#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
C1orf101	257044	genome.wustl.edu	37	1	244735950	244735950	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr1:244735950C>A	ENST00000366534.4	+	11	1880	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.T458N|C1orf101_ENST00000366533.4_Missense_Mutation_p.T609N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	609						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGTTTGGACTCAGATCGTC	0.393																																						dbGAP											0													81.0	76.0	78.0					1																	244735950		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1826C>A	1.37:g.244735950C>A	ENSP00000355492:p.Thr609Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.T609N	ENST00000366534.4	37	c.1826	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140885	0.21205	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.06	0.415	0.16411	.	1.609080	0.03460	N	0.212000	T	0.24275	0.0588	L	0.40543	1.245	0.09310	N	0.999996	P;P;P;P	0.46512	0.879;0.589;0.744;0.557	B;B;B;B	0.42882	0.401;0.142;0.361;0.277	T	0.23511	-1.0186	10	0.72032	D	0.01	.	5.3367	0.15961	0.0:0.4877:0.3107:0.2016	.	529;609;609;458	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	609;609;609;529;458	ENSP00000355492:T609N;ENSP00000355491:T609N;ENSP00000395796:T529N;ENSP00000355489:T458N	ENSP00000355489:T458N	T	+	2	0	C1orf101	242802573	0.945000	0.32115	0.180000	0.23079	0.019000	0.09904	0.214000	0.17541	0.185000	0.20105	0.557000	0.71058	ACT	C1orf101	-	NULL	ENSG00000179397		0.393	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	99	0.00	0	C	NM_173807		244735950	244735950	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	98	14.78	17	SNP	0.407	A
ESF1	51575	genome.wustl.edu	37	20	13753198	13753198	+	Missense_Mutation	SNP	G	G	C	rs528968854		TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr20:13753198G>C	ENST00000202816.1	-	5	1320	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATACTTAATAGCTCTACTGGT	0.328																																						dbGAP											0													189.0	182.0	184.0					20																	13753198		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1213C>G	20.37:g.13753198G>C	ENSP00000202816:p.Leu405Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.L405V	ENST00000202816.1	37	c.1213	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446431	0.43429	.	.	ENSG00000089048	ENST00000202816	T	0.79141	-1.24	5.53	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.83774	0.5327	M	0.73598	2.24	0.50467	D	0.999874	D	0.76494	0.999	D	0.78314	0.991	T	0.79567	-0.1750	10	0.27785	T	0.31	-8.848	8.0737	0.30704	0.591:0.0:0.409:0.0	.	405	Q9H501	ESF1_HUMAN	V	405	ENSP00000202816:L405V	ENSP00000202816:L405V	L	-	1	2	ESF1	13701198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.781000	0.55394	0.485000	0.27652	-0.312000	0.09012	CTA	ESF1	-	NULL	ENSG00000089048		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	336	0.00	0	G	NM_016649		13753198	13753198	-1	no_errors	ENST00000202816	ensembl	human	known	69_37n	missense	177	20.98	47	SNP	1.000	C
FAM46D	169966	genome.wustl.edu	37	X	79698447	79698447	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chrX:79698447G>T	ENST00000308293.5	+	3	648	c.409G>T	c.(409-411)Gtt>Ttt	p.V137F	FAM46D_ENST00000538312.1_Missense_Mutation_p.V137F	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	137										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATTGGTCAAGGTTTGCAATGG	0.383																																						dbGAP											0													120.0	114.0	116.0					X																	79698447		2203	4298	6501	-	-	-	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.409G>T	X.37:g.79698447G>T	ENSP00000308575:p.Val137Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.V137F	ENST00000308293.5	37	c.409	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428618	0.25726	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.37058	1.22;1.22	4.38	2.42	0.29668	Domain of unknown function DUF1693 (1);	0.144593	0.46442	D	0.000293	T	0.52158	0.1717	M	0.74881	2.28	0.54753	D	0.999987	D	0.63880	0.993	D	0.63877	0.919	T	0.48445	-0.9035	10	0.59425	D	0.04	-7.4707	7.7234	0.28746	0.2401:0.0:0.7599:0.0	.	137	Q8NEK8	FA46D_HUMAN	F	137	ENSP00000443410:V137F;ENSP00000308575:V137F	ENSP00000308575:V137F	V	+	1	0	FAM46D	79585103	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	2.913000	0.48790	0.237000	0.21200	0.538000	0.68166	GTT	FAM46D	-	pfam_DUF1693	ENSG00000174016		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	99	0.00	0	G	NM_152630		79698447	79698447	+1	no_errors	ENST00000308293	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152189237	152189237	+	Missense_Mutation	SNP	C	C	G	rs200543988	byFrequency	TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr1:152189237C>G	ENST00000368801.2	-	3	4943	c.4868G>C	c.(4867-4869)aGc>aCc	p.S1623T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1623					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCACTGCTGGAAGACCG	0.617																																						dbGAP											0													5.0	1.0	3.0					1																	152189237		494	616	1110	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.4868G>C	1.37:g.152189237C>G	ENSP00000357791:p.Ser1623Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1623T	ENST00000368801.2	37	c.4868	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558245	0.13436	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.35	-1.7	0.08159	.	.	.	.	.	T	0.01254	0.0041	L	0.48642	1.525	0.09310	N	1	B	0.30281	0.275	B	0.18263	0.021	T	0.46965	-0.9153	9	0.12766	T	0.61	.	6.3832	0.21546	0.0:0.3868:0.4467:0.1665	.	1623	Q86YZ3	HORN_HUMAN	T	1623	ENSP00000357791:S1623T	ENSP00000357791:S1623T	S	-	2	0	HRNR	150455861	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.035000	0.12205	-0.146000	0.11274	-0.241000	0.12123	AGC	HRNR	-	NULL	ENSG00000197915		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	16	0.00	0	C	XM_373868		152189237	152189237	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.000	G
KCNIP1	30820	genome.wustl.edu	37	5	170145803	170145803	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr5:170145803C>T	ENST00000411494.1	+	3	136	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	KCNIP1_ENST00000328939.4_Missense_Mutation_p.R35W|KCNIP1_ENST00000377360.4_Missense_Mutation_p.R44W|KCNIP1_ENST00000390656.4_Missense_Mutation_p.R35W|KCNIP1_ENST00000520740.1_Missense_Mutation_p.R7W|KCNIP1_ENST00000434108.1_Missense_Mutation_p.R35W			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	46	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTTGCCATCGGCCCGAGGG	0.522																																						dbGAP											0													58.0	54.0	55.0					5																	170145803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.136C>T	5.37:g.170145803C>T	ENSP00000395323:p.Arg46Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.R46W	ENST00000411494.1	37	c.136	CCDS34286.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385579	0.82792	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.72505	-0.6;-0.59;-0.59;-0.66;-0.64;1.95	5.59	5.59	0.84812	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86556	0.5961	M	0.88181	2.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.981;0.986;0.985;0.985	D	0.88112	0.2826	9	.	.	.	.	17.0782	0.86591	0.0:1.0:0.0:0.0	.	35;35;46;44	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	W	44;35;35;7;35;46	ENSP00000366577:R44W;ENSP00000329686:R35W;ENSP00000375071:R35W;ENSP00000431102:R7W;ENSP00000414886:R35W;ENSP00000395323:R46W	.	R	+	1	2	KCNIP1	170078381	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.767000	0.38501	2.619000	0.88677	0.655000	0.94253	CGG	KCNIP1	-	prints_Recoverin	ENSG00000182132		0.522	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	KCNIP1	HGNC	protein_coding	OTTHUMT00000371760.1	68	0.00	0	C			170145803	170145803	+1	no_errors	ENST00000411494	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	1.000	T
LINC00207	388910	genome.wustl.edu	37	22	44967346	44967346	+	lincRNA	SNP	G	G	A			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr22:44967346G>A	ENST00000605505.1	+	0	337					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						CTGGAGGGACGTCCTGTCAGC	0.557																																						dbGAP											0													70.0	76.0	74.0					22																	44967346		2061	4200	6261	-	-	-			0			BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44967346G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T72	ENST00000605505.1	37	c.216		22																																																																																			LINC00207	-	NULL	ENSG00000187012		0.557	LINC00207-003	KNOWN	basic	lincRNA	LINC00207	HGNC	lincRNA	OTTHUMT00000468439.1	132	0.00	0	G	NR_028409		44967346	44967346	+1	no_errors	ENST00000334566	ensembl	human	putative	69_37n	silent	75	29.91	32	SNP	0.049	A
NRIP1	8204	genome.wustl.edu	37	21	16339800	16339801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr21:16339800_16339801insG	ENST00000400202.1	-	3	1425_1426	c.713_714insC	c.(712-714)gcafs	p.A238fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.A238fs|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.A238fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	238	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCTGTAATCTTGCAGCACATGA	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.714dupC	21.37:g.16339801_16339801dupG	ENSP00000383063:p.Ala238fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWE8	Frame_Shift_Ins	INS	NULL	p.R239fs	ENST00000400202.1	37	c.714_713	CCDS13568.1	21																																																																																			NRIP1	-	NULL	ENSG00000180530		0.450	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	225	0.00	0	-	NM_003489		16339800	16339801	-1	no_errors	ENST00000318948	ensembl	human	known	69_37n	frame_shift_ins	137	22.60	40	INS	0.305:0.998	G
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	77	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	A
PREX2	80243	genome.wustl.edu	37	8	69046352	69046352	+	Silent	SNP	C	C	T			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr8:69046352C>T	ENST00000288368.4	+	32	4102	c.3825C>T	c.(3823-3825)gtC>gtT	p.V1275V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1275					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGCCACTGTCTGTGCCTTCT	0.488																																						dbGAP											0													83.0	78.0	80.0					8																	69046352		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3825C>T	8.37:g.69046352C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V1275	ENST00000288368.4	37	c.3825	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.488	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	89	0.00	0	C	NM_025170		69046352	69046352	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	silent	53	28.38	21	SNP	1.000	T
RPRD1A	55197	genome.wustl.edu	37	18	33647353	33647353	+	Silent	SNP	A	A	G			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr18:33647353A>G	ENST00000399022.4	-	1	186	c.15T>C	c.(13-15)tcT>tcC	p.S5S	RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank|RPRD1A_ENST00000357384.4_Silent_p.S5S|RPRD1A_ENST00000319040.6_Silent_p.S5S	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	5	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCGCCGCCTCAGAGAAGGCTG	0.652																																						dbGAP											0													60.0	45.0	50.0					18																	33647353		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.15T>C	18.37:g.33647353A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.S5	ENST00000399022.4	37	c.15	CCDS11917.1	18																																																																																			RPRD1A	-	superfamily_ENTH_VHS	ENSG00000141425		0.652	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1A	HGNC	protein_coding	OTTHUMT00000255802.1	95	0.00	0	A	NM_018170		33647353	33647353	-1	no_errors	ENST00000357384	ensembl	human	known	69_37n	silent	43	33.33	22	SNP	0.405	G
SLC30A1	7779	genome.wustl.edu	37	1	211749347	211749347	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr1:211749347C>G	ENST00000367001.4	-	2	1036	c.907G>C	c.(907-909)Gca>Cca	p.A303P		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	303					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TAAACTGATGCATGAGTACTA	0.373																																						dbGAP											0													135.0	144.0	141.0					1																	211749347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.907G>C	1.37:g.211749347C>G	ENSP00000355968:p.Ala303Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A303P	ENST00000367001.4	37	c.907	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	C	4.089	0.014547	0.07959	.	.	ENSG00000170385	ENST00000367001	T	0.65364	-0.15	4.59	4.59	0.56863	.	0.681253	0.14827	N	0.296129	T	0.61085	0.2319	L	0.43152	1.355	0.09310	N	1	D	0.53885	0.963	P	0.52159	0.691	T	0.50206	-0.8855	10	0.23891	T	0.37	-1.829	9.8919	0.41296	0.0:0.841:0.0:0.159	.	303	Q9Y6M5	ZNT1_HUMAN	P	303	ENSP00000355968:A303P	ENSP00000355968:A303P	A	-	1	0	SLC30A1	209815970	0.000000	0.05858	0.025000	0.17156	0.927000	0.56198	-0.423000	0.07034	2.549000	0.85964	0.563000	0.77884	GCA	SLC30A1	-	pfam_Cation_efflux	ENSG00000170385		0.373	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A1	HGNC	protein_coding	OTTHUMT00000104738.2	113	0.00	0	C			211749347	211749347	-1	no_errors	ENST00000367001	ensembl	human	known	69_37n	missense	96	15.79	18	SNP	0.005	G
SULT1A4	445329	genome.wustl.edu	37	16	29472811	29472811	+	Silent	SNP	A	A	G	rs150339073		TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr16:29472811A>G	ENST00000360423.7	+	2	206	c.105A>G	c.(103-105)caA>caG	p.Q35Q	SLX1B-SULT1A4_ENST00000564950.1_RNA|SULT1A4_ENST00000565290.1_Silent_p.Q35Q|SULT1A4_ENST00000344620.6_Silent_p.Q35Q|SULT1A4_ENST00000395400.3_Silent_p.Q35Q|SNX29P2_ENST00000398878.3_lincRNA	NM_001017390.2	NP_001017390.1	P0DMN0	ST1A4_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4	35					catecholamine metabolic process (GO:0006584)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	aryl sulfotransferase activity (GO:0004062)										AGAGCTTCCAAGCCCGACCTG	0.627																																						dbGAP											0													2.0	2.0	2.0					16																	29472811		1105	2210	3315	-	-	-	SO:0001819	synonymous_variant	0			L34160	CCDS32427.1	16p11.2	2013-05-10			ENSG00000213648	ENSG00000213648	2.8.2.1	"""Sulfotransferases, cytosolic"""	30004	protein-coding gene	gene with protein product		615819				15358107, 15752422	Standard	NM_001017390		Approved		uc002dxk.3	P0DMN0	OTTHUMG00000170468	ENST00000360423.7:c.105A>G	16.37:g.29472811A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV0|O95603|P50224|Q1ET66|Q6ZWJ5	Silent	SNP	pfam_Sulfotransferase_dom	p.Q35	ENST00000360423.7	37	c.105	CCDS32427.1	16																																																																																			SULT1A4	-	NULL	ENSG00000213648		0.627	SULT1A4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SULT1A4	HGNC	protein_coding	OTTHUMT00000409298.1	8	0.00	0	A	NM_001017389		29472811	29472811	+1	no_errors	ENST00000565290	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.951	G
TCERG1L	256536	genome.wustl.edu	37	10	132961403	132961403	+	Missense_Mutation	SNP	G	G	C	rs17857275		TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr10:132961403G>C	ENST00000368642.4	-	6	1101	c.1016C>G	c.(1015-1017)cCg>cGg	p.P339R		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	339	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.		P -> Q (in dbSNP:rs17857275). {ECO:0000269|PubMed:15489334}.							cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCGGGCACCGGGGTGGAGGC	0.602																																						dbGAP											0													37.0	35.0	36.0					10																	132961403		2202	4295	6497	-	-	-	SO:0001583	missense	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1016C>G	10.37:g.132961403G>C	ENSP00000357631:p.Pro339Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P339R	ENST00000368642.4	37	c.1016	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792578	0.50102	.	.	ENSG00000176769	ENST00000368642	T	0.43294	0.95	3.8	3.8	0.43715	.	0.000000	0.56097	D	0.000036	T	0.45915	0.1366	L	0.57536	1.79	0.58432	D	0.999994	D	0.57257	0.979	P	0.48982	0.597	T	0.51834	-0.8655	10	0.87932	D	0	-5.51	11.0493	0.47878	0.0:0.0:1.0:0.0	.	339	Q5VWI1	TCRGL_HUMAN	R	339	ENSP00000357631:P339R	ENSP00000357631:P339R	P	-	2	0	TCERG1L	132851393	0.905000	0.30787	0.890000	0.34922	0.760000	0.43138	2.507000	0.45442	1.963000	0.57068	0.655000	0.94253	CCG	TCERG1L	-	NULL	ENSG00000176769		0.602	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	100	0.00	0	G	NM_174937		132961403	132961403	-1	no_errors	ENST00000368642	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	0.896	C
USP48	84196	genome.wustl.edu	37	1	22021710	22021710	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr1:22021710T>C	ENST00000308271.9	-	23	3380	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron|USP48_ENST00000529637.1_Missense_Mutation_p.N923S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	911					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGTTCCACCATTGCTCTATAA	0.373																																						dbGAP											0													117.0	111.0	113.0					1																	22021710		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2732A>G	1.37:g.22021710T>C	ENSP00000309262:p.Asn911Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.N911S	ENST00000308271.9	37	c.2732	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383994	0.42308	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.04706	3.57;3.57	5.95	5.95	0.96441	.	0.318121	0.37715	N	0.001972	T	0.05273	0.0140	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.31817	0.255;0.081;0.341;0.13	B;B;B;B	0.28011	0.053;0.015;0.085;0.024	T	0.50849	-0.8779	10	0.20519	T	0.43	.	15.2477	0.73517	0.0:0.0:0.0:1.0	.	923;911;36;911	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	S	911;923	ENSP00000309262:N911S;ENSP00000431949:N923S	ENSP00000309262:N911S	N	-	2	0	USP48	21894297	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.755000	0.68750	2.279000	0.76181	0.533000	0.62120	AAT	USP48	-	NULL	ENSG00000090686		0.373	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	178	0.00	0	T	NM_032236		22021710	22021710	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	missense	122	24.22	39	SNP	1.000	C
ZBTB32	27033	genome.wustl.edu	37	19	36205635	36205635	+	Missense_Mutation	SNP	G	G	A	rs267605433		TCGA-AR-A2LM-01A-11D-A17W-09	TCGA-AR-A2LM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	901c3c76-1b59-4c02-8478-8790e9b90244	63fa5a8c-460f-4675-9901-097cfc8964b8	g.chr19:36205635G>A	ENST00000392197.2	+	3	425	c.107G>A	c.(106-108)gGg>gAg	p.G36E	ZBTB32_ENST00000262630.3_Missense_Mutation_p.G36E			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	36	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCACCGTAGGGAGCCAGGAG	0.647																																						dbGAP											0													50.0	55.0	53.0					19																	36205635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.107G>A	19.37:g.36205635G>A	ENSP00000376035:p.Gly36Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP2	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G36E	ENST00000392197.2	37	c.107	CCDS12471.1	19	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728237	0.69074	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.22336	1.96;1.96	5.54	3.44	0.39384	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.143577	0.32640	N	0.005831	T	0.18087	0.0434	L	0.41415	1.275	0.37405	D	0.91301	P	0.40578	0.722	B	0.40636	0.335	T	0.08576	-1.0715	10	0.72032	D	0.01	-14.6846	7.9038	0.29750	0.1808:0.0:0.8192:0.0	.	36	Q9Y2Y4	ZBT32_HUMAN	E	36	ENSP00000262630:G36E;ENSP00000376035:G36E	ENSP00000262630:G36E	G	+	2	0	ZBTB32	40897475	1.000000	0.71417	0.916000	0.36221	0.924000	0.55760	1.810000	0.38932	0.901000	0.36495	0.655000	0.94253	GGG	ZBTB32	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000011590		0.647	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB32	HGNC	protein_coding	OTTHUMT00000109491.3	51	0.00	0	G	NM_014383		36205635	36205635	+1	no_errors	ENST00000262630	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	0.965	A
