gln525fs		Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G526fs	ENST00000309295.4	37	c.1575	CCDS44649.1	11																																																																																			EHBP1L1	-	NULL	ENSG00000173442		0.642	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	9	0.00	0	G	XM_170658		65349718	65349718	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.999	-
FAM90A1	55138	genome.wustl.edu	37	12	8376712	8376712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr12:8376712C>A	ENST00000538603.1	-	5	781	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.E75*	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	75							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCTTCCTTTTCCCCAAAGTTC	0.547																																						dbGAP											0													80.0	97.0	91.0					12																	8376712		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.223G>T	12.37:g.8376712C>A	ENSP00000445418:p.Glu75*		D3DUU9|Q9NVZ6	Nonsense_Mutation	SNP	NULL	p.E75*	ENST00000538603.1	37	c.223	CCDS31738.1	12	.	.	.	.	.	.	.	.	.	.	.	24.1	4.493495	0.84962	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	.	.	.	0.706	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.015	.	.	.	.	.	.	.	X	75	.	ENSP00000307798:E75X	E	-	1	0	FAM90A1	8267979	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	-0.908000	0.04063	-2.116000	0.00830	-1.613000	0.00800	GAA	FAM90A1	-	NULL	ENSG00000171847		0.547	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	56	0.00	0	C	NM_018088		8376712	8376712	-1	no_errors	ENST00000307435	ensembl	human	known	69_37n	nonsense	39	18.75	9	SNP	0.000	A
FGD3	89846	genome.wustl.edu	37	9	95738899	95738900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr9:95738899_95738900insC	ENST00000375482.3	+	3	857_858	c.361_362insC	c.(361-363)accfs	p.T121fs	FGD3_ENST00000416701.2_Frame_Shift_Ins_p.T121fs|FGD3_ENST00000337352.6_Frame_Shift_Ins_p.T121fs|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	121					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q123fs*10(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCCGAAGGTCACCCCCCAGGAG	0.658																																						dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.367dupC	9.37:g.95738905_95738905dupC	ENSP00000364631:p.Thr121fs		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.Q123fs	ENST00000375482.3	37	c.361_362	CCDS43849.1	9																																																																																			FGD3	-	NULL	ENSG00000127084		0.658	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	9	0.00	0	-	NM_033086		95738899	95738900	+1	no_errors	ENST00000337352	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.000:0.000	C
FNDC4	64838	genome.wustl.edu	37	2	27717516	27717517	+	Frame_Shift_Ins	INS	-	-	G	rs375116041		TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr2:27717516_27717517insG	ENST00000264703.3	-	2	421_422	c.30_31insC	c.(28-33)cccagcfs	p.S11fs	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGGAGTCCGCTGGGGGGGGAAC	0.649																																						dbGAP											1	Insertion - Frameshift(1)	liver(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.31dupC	2.37:g.27717524_27717524dupG	ENSP00000264703:p.Ser11fs		D6W560	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S10fs	ENST00000264703.3	37	c.31_30	CCDS1756.1	2																																																																																			FNDC4	-	NULL	ENSG00000115226		0.649	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC4	HGNC	protein_coding	OTTHUMT00000215031.1	8	0.00	0	-	NM_022823		27717516	27717517	-1	no_errors	ENST00000264703	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.989:0.915	G
GYG2	8908	genome.wustl.edu	37	X	2779579	2779580	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chrX:2779579_2779580insG	ENST00000381163.3	+	9	1229_1230	c.947_948insG	c.(946-951)gtggggfs	p.VG316fs	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Frame_Shift_Ins_p.VG285fs|GYG2_ENST00000338623.5_Frame_Shift_Ins_p.VG316fs|GYG2_ENST00000542787.1_Frame_Shift_Ins_p.VG316fs	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	316					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACAGTGATGTGGGGGGGCCGT	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.954dupG	X.37:g.2779586_2779586dupG	ENSP00000370555:p.Val316fs		B7WNN6|O15485|O15486|O15487|O15489|O15490	Frame_Shift_Ins	INS	pfam_Glyco_trans_8	p.P319fs	ENST00000381163.3	37	c.947_948	CCDS14121.1	X																																																																																			GYG2	-	NULL	ENSG00000056998		0.579	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	23	0.00	0	-	NM_003918		2779579	2779580	+1	no_errors	ENST00000381163	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	0.000:0.000	G
GUCY2F	2986	genome.wustl.edu	37	X	108718511	108718511	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chrX:108718511C>T	ENST00000218006.2	-	2	946	c.655G>A	c.(655-657)Gtc>Atc	p.V219I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	219					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						GTGGTCAGGACGACCCCTACA	0.537											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													90.0	78.0	82.0					X																	108718511		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.655G>A	X.37:g.108718511C>T	ENSP00000218006:p.Val219Ile	1414	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.V219I	ENST00000218006.2	37	c.655	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307479	0.81247	.	.	ENSG00000101890	ENST00000218006	D	0.83335	-1.71	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	M	0.71581	2.175	0.58432	D	0.999998	D	0.71674	0.998	D	0.67725	0.953	D	0.87059	0.2152	10	0.28530	T	0.3	.	14.6651	0.68901	0.0:1.0:0.0:0.0	.	219	P51841	GUC2F_HUMAN	I	219	ENSP00000218006:V219I	ENSP00000218006:V219I	V	-	1	0	GUCY2F	108605167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.414000	0.59802	2.433000	0.82419	0.594000	0.82650	GTC	GUCY2F	-	pfam_ANF_lig-bd_rcpt	ENSG00000101890		0.537	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	164	0.00	0	C	NM_001522		108718511	108718511	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	missense	90	44.44	72	SNP	1.000	T
IQCB1	9657	genome.wustl.edu	37	3	121508941	121508941	+	Missense_Mutation	SNP	T	T	C	rs112790935		TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr3:121508941T>C	ENST00000310864.6	-	11	1322	c.1108A>G	c.(1108-1110)Atg>Gtg	p.M370V	IQCB1_ENST00000349820.6_Missense_Mutation_p.M237V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	370					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		ATTTCGAGCATACTCAGCTGC	0.383																																						dbGAP											0													210.0	194.0	200.0					3																	121508941		2203	4300	6503	-	-	-	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1108A>G	3.37:g.121508941T>C	ENSP00000311505:p.Met370Val		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.M370V	ENST00000310864.6	37	c.1108	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919511	0.52653	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.70869	1.37;-0.52	4.92	3.68	0.42216	.	0.050807	0.85682	D	0.000000	T	0.62441	0.2428	L	0.36672	1.1	0.27726	N	0.944966	P;B	0.36392	0.551;0.053	P;B	0.44394	0.448;0.036	T	0.57435	-0.7812	10	0.46703	T	0.11	-8.6185	5.4104	0.16344	0.1715:0.0:0.1789:0.6496	.	370;237	Q15051;Q15051-2	IQCB1_HUMAN;.	V	370;237	ENSP00000311505:M370V;ENSP00000323756:M237V	ENSP00000311505:M370V	M	-	1	0	IQCB1	122991631	0.977000	0.34250	0.968000	0.41197	0.785000	0.44390	1.243000	0.32767	2.180000	0.69256	0.528000	0.53228	ATG	IQCB1	-	NULL	ENSG00000173226		0.383	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	215	0.00	0	T	NM_014642		121508941	121508941	-1	no_errors	ENST00000310864	ensembl	human	known	69_37n	missense	331	13.99	54	SNP	0.936	C
IQCH	64799	genome.wustl.edu	37	15	67782366	67782366	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr15:67782366T>C	ENST00000335894.4	+	19	2891	c.2825T>C	c.(2824-2826)tTa>tCa	p.L942S	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron|IQCH_ENST00000546225.1_Missense_Mutation_p.L599S	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	942										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTTTTTATATTATATGAGCAC	0.343																																						dbGAP											0													143.0	151.0	148.0					15																	67782366		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2825T>C	15.37:g.67782366T>C	ENSP00000336861:p.Leu942Ser		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.L942S	ENST00000335894.4	37	c.2825	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082734	0.36758	.	.	ENSG00000103599	ENST00000546225;ENST00000335894	T;T	0.13307	2.6;2.6	5.6	5.6	0.85130	.	0.087209	0.43416	D	0.000577	T	0.37732	0.1014	M	0.80847	2.515	0.09310	N	1	D;D	0.89917	1.0;0.995	D;D	0.76575	0.988;0.98	T	0.34551	-0.9824	10	0.87932	D	0	-13.4533	10.9164	0.47139	0.0:0.0731:0.0:0.9269	.	599;942	Q86VS3-2;Q86VS3	.;IQCH_HUMAN	S	599;942	ENSP00000444118:L599S;ENSP00000336861:L942S	ENSP00000336861:L942S	L	+	2	0	IQCH	65569420	0.765000	0.28485	0.006000	0.13384	0.124000	0.20399	5.068000	0.64364	2.124000	0.65301	0.528000	0.53228	TTA	IQCH	-	NULL	ENSG00000103599		0.343	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	207	0.00	0	T	NM_022784		67782366	67782366	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	60	79.87	242	SNP	0.019	C
KIAA0586	9786	genome.wustl.edu	37	14	58941356	58941356	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr14:58941356C>G	ENST00000556134.1	+	20	2895	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	KIAA0586_ENST00000423743.3_Missense_Mutation_p.S845C|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S813C|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S942C	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	874					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTCCAGACTCTGAACCAATT	0.348																																						dbGAP											0													38.0	37.0	37.0					14																	58941356		1811	4074	5885	-	-	-	SO:0001583	missense	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2621C>G	14.37:g.58941356C>G	ENSP00000452351:p.Ser874Cys		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	NULL	p.S874C	ENST00000556134.1	37	c.2621	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989946	0.54041	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.19	3.35	0.38373	.	0.361650	0.24674	N	0.036521	T	0.34716	0.0907	N	0.01048	-1.04	0.23816	N	0.996761	D;D;D;P;D;D	0.76494	0.998;0.999;0.988;0.948;0.999;0.998	D;D;P;P;D;D	0.66847	0.929;0.947;0.614;0.508;0.947;0.929	T	0.29761	-1.0001	10	0.56958	D	0.05	.	10.225	0.43220	0.0:0.8401:0.0:0.1599	.	749;749;942;813;874;845	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	C	942;874;845;813;749	ENSP00000346359:S942C;ENSP00000452351:S874C;ENSP00000399427:S845C;ENSP00000261244:S813C	ENSP00000261244:S813C	S	+	2	0	KIAA0586	58011109	0.257000	0.24022	1.000000	0.80357	0.964000	0.63967	0.547000	0.23299	1.192000	0.43071	-0.189000	0.12847	TCT	KIAA0586	-	NULL	ENSG00000100578		0.348	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	120	0.00	0	C	NM_014749		58941356	58941356	+1	no_errors	ENST00000556134	ensembl	human	known	69_37n	missense	68	25.27	23	SNP	0.998	G
KIF3C	3797	genome.wustl.edu	37	2	26204266	26204266	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr2:26204266C>T	ENST00000264712.3	-	1	1100	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G174D	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	174	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGACGCCAGTCTCGGG	0.567																																						dbGAP											0													98.0	107.0	104.0					2																	26204266		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.521G>A	2.37:g.26204266C>T	ENSP00000264712:p.Gly174Asp		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G174D	ENST00000264712.3	37	c.521	CCDS1719.1	2	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779005	0.70107	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.76578	-1.03;-1.03	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.91946	0.5567	10	0.87932	D	0	.	17.1582	0.86797	0.0:1.0:0.0:0.0	.	174;174	B7ZM25;O14782	.;KIF3C_HUMAN	D	174	ENSP00000264712:G174D;ENSP00000385030:G174D	ENSP00000264712:G174D	G	-	2	0	KIF3C	26057770	1.000000	0.71417	0.190000	0.23270	0.965000	0.64279	7.818000	0.86416	2.637000	0.89404	0.563000	0.77884	GGC	KIF3C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000084731		0.567	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	145	0.00	0	C			26204266	26204266	-1	no_errors	ENST00000264712	ensembl	human	known	69_37n	missense	81	26.36	29	SNP	0.998	T
KTN1	3895	genome.wustl.edu	37	14	56114770	56114770	+	Silent	SNP	G	G	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr14:56114770G>A	ENST00000395314.3	+	20	2303	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	KTN1_ENST00000416613.1_Silent_p.K745K|KTN1_ENST00000413890.2_Silent_p.K745K|KTN1_ENST00000395309.3_Silent_p.K745K|KTN1_ENST00000438792.2_Silent_p.K745K|KTN1_ENST00000395308.1_Silent_p.K745K|KTN1_ENST00000395311.1_Silent_p.K745K|KTN1_ENST00000554507.1_Silent_p.K40K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	745					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAGTTAAAGACTGTGGAAG	0.264			T	RET	papillary thryoid																																	dbGAP		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													69.0	72.0	71.0					14																	56114770		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2235G>A	14.37:g.56114770G>A			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	NULL	p.K745	ENST00000395314.3	37	c.2235	CCDS41957.1	14																																																																																			KTN1	-	NULL	ENSG00000126777		0.264	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	75	0.00	0	G			56114770	56114770	+1	no_errors	ENST00000395309	ensembl	human	known	69_37n	silent	56	23.29	17	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39889705	39889705	+	Silent	SNP	C	C	G			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr1:39889705C>G	ENST00000372915.3	+	60	16257	c.16170C>G	c.(16168-16170)ctC>ctG	p.L5390L	MACF1_ENST00000567887.1_Silent_p.L5422L|MACF1_ENST00000317713.7_Silent_p.L3323L|MACF1_ENST00000539005.1_Silent_p.L3302L|MACF1_ENST00000564288.1_Silent_p.L5385L|MACF1_ENST00000545844.1_Silent_p.L3323L|MACF1_ENST00000361689.2_Silent_p.L3323L|MACF1_ENST00000289893.4_Silent_p.L3825L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5390					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATAGTTGCTCCAGCGGCTCC	0.418																																						dbGAP											0													45.0	48.0	47.0					1																	39889705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16170C>G	1.37:g.39889705C>G			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2	p.P2436A	ENST00000372915.3	37	c.7306		1	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685372	0.14973	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.48	3.62	0.41486	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49062	-0.8978	4	.	.	.	.	6.4986	0.22155	0.0:0.6569:0.1302:0.213	.	.	.	.	A	2436	.	.	P	+	1	0	MACF1	39662292	0.808000	0.29022	1.000000	0.80357	0.960000	0.62799	-0.057000	0.11768	0.690000	0.31570	-0.140000	0.14226	CCA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	234	0.00	0	C	NM_033044		39889705	39889705	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372925	ensembl	human	novel	69_37n	missense	238	15.90	45	SNP	0.997	G
MED23	9439	genome.wustl.edu	37	6	131926396	131926396	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr6:131926396C>A	ENST00000368068.3	-	14	1776	c.1597G>T	c.(1597-1599)Gtt>Ttt	p.V533F	MED23_ENST00000403834.3_Missense_Mutation_p.V539F|MED23_ENST00000545957.1_Missense_Mutation_p.V174F|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.V539F|MED23_ENST00000368060.3_Missense_Mutation_p.V533F|MED23_ENST00000368058.1_Missense_Mutation_p.V539F|MED23_ENST00000354577.4_Missense_Mutation_p.V539F|MED23_ENST00000540546.1_Missense_Mutation_p.V539F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	533					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTGGCATGAACTGTCAGTGAA	0.373																																						dbGAP											0													85.0	83.0	84.0					6																	131926396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1597G>T	6.37:g.131926396C>A	ENSP00000357047:p.Val533Phe		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.V539F	ENST00000368068.3	37	c.1615	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024581	0.93518	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.78314	0.991;0.98;0.987;0.978	T	0.82579	-0.0387	10	0.45353	T	0.12	-12.4228	20.1935	0.98237	0.0:1.0:0.0:0.0	.	174;539;533;539	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	F	539;533;539;533;539;174;539;539	ENSP00000346588:V539F;ENSP00000357047:V533F;ENSP00000384536:V539F;ENSP00000357039:V533F;ENSP00000357037:V539F;ENSP00000439977:V174F;ENSP00000357032:V539F;ENSP00000437818:V539F	ENSP00000346588:V539F	V	-	1	0	MED23	131968089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GTT	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	58	0.00	0	C			131926396	131926396	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	missense	35	57.83	48	SNP	1.000	A
MST1L	11223	genome.wustl.edu	37	1	17085006	17085006	+	RNA	SNP	C	C	T	rs201784242	byFrequency	TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr1:17085006C>T	ENST00000455405.2	-	0	182							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CGGATGGCCCCCAGCCACGCG	0.607																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085006C>T			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.G490E	ENST00000455405.2	37	c.1469		1	.	.	.	.	.	.	.	.	.	.	.	11.84	1.758278	0.31137	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.42964	D	0.000638	T	0.62636	0.2444	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.65524	-0.6147	6	0.35671	T	0.21	.	6.8326	0.23919	0.0:0.9999:0.0:1.0E-4	.	490;490	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	459;490;490	.	ENSP00000439273:G490E	G	-	2	0	MST1P9	16957593	0.982000	0.34865	0.000000	0.03702	0.000000	0.00434	2.313000	0.43735	-0.000000	0.14550	0.000000	0.15137	GGG	MST1P9	-	superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.607	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	57	0.00	0	C	NM_001271733		17085006	17085006	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.998	T
MUC17	140453	genome.wustl.edu	37	7	100676653	100676653	+	Silent	SNP	T	T	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr7:100676653T>A	ENST00000306151.4	+	3	2020	c.1956T>A	c.(1954-1956)acT>acA	p.T652T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	652	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTCAACAACTCCTGTTGACT	0.478																																						dbGAP											0													275.0	280.0	278.0					7																	100676653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1956T>A	7.37:g.100676653T>A			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T652	ENST00000306151.4	37	c.1956	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	656	0.15	1	T	NM_001040105		100676653	100676653	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	251	41.07	177	SNP	0.002	A
N4BP2L2	10443	genome.wustl.edu	37	13	33017767	33017767	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr13:33017767G>A	ENST00000504114.1	-	6	953	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.H288Y|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.H303Y			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GCTATGGTATGCCTATTTCTA	0.383																																						dbGAP											0													101.0	94.0	96.0					13																	33017767		1869	4108	5977	-	-	-	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.862C>T	13.37:g.33017767G>A	ENSP00000427477:p.His288Tyr		A3KME8	Missense_Mutation	SNP	NULL	p.H303Y	ENST00000504114.1	37	c.907		13	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852957	0.51270	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.66	-0.246	0.13022	.	1.123870	0.06621	N	0.757416	T	0.33731	0.0873	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.33171	0.114;0.114;0.114;0.4	B;B;B;B	0.30855	0.078;0.047;0.078;0.121	T	0.30937	-0.9961	9	0.72032	D	0.01	0.3733	2.203	0.03928	0.1363:0.2551:0.3671:0.2415	.	288;303;186;186	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	Y	186;215;288;288;303	.	ENSP00000350104:H288Y	H	-	1	0	N4BP2L2;RP11-298P3.4	31915767	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.080000	0.11339	-0.424000	0.07382	-0.181000	0.13052	CAT	N4BP2L2	-	NULL	ENSG00000244754		0.383	N4BP2L2-004	PUTATIVE	basic	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000361380.1	60	0.00	0	G	NM_014887		33017767	33017767	-1	no_errors	ENST00000399396	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.000	A
NBEAL1	65065	genome.wustl.edu	37	2	204001452	204001452	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr2:204001452G>T	ENST00000449802.1	+	28	4766	c.4433G>T	c.(4432-4434)gGa>gTa	p.G1478V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1478										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAAACCAGGAATATCCAGT	0.363																																						dbGAP											0													138.0	132.0	134.0					2																	204001452		1880	4108	5988	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4433G>T	2.37:g.204001452G>T	ENSP00000399903:p.Gly1478Val		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1478V	ENST00000449802.1	37	c.4433	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232873	0.39498	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58940	0.3	5.8	4.92	0.64577	.	0.761042	0.12796	N	0.438417	T	0.57257	0.2041	M	0.72894	2.215	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.56896	-0.7903	10	0.72032	D	0.01	.	9.3413	0.38082	0.0723:0.0:0.7822:0.1456	.	1478;1467	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	1478	ENSP00000399903:G1478V	ENSP00000344985:G1478V	G	+	2	0	NBEAL1	203709697	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.424000	0.66464	1.423000	0.47198	0.650000	0.86243	GGA	NBEAL1	-	NULL	ENSG00000144426		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	76	0.00	0	G			204001452	204001452	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	1.000	T
PABPC5	140886	genome.wustl.edu	37	X	90690698	90690698	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chrX:90690698C>A	ENST00000312600.3	+	2	336	c.122C>A	c.(121-123)gCt>gAt	p.A41D	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	41	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TTCAGGCCTGCTGGCCCTCTG	0.572																																						dbGAP											0													53.0	41.0	45.0					X																	90690698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.122C>A	X.37:g.90690698C>A	ENSP00000308012:p.Ala41Asp		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.A41D	ENST00000312600.3	37	c.122	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929797	0.73327	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.16743	2.32	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20405	-1.0276	10	0.72032	D	0.01	.	13.8904	0.63736	0.0:1.0:0.0:0.0	.	41	Q96DU9	PABP5_HUMAN	D	41;9	ENSP00000308012:A41D	ENSP00000308012:A41D	A	+	2	0	PABPC5	90577354	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.331000	0.79192	2.450000	0.82876	0.600000	0.82982	GCT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	37	0.00	0	C	NM_080832		90690698	90690698	+1	no_errors	ENST00000312600	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	1.000	A
PCDHA5	56143	genome.wustl.edu	37	5	140202883	140202883	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr5:140202883C>T	ENST00000529859.1	+	1	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHA5_ENST00000378126.3_Missense_Mutation_p.S508L|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S508L|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	508	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)			AGTTACGTTTCGGTGCACGCG	0.701																																						dbGAP											0													53.0	58.0	56.0					5																	140202883		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.1523C>T	5.37:g.140202883C>T	ENSP00000436557:p.Ser508Leu		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S508L	ENST00000529859.1	37	c.1523	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363938	0.61513	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.53857	0.6;0.6;0.6	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68696	0.3029	L	0.55834	1.745	0.26362	N	0.977039	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.995	T	0.62343	-0.6874	9	0.87932	D	0	.	15.8281	0.78730	0.0:1.0:0.0:0.0	.	508;508;508	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	508	ENSP00000433416:S508L;ENSP00000436557:S508L;ENSP00000367366:S508L	ENSP00000367366:S508L	S	+	2	0	PCDHA5	140183067	0.907000	0.30839	0.999000	0.59377	0.907000	0.53573	1.762000	0.38451	1.864000	0.54056	0.461000	0.40582	TCG	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.701	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	25	0.00	0	C	NM_018908		140202883	140202883	+1	no_errors	ENST00000529859	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.991	T
SLC24A4	123041	genome.wustl.edu	37	14	92958577	92958577	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr14:92958577C>T	ENST00000532405.1	+	16	1935	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	SLC24A4_ENST00000298877.1_Missense_Mutation_p.A553V|SLC24A4_ENST00000393265.2_Missense_Mutation_p.A506V|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A551V|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A534V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	570					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GGCTCTGTCGCTCTCACCGTG	0.512																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0													173.0	162.0	166.0					14																	92958577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1709C>T	14.37:g.92958577C>T	ENSP00000431840:p.Ala570Val		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.A570V	ENST00000532405.1	37	c.1709	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876107	0.17395	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;D	0.81996	0.19;-0.03;0.19;0.19;-1.56	4.46	4.46	0.54185	Sodium/calcium exchanger membrane region (1);	0.047359	0.85682	D	0.000000	T	0.64125	0.2570	N	0.02830	-0.485	0.50632	D	0.999882	B;B;B	0.25390	0.026;0.125;0.013	B;B;B	0.31946	0.025;0.138;0.023	T	0.62595	-0.6821	10	0.05436	T	0.98	.	16.9147	0.86148	0.0:1.0:0.0:0.0	.	551;506;570	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	V	506;551;570;553;534	ENSP00000376948:A506V;ENSP00000433302:A551V;ENSP00000431840:A570V;ENSP00000298877:A553V;ENSP00000337789:A534V	ENSP00000298877:A553V	A	+	2	0	SLC24A4	92028330	0.008000	0.16893	0.075000	0.20258	0.061000	0.15899	0.986000	0.29590	2.773000	0.95371	0.650000	0.86243	GCT	SLC24A4	-	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000140090		0.512	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	88	0.00	0	C	NM_153646		92958577	92958577	+1	no_errors	ENST00000532405	ensembl	human	known	69_37n	missense	29	45.28	24	SNP	0.834	T
SLC4A10	57282	genome.wustl.edu	37	2	162711543	162711543	+	Silent	SNP	T	T	G			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr2:162711543T>G	ENST00000446997.1	+	5	573	c.480T>G	c.(478-480)gcT>gcG	p.A160A	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Silent_p.A160A|SLC4A10_ENST00000421911.1_Silent_p.A160A|SLC4A10_ENST00000375514.5_Silent_p.A171A|SLC4A10_ENST00000415876.2_Silent_p.A160A|SLC4A10_ENST00000272716.5_Silent_p.A160A	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	160					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTTATGTGGCTACTCTTTCAT	0.383																																						dbGAP											0													114.0	125.0	122.0					2																	162711543		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.480T>G	2.37:g.162711543T>G			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A160	ENST00000446997.1	37	c.480	CCDS54411.1	2																																																																																			SLC4A10	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.383	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	114	0.00	0	T	NM_022058		162711543	162711543	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	silent	133	18.40	30	SNP	0.955	G
SPTBN4	57731	genome.wustl.edu	37	19	41038673	41038673	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr19:41038673G>A	ENST00000352632.3	+	19	4176	c.4090G>A	c.(4090-4092)Gag>Aag	p.E1364K	SPTBN4_ENST00000392023.1_Missense_Mutation_p.E40K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E107K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1364K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1364K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1364K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1364					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAAGATCGAGCGGGTGAG	0.632																																						dbGAP											0													39.0	31.0	34.0					19																	41038673		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4090G>A	19.37:g.41038673G>A	ENSP00000263373:p.Glu1364Lys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1364K	ENST00000352632.3	37	c.4090	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007906	0.54361	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000005	T	0.56232	0.1971	L	0.38175	1.15	0.41650	D	0.989124	P;D;D;P;D;D	0.89917	0.807;0.997;1.0;0.545;1.0;0.976	B;P;D;B;D;P	0.81914	0.126;0.848;0.995;0.115;0.995;0.545	T	0.46205	-0.9208	10	0.11485	T	0.65	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	1364;107;107;40;1364;1364	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	K	1364;1364;1364;107;40	ENSP00000263373:E1364K;ENSP00000340345:E1364K;ENSP00000375879:E107K;ENSP00000375877:E40K	ENSP00000340345:E1364K	E	+	1	0	SPTBN4	45730513	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	6.441000	0.73439	2.499000	0.84300	0.561000	0.74099	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	46	0.00	0	G			41038673	41038673	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	A
TEP1	7011	genome.wustl.edu	37	14	20876336	20876336	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr14:20876336A>T	ENST00000262715.5	-	2	303	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	TEP1_ENST00000556935.1_Missense_Mutation_p.L88Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	88					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATGGTCTTCAGGTCAGAAAG	0.532																																						dbGAP											0													112.0	108.0	110.0					14																	20876336		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.263T>A	14.37:g.20876336A>T	ENSP00000262715:p.Leu88Gln		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L88Q	ENST00000262715.5	37	c.263	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780831	0.49891	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.68479	-0.33;-0.33;-0.33	5.08	5.08	0.68730	.	0.355691	0.21221	N	0.078149	T	0.70718	0.3256	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.67382	0.939;0.951	T	0.70539	-0.4844	10	0.46703	T	0.11	-3.9548	11.4143	0.49943	1.0:0.0:0.0:0.0	.	88;88	G3V5X7;Q99973	.;TEP1_HUMAN	Q	88	ENSP00000262715:L88Q;ENSP00000452574:L88Q;ENSP00000452240:L88Q	ENSP00000262715:L88Q	L	-	2	0	TEP1	19946176	0.895000	0.30542	0.949000	0.38748	0.315000	0.28087	3.567000	0.53813	2.252000	0.74401	0.528000	0.53228	CTG	TEP1	-	pfam_TEP1_N	ENSG00000129566		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	371	0.00	0	A	NM_007110		20876336	20876336	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	105	60.38	160	SNP	0.810	T
TMEM40	55287	genome.wustl.edu	37	3	12785428	12785429	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr3:12785428_12785429insC	ENST00000314124.7	-	4	627_628	c.271_272insG	c.(271-273)gctfs	p.A91fs	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Frame_Shift_Ins_p.A91fs|TMEM40_ENST00000431022.2_Frame_Shift_Ins_p.A107fs|TMEM40_ENST00000435218.2_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	91						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GGGGTATCCAGCCCCCAGGCTC	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.272dupG	3.37:g.12785433_12785433dupC	ENSP00000322837:p.Ala91fs		C9JID5|Q8NAL4|Q9NUZ4	Frame_Shift_Ins	INS	NULL	p.A107fs	ENST00000314124.7	37	c.320_319	CCDS2613.1	3																																																																																			TMEM40	-	NULL	ENSG00000088726		0.554	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	HGNC	protein_coding	OTTHUMT00000252029.2	22	0.00	0	-	NM_018306		12785428	12785429	-1	no_errors	ENST00000431022	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.001:0.002	C
XIRP1	165904	genome.wustl.edu	37	3	39226658	39226659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chr3:39226658_39226659insG	ENST00000340369.3	-	2	4506_4507	c.4278_4279insC	c.(4276-4281)cccaagfs	p.K1427fs	XIRP1_ENST00000421646.1_Frame_Shift_Ins_p.K110fs|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1427					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCATTGAGCTTGGGGGGCTCAG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4279dupC	3.37:g.39226664_39226664dupG	ENSP00000343140:p.Lys1427fs		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Ins	INS	pfam_Actin-binding_Xin_repeat	p.K1426fs	ENST00000340369.3	37	c.4279_4278	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.639	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	41	0.00	0	-	XM_093522		39226658	39226659	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	0.245:0.254	G
ZCCHC5	203430	genome.wustl.edu	37	X	77912638	77912638	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0D4-01A-11W-A019-09	TCGA-A2-A0D4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f3accede-1716-4d44-bad4-5427a9ebd675	9223d8eb-db2b-469a-94fc-857f5b62996c	g.chrX:77912638T>A	ENST00000321110.1	-	2	1575	c.1280A>T	c.(1279-1281)aAc>aTc	p.N427I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	427							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGTGGGCAGTTGATTGCAGC	0.522																																						dbGAP											0													154.0	119.0	131.0					X																	77912638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1280A>T	X.37:g.77912638T>A	ENSP00000316794:p.Asn427Ile		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.N427I	ENST00000321110.1	37	c.1280	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	T	3.227	-0.158296	0.06544	.	.	ENSG00000179300	ENST00000321110	T	0.18810	2.19	3.2	2.04	0.26737	.	.	.	.	.	T	0.16685	0.0401	L	0.36672	1.1	0.09310	N	1	D	0.54964	0.969	P	0.46110	0.504	T	0.11108	-1.0601	9	0.31617	T	0.26	.	4.4606	0.11665	0.0:0.1554:0.0:0.8446	.	427	Q8N8U3	ZCHC5_HUMAN	I	427	ENSP00000316794:N427I	ENSP00000316794:N427I	N	-	2	0	ZCCHC5	77799294	0.003000	0.15002	0.000000	0.03702	0.011000	0.07611	1.130000	0.31393	0.463000	0.27118	0.417000	0.27973	AAC	ZCCHC5	-	superfamily_Znf_CCHC	ENSG00000179300		0.522	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	105	0.00	0	T	NM_152694		77912638	77912638	-1	no_errors	ENST00000321110	ensembl	human	known	69_37n	missense	108	11.48	14	SNP	0.000	A
