#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACVR2A	92	genome.wustl.edu	37	2	148674936	148674937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:148674936_148674937insA	ENST00000241416.7	+	6	1393_1394	c.757_758insA	c.(757-759)gaafs	p.E253fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.E253fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.E145fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CATTGGTGCAGAAAAACGAGGC	0.381																																																	0																																										SO:0001589	frameshift_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.762dupA	2.37:g.148674941_148674941dupA	ENSP00000241416:p.Glu253fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.R255fs	ENST00000241416.7	37	c.757_758	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.381	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	-	NM_001616		148674937	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
ADAM21	8747	genome.wustl.edu	37	14	70924696	70924697	+	Missense_Mutation	DNP	GA	GA	AG	rs77892318|rs386778613|rs45545935	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:70924696_70924697GA>AG	ENST00000603540.1	+	2	738_739	c.480_481GA>AG	c.(478-483)aaGAta>aaAGta	p.I161V	ADAM21_ENST00000267499.3_Missense_Mutation_p.I161V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	161				I -> V (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I161V(1)|p.K160K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGTTTATAAGATAAACAGTAA	0.426																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	stomach(2)																																								SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		Exception_encountered	14.37:g.70924696_70924697delinsAG	ENSP00000474385:p.Ile161Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43507|Q2VPC6|Q32MR0	Silent|Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K160|p.I161V	ENST00000603540.1	37	c.480|c.481	CCDS9804.1	14																																																																																			ADAM21	-	NULL		0.426	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G|A			70924696|70924697	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	silent|missense	SNP	0.001	A|G
ADAMTS10	81794	genome.wustl.edu	37	19	8649845	8649845	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:8649845G>A	ENST00000597188.1	-	25	3406	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R533W|AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R1046W	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1046	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGGGCGGCCGCAGGGCCTCC	0.726																																																	0													4.0	4.0	4.0					19																	8649845		1743	3224	4967	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3136C>T	19.37:g.8649845G>A	ENSP00000471851:p.Arg1046Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1046W	ENST00000597188.1	37	c.3136	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350538	0.82132	.	.	ENSG00000142303	ENST00000270328	T	0.54479	0.57	4.85	3.8	0.43715	.	0.186033	0.36972	U	0.002302	T	0.74405	0.3712	M	0.87097	2.86	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.80764	0.956;0.994	T	0.79200	-0.1901	10	0.87932	D	0	.	13.1761	0.59629	0.0:0.0:0.8296:0.1704	.	1046;533	Q9H324;E9PCI6	ATS10_HUMAN;.	W	1046	ENSP00000270328:R1046W	ENSP00000270328:R1046W	R	-	1	2	ADAMTS10	8555845	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	2.196000	0.42686	0.992000	0.38840	0.555000	0.69702	CGG	ADAMTS10	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.726	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	G	NM_030957		8649845	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKK1	255239	genome.wustl.edu	37	11	113270974	113270974	+	Silent	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr11:113270974C>T	ENST00000303941.3	+	8	2377	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	761							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGCCAGGAGCCGAGATGGAAA	0.577																																																	0													7.0	8.0	8.0					11																	113270974		1747	3781	5528	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2283C>T	11.37:g.113270974C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A761	ENST00000303941.3	37	c.2283	CCDS44734.1	11																																																																																			ANKK1	-	superfamily_Ankyrin_rpt-contain_dom		0.577	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	C	NM_178510		113270974	+1	no_errors	ENST00000303941	ensembl	human	known	70_37	silent	SNP	0.006	T
ASCC2	84164	genome.wustl.edu	37	22	30189461	30189461	+	Missense_Mutation	SNP	C	C	T	rs146488197		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr22:30189461C>T	ENST00000397771.2	-	18	1984	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	ASCC2_ENST00000307790.3_Missense_Mutation_p.E603K|ASCC2_ENST00000542393.1_Missense_Mutation_p.E527K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCAGGCTCTCGCCTGGCTGC	0.607																																																	0								C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73.0	57.0	62.0		1579,1807	5.2	0.7	22	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	ASCC2	NM_001242906.1,NM_032204.4	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	527/682,603/758	30189461	1,13005	2203	4300	6503	SO:0001583	missense	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1807G>A	22.37:g.30189461C>T	ENSP00000380877:p.Glu603Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.E603K	ENST00000397771.2	37	c.1807	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269681	0.40095	2.27E-4	0.0	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.09445	2.98;2.98;2.98	5.23	5.23	0.72850	.	0.235197	0.43260	D	0.000588	T	0.11836	0.0288	L	0.47716	1.5	0.45554	D	0.998503	B;B	0.25007	0.116;0.071	B;B	0.24006	0.05;0.014	T	0.10268	-1.0637	10	0.20046	T	0.44	-15.46	16.111	0.81263	0.0:1.0:0.0:0.0	.	527;603	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	K	603;603;527	ENSP00000305502:E603K;ENSP00000380877:E603K;ENSP00000437570:E527K	ENSP00000305502:E603K	E	-	1	0	ASCC2	28519461	0.504000	0.26123	0.690000	0.30148	0.298000	0.27526	2.446000	0.44908	2.722000	0.93159	0.609000	0.83330	GAG	ASCC2	-	NULL		0.607	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	C	NM_032204		30189461	-1	no_errors	ENST00000307790	ensembl	human	known	70_37	missense	SNP	0.900	T
ATRX	546	genome.wustl.edu	37	X	76778779	76778779	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chrX:76778779G>T	ENST00000373344.5	-	31	7014	c.6800C>A	c.(6799-6801)aCt>aAt	p.T2267N	ATRX_ENST00000395603.3_Missense_Mutation_p.T2229N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2267	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCTTCAGTCAACTCTTC	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													244.0	200.0	215.0					X																	76778779		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6800C>A	X.37:g.76778779G>T	ENSP00000362441:p.Thr2267Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T2267N	ENST00000373344.5	37	c.6800	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216719	0.39201	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93247	-3.18;-3.19	5.35	5.35	0.76521	.	0.068692	0.64402	U	0.000017	D	0.95465	0.8527	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.998;0.979	D;P	0.66351	0.943;0.814	D	0.95221	0.8334	10	0.46703	T	0.11	-8.6807	18.1671	0.89732	0.0:0.0:1.0:0.0	.	2229;2267	P46100-4;P46100	.;ATRX_HUMAN	N	2267;2229	ENSP00000362441:T2267N;ENSP00000378967:T2229N	ENSP00000362441:T2267N	T	-	2	0	ATRX	76665435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.989000	0.76219	2.228000	0.72767	0.538000	0.68166	ACT	ATRX	-	NULL		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76778779	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA12A	259217	genome.wustl.edu	37	10	118427793	118427793	+	IGR	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr10:118427793G>A	ENST00000369209.3	-	0	5722				RP11-498B4.5_ENST00000433600.1_RNA|C10orf82_ENST00000369210.3_Silent_p.L11L|C10orf82_ENST00000588184.1_Silent_p.L11L	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTGATTGGCAGGTTTCTCATG	0.542																																																	0													235.0	206.0	216.0					10																	118427793		2203	4300	6503	SO:0001628	intergenic_variant	143379			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107		10.37:g.118427793G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L11	ENST00000369209.3	37	c.31	CCDS41569.1	10																																																																																			C10orf82	-	NULL		0.542	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118427793	-1	no_errors	ENST00000588184	ensembl	human	known	70_37	silent	SNP	0.011	A
CDK6	1021	genome.wustl.edu	37	7	92300823	92300823	+	Silent	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:92300823G>A	ENST00000265734.4	-	5	975	c.564C>T	c.(562-564)ccC>ccT	p.P188P	CDK6_ENST00000424848.2_Silent_p.P188P	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAAGACTTCGGGTGCTCTGT	0.502			T	MLLT10	ALL																																			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													106.0	92.0	97.0					7																	92300823		2203	4300	6503	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.564C>T	7.37:g.92300823G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1G0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P188	ENST00000265734.4	37	c.564	CCDS5628.1	7																																																																																			CDK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.502	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	G			92300823	-1	no_errors	ENST00000265734	ensembl	human	known	70_37	silent	SNP	0.130	A
CELP	1057	genome.wustl.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785																0																																												1057			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-		0.677	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	T	NM_001808		135962465	+1	no_errors	ENST00000411440	ensembl	human	known	70_37	rna	DEL	0.000	-
CNTN4	152330	genome.wustl.edu	37	3	2185855	2185855	+	Intron	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr3:2185855C>T	ENST00000418658.1	+	2	135				CNTN4-AS2_ENST00000447256.2_lincRNA	NM_175607.2	NP_783200.1	Q8IWV2	CNTN4_HUMAN	contactin 4						axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCAGGTGGGACTGGAGCAATT	0.448																																																	0																																										SO:0001627	intron_variant	100873976			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000418658.1:c.-145+43532C>T	3.37:g.2185855C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAX3|Q8IX14|Q8TC35	RNA	SNP	-	NULL	ENST00000418658.1	37	NULL	CCDS43041.1	3																																																																																			CNTN4-AS2	-	-		0.448	CNTN4-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTN4-AS2	HGNC	protein_coding	OTTHUMT00000337405.2	C			2185855	-1	no_errors	ENST00000447256	ensembl	human	known	70_37	rna	SNP	0.004	T
COL2A1	1280	genome.wustl.edu	37	12	48386683	48386683	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:48386683C>T	ENST00000380518.3	-	16	1165	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	COL2A1_ENST00000337299.6_Missense_Mutation_p.R265Q	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	334	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGGCCAGTCCGTCCTCTTTC	0.537																																																	0													91.0	72.0	79.0					12																	48386683		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1001G>A	12.37:g.48386683C>T	ENSP00000369889:p.Arg334Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R334Q	ENST00000380518.3	37	c.1001	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626401	0.87560	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93307	-3.2;-3.2	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.72576	2.205	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.68483	0.958;0.909	D	0.95690	0.8739	10	0.49607	T	0.09	.	16.636	0.85060	0.0:1.0:0.0:0.0	.	265;334	P02458-1;P02458	.;CO2A1_HUMAN	Q	334;265;265	ENSP00000369889:R334Q;ENSP00000338213:R265Q	ENSP00000338213:R265Q	R	-	2	0	COL2A1	46672950	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.591000	0.67536	2.532000	0.85374	0.655000	0.94253	CGG	COL2A1	-	NULL		0.537	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48386683	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T
CPAMD8	27151	genome.wustl.edu	37	19	17132955	17132955	+	Silent	SNP	C	C	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:17132955C>G	ENST00000443236.1	-	2	301	c.270G>C	c.(268-270)gcG>gcC	p.A90A	CPAMD8_ENST00000388925.4_Silent_p.A43A	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	43						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCCACGCCCGCGCGAAAAA	0.602																																																	0													31.0	31.0	31.0					19																	17132955		1944	4138	6082	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.270G>C	19.37:g.17132955C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.A90	ENST00000443236.1	37	c.270	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	C	1.460	-0.562552	0.03939	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.06	-6.11	0.02131	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	.	1.3359	0.02145	0.2066:0.114:0.3255:0.3539	.	.	.	.	P	101	.	.	R	-	2	0	CPAMD8	16993955	0.002000	0.14202	0.649000	0.29536	0.204000	0.24138	-3.049000	0.00629	-1.295000	0.02357	-0.218000	0.12543	CGG	CPAMD8	-	NULL		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17132955	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	0.362	G
CRAMP1L	57585	genome.wustl.edu	37	16	1664952	1664952	+	Silent	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:1664952C>T	ENST00000397412.3	+	2	411	c.312C>T	c.(310-312)agC>agT	p.S104S	IFT140_ENST00000426508.2_5'Flank|CRAMP1L_ENST00000436138.3_Silent_p.S104S|CRAMP1L_ENST00000293925.5_Silent_p.S104S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	104						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGTGGGGAGCGGCAACGCCG	0.741																																																	0													4.0	9.0	7.0					16																	1664952		608	1506	2114	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.312C>T	16.37:g.1664952C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S104	ENST00000397412.3	37	c.312	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL		0.741	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	C			1664952	+1	no_errors	ENST00000293925	ensembl	human	known	70_37	silent	SNP	0.962	T
CTNNA2	1496	genome.wustl.edu	37	2	80540713	80540713	+	Intron	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:80540713G>A	ENST00000402739.4	+	7	1061				CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000343114.3_Silent_p.Q9Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ggccactccagtcagtaggca	0.453																																																	0													47.0	41.0	43.0					2																	80540713		876	1991	2867	SO:0001627	intron_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1057-79623G>A	2.37:g.80540713G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q9	ENST00000402739.4	37	c.27		2																																																																																			CTNNA2	-	NULL		0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	G	NM_004389		80540713	+1	no_errors	ENST00000343114	ensembl	human	putative	70_37	silent	SNP	0.000	A
CYP4F12	66002	genome.wustl.edu	37	19	15806798	15806798	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:15806798A>T	ENST00000550308.1	+	10	1548	c.1168A>T	c.(1168-1170)Agg>Tgg	p.R390W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R390W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	390					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGAGAGCCTGAGGTTACATCC	0.582																																																	0													96.0	93.0	94.0					19																	15806798		2203	4300	6503	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1168A>T	19.37:g.15806798A>T	ENSP00000448998:p.Arg390Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R390W	ENST00000550308.1	37	c.1168	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433075	0.25813	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.97505	-4.41;-4.41	2.41	0.216	0.15258	.	0.000000	0.64402	U	0.000002	D	0.98826	0.9604	H	0.99368	4.535	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.96106	0.9073	10	0.87932	D	0	.	4.9778	0.14149	0.2075:0.6657:0.0:0.1269	.	390	Q9HCS2	CP4FC_HUMAN	W	390	ENSP00000448998:R390W;ENSP00000321821:R390W	ENSP00000321821:R390W	R	+	1	2	CYP4F12	15667798	0.997000	0.39634	0.789000	0.31954	0.043000	0.13939	0.742000	0.26216	0.126000	0.18424	-2.506000	0.00189	AGG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	A			15806798	+1	no_errors	ENST00000324632	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP2A6	1548	genome.wustl.edu	37	19	41354661	41354661	+	Silent	SNP	T	T	C	rs79584535		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:41354661T>C	ENST00000301141.5	-	3	371	c.351A>G	c.(349-351)gtA>gtG	p.V117V	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	117					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CGTTGCTGAATACCACGCCTG	0.697																																																	0													18.0	20.0	19.0					19																	41354661		2201	4299	6500	SO:0001819	synonymous_variant	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.351A>G	19.37:g.41354661T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.V117	ENST00000301141.5	37	c.351	CCDS12568.1	19																																																																																			CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.697	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	T	NM_000762		41354661	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	silent	SNP	0.000	C
DCAF10	79269	genome.wustl.edu	37	9	37863321	37863321	+	3'UTR	SNP	T	T	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr9:37863321T>A	ENST00000377724.3	+	0	3861				DCAF10_ENST00000483167.1_3'UTR|DCAF10_ENST00000242323.7_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						agactctgtctcaaaaaaaaa	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	79269			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.*1816T>A	9.37:g.37863321T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	RNA	SNP	-	NULL	ENST00000377724.3	37	NULL	CCDS6613.2	9																																																																																			DCAF10	-	-		0.398	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	T	NM_024345		37863321	+1	no_errors	ENST00000483167	ensembl	human	known	70_37	rna	SNP	0.002	A
DLGAP1	9229	genome.wustl.edu	37	18	4264667	4264667	+	Intron	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr18:4264667G>A	ENST00000315677.3	-	2	330				DLGAP1-AS5_ENST00000565759.1_RNA|DLGAP1_ENST00000581527.1_Intron|DLGAP1-AS5_ENST00000565979.1_RNA|DLGAP1-AS5_ENST00000568986.1_RNA|DLGAP1-AS5_ENST00000565811.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TAGCAGCCAAGGATGGGAATT	0.453																																																	0																																										SO:0001627	intron_variant	284215			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.266-113380C>T	18.37:g.4264667G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	RNA	SNP	-	NULL	ENST00000315677.3	37	NULL	CCDS11836.1	18																																																																																			DLGAP1-AS5	-	-		0.453	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1-AS5	HGNC	protein_coding	OTTHUMT00000254394.4	G			4264667	+1	no_errors	ENST00000565759	ensembl	human	known	70_37	rna	SNP	0.000	A
DNAH5	1767	genome.wustl.edu	37	5	13868103	13868104	+	Splice_Site	INS	-	-	A	rs397769827|rs35398031|rs565809733|rs376631255	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr5:13868103_13868104insA	ENST00000265104.4	-	25	3939		c.e25-2		CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATAAGATTCCTAAAAAAAAATA	0.361									Kartagener syndrome																																								0																																										SO:0001630	splice_region_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3835-2->T	5.37:g.13868112_13868112dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	INS	-	e25-2	ENST00000265104.4	37	c.3835-3_3835-2	CCDS3882.1	5																																																																																			DNAH5	-	-		0.361	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	NM_001369	Intron	13868104	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	splice_site_ins	INS	0.997:0.001	A
DNM1P46	196968	genome.wustl.edu	37	15	100340349	100340349	+	RNA	SNP	C	C	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr15:100340349C>A	ENST00000341853.1	-	0	577					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTCTGAGAAGCAGCATCTCGT	0.622																																																	0													13.0	17.0	16.0					15																	100340349		1162	3107	4269			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340349C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-		0.622	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	C	NR_003260		100340349	-1	no_errors	ENST00000341853	ensembl	human	known	70_37	rna	SNP	1.000	A
DPY19L2P1	554236	genome.wustl.edu	37	7	35120233	35120233	+	IGR	SNP	A	A	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:35120233A>T								DPY19L1 (42580 upstream) : DPY19L2P1 (9222 downstream)																							AGAAAACATGACTTTCCTCAT	0.348																																																	0																																										SO:0001628	intergenic_variant	554236																															7.37:g.35120233A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			DPY19L2P1	-	-	0	0.348					DPY19L2P1	HGNC			A			35120233	-1	no_errors	ENST00000458672	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC102546299	102546299	genome.wustl.edu	37	5	164362180	164362180	+	RNA	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr5:164362180C>T	ENST00000519570.1	+	0	407				CTC-340A15.2_ENST00000522646.1_RNA|RNU6-209P_ENST00000384118.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA																							aaatatggaacgcttcatgaa	0.388																																																	0																																												0																															5.37:g.164362180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000519570.1	37	NULL		5																																																																																			U6	-	-		0.388	CTC-340A15.2-009	KNOWN	basic	antisense	ENSG00000206845	RFAM	antisense	OTTHUMT00000376021.1	C			164362180	-1	no_errors	ENST00000384118	ensembl	human	novel	70_37	rna	SNP	0.000	T
PRKX	5613	genome.wustl.edu	37	X	3559500	3559500	+	Intron	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chrX:3559500G>A	ENST00000262848.5	-	4	1074				Y_RNA_ENST00000384590.1_RNA|PRKX_ENST00000425240.1_Intron	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ctaaacaagcgcagaagtgat	0.413													g|||	1	0.000264901	0.0	0.0	3775	,	,		11224	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.719+392C>T	X.37:g.3559500G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000262848.5	37	NULL	CCDS14125.1	X																																																																																			Y_RNA	-	-		0.413	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000207320	RFAM	protein_coding	OTTHUMT00000055659.1	G	NM_005044		3559500	-1	no_errors	ENST00000384590	ensembl	human	novel	70_37	rna	SNP	0.001	A
RP5-1125N11.1	0	genome.wustl.edu	37	1	31283553	31283553	+	lincRNA	SNP	T	T	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:31283553T>G	ENST00000440358.1	-	0	115																											TGGGTTCAAATGAGTTTCCCT	0.478																																																	0																																												0																															1.37:g.31283553T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440358.1	37	NULL		1																																																																																			RP5-1125N11.1	-	-		0.478	RP5-1125N11.1-001	KNOWN	basic	lincRNA	ENSG00000229607	Clone_based_vega_gene	lincRNA	OTTHUMT00000010457.1	T			31283553	-1	no_errors	ENST00000440358	ensembl	human	known	70_37	rna	SNP	0.000	G
RP5-968J1.1	0	genome.wustl.edu	37	20	1791852	1791852	+	lincRNA	SNP	C	C	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr20:1791852C>A	ENST00000447206.1	-	0	56																											CTCTCCACTTCCTGTAGTTTG	0.463																																																	0																																												0																															20.37:g.1791852C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000447206.1	37	NULL		20																																																																																			RP5-968J1.1	-	-		0.463	RP5-968J1.1-001	KNOWN	basic	lincRNA	ENSG00000230839	Clone_based_vega_gene	lincRNA	OTTHUMT00000077567.1	C			1791852	-1	no_errors	ENST00000447206	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC01122	400955	genome.wustl.edu	37	2	59290199	59290199	+	lincRNA	SNP	G	G	A	rs534232877	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:59290199G>A	ENST00000452840.1	+	0	3375																											cgtacctgtagtcccagctac	0.493																																																	0																																												0																															2.37:g.59290199G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000452840.1	37	NULL		2																																																																																			AC007092.1	-	-		0.493	AC007092.1-001	KNOWN	basic	lincRNA	ENSG00000233723	Clone_based_vega_gene	lincRNA	OTTHUMT00000327022.1	G			59290199	+1	no_errors	ENST00000452840	ensembl	human	known	70_37	rna	SNP	0.147	A
RP3-470B24.5	0	genome.wustl.edu	37	6	168376967	168376968	+	lincRNA	INS	-	-	G	rs74216590|rs200262961		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr6:168376967_168376968insG	ENST00000538528.1	-	0	651_652																											CTGCAGTGTGTTGGGAGGAGGA	0.634																																																	0																																												0																															6.37:g.168376967_168376968insG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-		0.634	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA		-			168376968	-1	no_errors	ENST00000538528	ensembl	human	known	70_37	rna	INS	0.009:0.005	G
RP3-470B24.5	0	genome.wustl.edu	37	6	168376968	168376969	+	lincRNA	INS	-	-	G	rs74216590|rs200262961		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr6:168376968_168376969insG	ENST00000538528.1	-	0	650_651																											TGCAGTGTGTTGGGAGGAGGAG	0.639																																																	0																																												0																															6.37:g.168376971_168376971dupG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-		0.639	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA		-			168376969	-1	no_errors	ENST00000538528	ensembl	human	known	70_37	rna	INS	0.005:0.007	G
AC139712.4	0	genome.wustl.edu	37	2	52725890	52725890	+	lincRNA	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:52725890C>T	ENST00000443926.1	-	0	242																											attaatacaCCATGTGTTCAG	0.338																																																	0																																												0																															2.37:g.52725890C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000443926.1	37	NULL		2																																																																																			AC139712.4	-	-		0.338	AC139712.4-001	KNOWN	basic	lincRNA	ENSG00000236837	Clone_based_vega_gene	lincRNA	OTTHUMT00000325653.1	C			52725890	-1	no_errors	ENST00000443926	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143399181	143399181	+	lincRNA	SNP	T	T	G	rs61799769		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:143399181T>G	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							TTGCCCAAATTTCAGCTGTTT	0.308																																																	0																																												0																															1.37:g.143399181T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.308	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	T			143399181	+1	no_errors	ENST00000458155	ensembl	human	known	70_37	rna	SNP	0.000	G
LOC101927648	101927648	genome.wustl.edu	37	1	143401698	143401698	+	lincRNA	SNP	C	C	T	rs2939144		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:143401698C>T	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							CAATTCCATTCTGCATCTTTT	0.527																																																	0																																												0																															1.37:g.143401698C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.527	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	C			143401698	+1	no_errors	ENST00000433980	ensembl	human	known	70_37	rna	SNP	0.824	T
FIP1L1	81608	genome.wustl.edu	37	4	54603064	54603064	+	Intron	SNP	A	A	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:54603064A>T	ENST00000507166.1	+	12	1017				RP11-317M11.1_ENST00000506950.1_RNA			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTTAAAGATAAAAGATTTAT	0.254			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										SO:0001627	intron_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000507166.1:c.1017+310932A>T	4.37:g.54603064A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	RNA	SNP	-	NULL	ENST00000507166.1	37	NULL		4																																																																																			RP11-317M11.1	-	-		0.254	FIP1L1-005	NOVEL	basic|appris_principal	protein_coding	ENSG00000249341	Clone_based_vega_gene	protein_coding	OTTHUMT00000361317.2	A	NM_030917		54603064	+1	no_errors	ENST00000508112	ensembl	human	known	70_37	rna	SNP	0.007	T
RNU6-1315P	106481950	genome.wustl.edu	37	12	3063425	3063425	+	RNA	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:3063425C>T	ENST00000517187.1	-	0	79									RNA, U6 small nuclear 1315, pseudogene																		gaagacttcacgaatttgtga	0.448																																																	0																																												0					12p13.33	2013-05-01			ENSG00000252996	ENSG00000252996			48278	pseudogene	RNA, pseudogene							Standard			Approved						12.37:g.3063425C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000517187.1	37	NULL		12																																																																																			U6	-	-		0.448	RNU6-1315P-201	KNOWN	basic	snRNA	ENSG00000252996	RFAM	snRNA		C			3063425	-1	no_errors	ENST00000517187	ensembl	human	novel	70_37	rna	SNP	0.049	T
FAM92A1	137392	genome.wustl.edu	37	8	94733096	94733097	+	Intron	INS	-	-	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:94733096_94733097insA	ENST00000518322.1	+	7	798				FAM92A1_ENST00000423990.2_Intron|FAM92A1_ENST00000519679.1_Intron|FAM92A1_ENST00000517718.1_Intron|RP11-10N23.2_ENST00000520562.1_RNA	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1											NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			agactccatccaaaaaaaaaaa	0.396																																																	0																																										SO:0001627	intron_variant	0				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.657+2080->A	8.37:g.94733107_94733107dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	RNA	INS	-	NULL	ENST00000518322.1	37	NULL	CCDS47892.1	8																																																																																			RP11-10N23.2	-	-		0.396	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253854	Clone_based_vega_gene	protein_coding	OTTHUMT00000377890.4	-	NM_145269		94733097	+1	no_errors	ENST00000520562	ensembl	human	known	70_37	rna	INS	0.014:0.000	A
COLEC10	10584	genome.wustl.edu	37	8	120080181	120080181	+	Intron	SNP	A	A	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:120080181A>G	ENST00000332843.2	+	1	189				RP11-278I4.2_ENST00000518362.1_RNA|COLEC10_ENST00000521788.1_Intron	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)							collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATTGAAGGTAGTATATAAAT	0.338																																																	0																																										SO:0001627	intron_variant	0			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.148+513A>G	8.37:g.120080181A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYH6|Q6UW19	RNA	SNP	-	NULL	ENST00000332843.2	37	NULL	CCDS6327.1	8																																																																																			RP11-278I4.2	-	-		0.338	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254278	Clone_based_vega_gene	protein_coding	OTTHUMT00000381225.1	A			120080181	-1	no_errors	ENST00000518362	ensembl	human	known	70_37	rna	SNP	0.001	G
LOC646522	646522	genome.wustl.edu	37	11	133654041	133654041	+	lincRNA	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr11:133654041C>T	ENST00000526254.1	-	0	499																											tagggtatgccgtaatcccat	0.453																																																	0																																												0																															11.37:g.133654041C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000526254.1	37	NULL		11																																																																																			RP11-448P19.1	-	-		0.453	RP11-448P19.1-001	KNOWN	basic	lincRNA	ENSG00000255258	Clone_based_vega_gene	lincRNA	OTTHUMT00000393279.1	C			133654041	-1	no_errors	ENST00000526254	ensembl	human	known	70_37	rna	SNP	0.000	T
C16orf59	80178	genome.wustl.edu	37	16	2515189	2515189	+	IGR	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:2515189C>T	ENST00000361837.4	+	0	1662				RP11-715J22.2_ENST00000563775.1_RNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59											lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				accatgtgggccaggctggtc	0.488																																																	0																																										SO:0001628	intergenic_variant	0			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859		16.37:g.2515189C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXD7|Q96H61|Q9H872	RNA	SNP	-	NULL	ENST00000361837.4	37	NULL	CCDS10468.2	16																																																																																			RP11-715J22.2	-	-		0.488	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259895	Clone_based_vega_gene	protein_coding	OTTHUMT00000250802.3	C	NM_025108		2515189	-1	no_errors	ENST00000563775	ensembl	human	known	70_37	rna	SNP	0.054	T
HSF5	124535	genome.wustl.edu	37	17	56533492	56533492	+	Intron	SNP	G	G	A	rs201872755		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:56533492G>A	ENST00000323777.3	-	5	1830				AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					atatatatatgtgtgtgtgta	0.333																																																	0																																										SO:0001627	intron_variant	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1720+2636C>T	17.37:g.56533492G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08EH7|Q8N7V2	RNA	SNP	-	NULL	ENST00000323777.3	37	NULL	CCDS32690.1	17																																																																																			AC023992.1	-	-		0.333	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266051	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000444719.1	G	XM_064190		56533492	-1	no_errors	ENST00000581197	ensembl	human	novel	70_37	rna	SNP	0.008	A
RP11-1055B8.2	0	genome.wustl.edu	37	17	79349960	79349960	+	lincRNA	SNP	C	C	T	rs368608296		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:79349960C>T	ENST00000574472.1	+	0	1330				RP11-1055B8.3_ENST00000596728.1_lincRNA																							ttggagaccccggctaacaca	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18944	0.001		0.0	False		,,,				2504	0.0																0																																												0																															17.37:g.79349960C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574472.1	37	NULL		17																																																																																			RP11-1055B8.3	-	-		0.532	RP11-1055B8.2-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000262223	Clone_based_vega_gene	lincRNA	OTTHUMT00000439894.1	C			79349960	-1	no_errors	ENST00000570301	ensembl	human	known	70_37	rna	SNP	0.011	T
FAM115C	285966	genome.wustl.edu	37	7	143417362	143417362	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:143417362G>A	ENST00000441159.2	+	3	1276	c.1210G>A	c.(1210-1212)Gtt>Att	p.V404I	FAM115C_ENST00000425618.2_Missense_Mutation_p.V123I|FAM115C_ENST00000357344.4_Missense_Mutation_p.V404I|FAM115C_ENST00000409703.3_Missense_Mutation_p.V240I|FAM115C_ENST00000411935.1_Missense_Mutation_p.V240I|FAM115C_ENST00000444908.2_Missense_Mutation_p.V404I|FAM115C_ENST00000411497.2_Missense_Mutation_p.V123I			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	404					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CTGCTTCCCCGTTCCCACCCC	0.557																																																	0													1.0	1.0	1.0					7																	143417362		38	57	95	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1210G>A	7.37:g.143417362G>A	ENSP00000404265:p.Val404Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.V404I	ENST00000441159.2	37	c.1210		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	1.572|1.572	-0.533869|-0.533869	0.04082|0.04082	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|.	.|.	.|.	3.53|3.53	-3.54|-3.54	0.04653|0.04653	.|.	.|0.646131	.|0.15514	.|N	.|0.258379	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.30326	.|0.276;0.034;0.027;0.057	.|B;B;B;B	.|0.23018	.|0.043;0.009;0.015;0.031	T|T	0.10086|0.10086	-1.0645|-1.0645	5|9	.|0.26408	.|T	.|0.33	-17.9062|-17.9062	8.9566|8.9566	0.35820|0.35820	0.6197:0.0:0.3803:0.0|0.6197:0.0:0.3803:0.0	.|.	.|240;404;123;404	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	H|I	218|404;123;404;404;240;240;123	.|.	.|ENSP00000349902:V404I	R|V	+|+	2|1	0|0	FAM115C|FAM115C	143048295|143048295	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.109000|0.109000	0.15417|0.15417	-0.977000|-0.977000	0.03537|0.03537	-1.909000|-1.909000	0.00523|0.00523	CGT|GTT	FAM115C	-	NULL		0.557	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143417362	+1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.006	A
FAM225B	100128385	genome.wustl.edu	37	9	115867593	115867593	+	lincRNA	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr9:115867593C>T	ENST00000439875.1	-	0	5404									family with sequence similarity 225, member B (non-protein coding)																		caggactgtgctggggctcct	0.552																																																	0																																												100128385			BX647840		9q32	2012-10-16	2012-07-04	2012-07-04	ENSG00000225684	ENSG00000225684		"""Long non-coding RNAs"""	21865	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 110"", ""non-protein coding RNA 256B"", ""long intergenic non-protein coding RNA 256B"""	C9orf110, NCRNA00256B, LINC00256B			Standard	NR_024376		Approved		uc004bgn.5		OTTHUMG00000020515		9.37:g.115867593C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000439875.1	37	NULL		9																																																																																			FAM225B	-	-		0.552	FAM225B-002	KNOWN	basic	lincRNA	FAM225B	HGNC	lincRNA	OTTHUMT00000144714.2	C	NR_024376		115867593	-1	no_errors	ENST00000423546	ensembl	human	known	70_37	rna	SNP	0.016	T
FBXW7	55294	genome.wustl.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:153249384C>A	ENST00000281708.4	-	9	2623	c.1394G>T	c.(1393-1395)cGt>cTt	p.R465L	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)											253.0	218.0	230.0					4																	153249384		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>T	4.37:g.153249384C>A	ENSP00000281708:p.Arg465Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465L	ENST00000281708.4	37	c.1394	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.139751	0.94560	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.50701	-0.8797	10	0.42905	T	0.14	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	465;347;385;289	ENSP00000281708:R465L;ENSP00000296555:R347L;ENSP00000263981:R385L;ENSP00000377528:R289L	ENSP00000263981:R385L	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153249384	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A
FGF20	26281	genome.wustl.edu	37	8	16859521	16859521	+	Silent	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:16859521G>A	ENST00000180166.5	-	1	169	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	7					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAAAGCCCCCGACTTCGGCTA	0.637																																																	0													3.0	4.0	4.0					8																	16859521		1773	3765	5538	SO:0001819	synonymous_variant	26281			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.21C>T	8.37:g.16859521G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPH5	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.V7	ENST00000180166.5	37	c.21	CCDS5998.1	8																																																																																			FGF20	-	NULL		0.637	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF20	HGNC	protein_coding	OTTHUMT00000214030.1	G			16859521	-1	no_errors	ENST00000180166	ensembl	human	known	70_37	silent	SNP	0.997	A
LINC01597	400841	genome.wustl.edu	37	20	29516567	29516567	+	lincRNA	SNP	G	G	A	rs67808748		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr20:29516567G>A	ENST00000380888.3	-	0	342																											cgacgggaacgtctccagatg	0.647																																																	0																																												400841																															20.37:g.29516567G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000380888.3	37	NULL		20																																																																																			RP4-610C12.4	-	-		0.647	RP4-610C12.4-001	KNOWN	basic	lincRNA	FLJ45832	Clone_based_vega_gene	lincRNA	OTTHUMT00000256907.1	G			29516567	-1	no_errors	ENST00000380888	ensembl	human	known	70_37	rna	SNP	0.005	A
GNPAT	8443	genome.wustl.edu	37	1	231402067	231402067	+	Silent	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:231402067C>T	ENST00000366647.4	+	8	1138	c.969C>T	c.(967-969)agC>agT	p.S323S	GNPAT_ENST00000366646.3_Silent_p.S262S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	323					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATTTTGGAAGCATCCATGTGT	0.428																																																	0													103.0	102.0	102.0					1																	231402067		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.969C>T	1.37:g.231402067C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S323	ENST00000366647.4	37	c.969	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	C			231402067	+1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	0.999	T
KIAA0556	23247	genome.wustl.edu	37	16	27642395	27642395	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:27642395G>A	ENST00000261588.4	+	5	339	c.320G>A	c.(319-321)cGa>cAa	p.R107Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	107						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATTATGGACGAAGAACTCTG	0.517																																																	0													45.0	35.0	38.0					16																	27642395		2194	4297	6491	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.320G>A	16.37:g.27642395G>A	ENSP00000261588:p.Arg107Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.R107Q	ENST00000261588.4	37	c.320	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	3.611	-0.079605	0.07141	.	.	ENSG00000047578	ENST00000261588	T	0.40476	1.03	4.85	0.677	0.17964	.	0.704330	0.12385	N	0.473529	T	0.34106	0.0886	L	0.60455	1.87	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.28618	-1.0038	10	0.22706	T	0.39	-3.9413	7.1135	0.25403	0.3826:0.0:0.6174:0.0	.	107	O60303	K0556_HUMAN	Q	107	ENSP00000261588:R107Q	ENSP00000261588:R107Q	R	+	2	0	KIAA0556	27549896	0.855000	0.29742	0.380000	0.26093	0.081000	0.17604	0.419000	0.21247	-0.107000	0.12088	-0.263000	0.10527	CGA	KIAA0556	-	NULL		0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27642395	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.298	A
GNB3	2784	genome.wustl.edu	37	12	6948853	6948853	+	5'Flank	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:6948853G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GNB3_ENST00000435982.2_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCCCGCTGCCGGACCTGCAGC	0.627													G|||	3	0.000599042	0.0	0.0	5008	,	,		-128	0.002		0.001	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	10536				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948853G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96B71|Q9BQC0	RNA	SNP	-	NULL	ENST00000229264.3	37	NULL	CCDS8564.1	12																																																																																			LEPREL2	-	-		0.627	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL2	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6948853	+1	no_errors	ENST00000251761	ensembl	human	known	70_37	rna	SNP	0.003	A
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC00652	29075	genome.wustl.edu	37	20	18772659	18772659	+	lincRNA	SNP	A	A	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr20:18772659A>G	ENST00000412553.1	-	0	329				RP5-1068E13.7_ENST00000609087.1_lincRNA	NR_026884.1				long intergenic non-protein coding RNA 652																		cttgtgtaggatgtcttgccc	0.468																																																	0																																												29075			AF161557, BC029555		20p11.23	2012-10-12			ENSG00000179935	ENSG00000179935		"""Long non-coding RNAs"""	25003	non-coding RNA	RNA, long non-coding						11042152	Standard	NR_026883		Approved	HSPC072	uc002wrh.3		OTTHUMG00000031986		20.37:g.18772659A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000412553.1	37	NULL		20																																																																																			LINC00652	-	-		0.468	LINC00652-003	KNOWN	basic	lincRNA	LINC00652	HGNC	lincRNA	OTTHUMT00000078198.1	A	NR_026883		18772659	-1	no_errors	ENST00000454749	ensembl	human	known	70_37	rna	SNP	0.000	G
RFX4	5992	genome.wustl.edu	37	12	107074753	107074753	+	Intron	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:107074753C>T	ENST00000392842.1	+	5	729				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Intron|RP11-482D24.2_ENST00000547531.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ttcaggtagtcgagttccaga	0.463																																																	0																																										SO:0001627	intron_variant	100505978			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.316-1018C>T	12.37:g.107074753C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	RNA	SNP	-	NULL	ENST00000392842.1	37	NULL	CCDS9106.1	12																																																																																			RP11-482D24.2	-	-		0.463	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100505978	Clone_based_vega_gene	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107074753	-1	no_errors	ENST00000547531	ensembl	human	known	70_37	rna	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	14	19692764	19692764	+	IGR	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:19692764C>T								AL589743.1 (5199 upstream) : RP11-496I2.2 (47268 downstream)																							ACAATGAAAACAAACTTAGTA	0.403																																																	0																																										SO:0001628	intergenic_variant	100506303																															14.37:g.19692764C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		14																																																																																			AL589743.1	-	-	0	0.403					LOC100506303	Clone_based_vega_gene			C			19692764	+1	no_errors	ENST00000431094	ensembl	human	known	70_37	rna	SNP	0.022	T
MICAL3	57553	genome.wustl.edu	37	22	18359611	18359611	+	Intron	SNP	T	T	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr22:18359611T>G	ENST00000441493.2	-	17	2594				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Intron|MICAL3_ENST00000383094.3_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ttagggaggttagggaggtta	0.502																																																	0																																										SO:0001627	intron_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2242-4822A>C	22.37:g.18359611T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	RNA	SNP	-	NULL	ENST00000441493.2	37	NULL	CCDS46659.1	22																																																																																			MICAL3	-	-		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	T			18359611	-1	no_errors	ENST00000465886	ensembl	human	putative	70_37	rna	SNP	0.001	G
MT1H	4496	genome.wustl.edu	37	16	56704434	56704434	+	Silent	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:56704434C>T	ENST00000332374.4	+	2	116	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1H_ENST00000569155.1_Silent_p.C15C|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	15	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CCTGCGCCTGCGCCGGCTCCT	0.552																																																	0													76.0	73.0	74.0					16																	56704434		2198	4300	6498	SO:0001819	synonymous_variant	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.45C>T	16.37:g.56704434C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUY6	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.C15	ENST00000332374.4	37	c.45	CCDS10767.1	16																																																																																			MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.552	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	C	NM_005951		56704434	+1	no_errors	ENST00000332374	ensembl	human	known	70_37	silent	SNP	0.053	T
MYH1	4619	genome.wustl.edu	37	17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	rs142605633	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:10404045C>T	ENST00000226207.5	-	28	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1255					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1255T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	0,4406		0,0,2203	146.0	129.0	135.0		3763	3.1	0.1	17	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH1	NM_005963.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1255/1940	10404045	2,13004	2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3763G>A	17.37:g.10404045C>T	ENSP00000226207:p.Ala1255Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1255T	ENST00000226207.5	37	c.3763	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	2.155	-0.393510	0.04899	0.0	2.33E-4	ENSG00000109061	ENST00000226207	D	0.82433	-1.61	5.45	3.12	0.35913	Myosin tail (1);	0.320500	0.22216	N	0.063022	T	0.47930	0.1472	N	0.00468	-1.46	0.26872	N	0.967733	B	0.02656	0.0	B	0.04013	0.001	T	0.49103	-0.8974	10	0.02654	T	1	.	9.6684	0.39998	0.0:0.2075:0.0:0.7925	.	1255	P12882	MYH1_HUMAN	T	1255	ENSP00000226207:A1255T	ENSP00000226207:A1255T	A	-	1	0	MYH1	10344770	0.018000	0.18449	0.146000	0.22360	0.752000	0.42762	0.160000	0.16462	0.445000	0.26639	-0.300000	0.09419	GCT	MYH1	-	pfam_Myosin_tail,superfamily_Prefoldin		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10404045	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	0.905	T
MIR612	693197	genome.wustl.edu	37	11	65199970	65199970	+	IGR	SNP	T	T	C			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr11:65199970T>C								FRMD8 (18974 upstream) : NEAT1 (11958 downstream)																							ACTTTTTCTTTAGTAGCTAAA	0.264																																																	0																																										SO:0001628	intergenic_variant	283131																															11.37:g.65199970T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		11																																																																																			NEAT1	-	-	0	0.264					NEAT1	HGNC			T			65199970	+1	no_errors	ENST00000501122	ensembl	human	known	70_37	rna	SNP	0.879	C
OTOF	9381	genome.wustl.edu	37	2	26680943	26680943	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:26680943G>C	ENST00000272371.2	-	0	6283				OTOF_ENST00000339598.3_Missense_Mutation_p.P1220A|OTOF_ENST00000338581.6_3'UTR|OTOF_ENST00000402415.3_3'UTR|OTOF_ENST00000403946.3_Missense_Mutation_p.P1987A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTAGCCAGGGAGGCTGTAG	0.592																																					GBM(102;732 1451 20652 24062 31372)												0													83.0	79.0	80.0					2																	26680943		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.*163C>G	2.37:g.26680943G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.P1220A	ENST00000272371.2	37	c.3658	CCDS1725.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.700549|4.700549	0.88924|0.88924	.|.	.|.	ENSG00000115155|ENSG00000115155	ENST00000339598;ENST00000403946|ENST00000361394	D;D|.	0.89810|.	-2.16;-2.57|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|.	.|.	.|.	.|.	T|T	0.76835|0.76835	0.4043|0.4043	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.80837|0.80837	-0.1204|-0.1204	8|5	0.87932|0.87932	D|D	0|0	.|.	17.426|17.426	0.87526|0.87526	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1220|.	Q9HC10-2|.	.|.	A|R	1220;1987|67	ENSP00000344521:P1220A;ENSP00000385255:P1987A|.	ENSP00000344521:P1220A|ENSP00000354472:P67R	P|P	-|-	1|2	0|0	OTOF|OTOF	26534447|26534447	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.970000|0.970000	0.65996|0.65996	9.746000|9.746000	0.98859|0.98859	2.203000|2.203000	0.70933|0.70933	0.551000|0.551000	0.68910|0.68910	CCT|CCC	OTOF	-	NULL		0.592	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	G			26680943	-1	no_errors	ENST00000339598	ensembl	human	known	70_37	missense	SNP	1.000	C
PPL	5493	genome.wustl.edu	37	16	4949362	4949362	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:4949362C>A	ENST00000345988.2	-	7	719	c.630G>T	c.(628-630)caG>caT	p.Q210H	PPL_ENST00000590782.2_Missense_Mutation_p.Q208H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	210					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AACTCAGGTGCTGCTGCCGGG	0.647																																																	0													43.0	37.0	39.0					16																	4949362		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.630G>T	16.37:g.4949362C>A	ENSP00000340510:p.Gln210His	Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q210H	ENST00000345988.2	37	c.630	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911264	0.72983	.	.	ENSG00000118898	ENST00000345988	D	0.93366	-3.21	4.93	4.93	0.64822	.	0.232684	0.37348	N	0.002122	D	0.93825	0.8025	L	0.35644	1.08	0.33306	D	0.565407	D	0.62365	0.991	P	0.57548	0.823	D	0.96028	0.9014	10	0.72032	D	0.01	.	18.1262	0.89586	0.0:1.0:0.0:0.0	.	210	O60437	PEPL_HUMAN	H	210	ENSP00000340510:Q210H	ENSP00000340510:Q210H	Q	-	3	2	PPL	4889363	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.296000	0.43584	2.446000	0.82766	0.561000	0.74099	CAG	PPL	-	smart_Spectrin/alpha-actinin		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4949362	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKD1	5587	genome.wustl.edu	37	14	30066911	30066911	+	Silent	SNP	C	C	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:30066911C>A	ENST00000331968.5	-	16	2449	c.2220G>T	c.(2218-2220)cgG>cgT	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCACTGACCTCCGGAAAGACT	0.483																																																	0													74.0	75.0	74.0					14																	30066911		2203	4300	6503	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2220G>T	14.37:g.30066911C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2220	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30066911	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	silent	SNP	1.000	A
PROCR	10544	genome.wustl.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T	rs200377875		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)											20.0	17.0	18.0					20																	33762727		2194	4296	6490	SO:0001583	missense	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.293G>T	20.37:g.33762727G>T	ENSP00000216968:p.Arg98Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.R98L	ENST00000216968.4	37	c.293	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	g	26.5	4.741327	0.89573	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82984	-1.67	5.22	-10.4	0.00318	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.402480	0.04770	N	0.427767	T	0.71837	0.3387	L	0.51422	1.61	0.09310	N	1	B	0.30179	0.271	B	0.28385	0.089	T	0.61227	-0.7105	10	0.56958	D	0.05	-6.7275	4.9914	0.14216	0.5133:0.0:0.1891:0.2976	.	98	Q9UNN8	EPCR_HUMAN	L	98	ENSP00000216968:R98L	ENSP00000216968:R98L	R	+	2	0	PROCR	33226388	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-3.074000	0.00617	-2.082000	0.00868	0.556000	0.70494	CGC	PROCR	-	superfamily_MHC_I/II-like_Ag-recog		0.726	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	G			33762727	+1	no_errors	ENST00000216968	ensembl	human	known	70_37	missense	SNP	0.004	T
SH3GLB1	51100	genome.wustl.edu	37	1	87188292	87188292	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:87188292C>T	ENST00000370558.4	+	4	737	c.413C>T	c.(412-414)aCg>aTg	p.T138M	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.T38M|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.T138M	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CTGATTCAAACGTCAGCCTTA	0.313																																																	0													89.0	106.0	101.0					1																	87188292		2203	4297	6500	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.413C>T	1.37:g.87188292C>T	ENSP00000473267:p.Thr138Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.T138M	ENST00000370558.4	37	c.413	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236798	0.79800	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.64260	-0.09;-0.09	5.73	5.73	0.89815	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.089843	0.85682	D	0.000000	T	0.75228	0.3821	M	0.74881	2.28	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.897	D;P;B	0.63597	0.916;0.897;0.393	T	0.76358	-0.2988	10	0.62326	D	0.03	-1.7537	19.8983	0.96975	0.0:1.0:0.0:0.0	.	38;138;138	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	M	138;38;138	ENSP00000441355:T38M;ENSP00000418744:T138M	ENSP00000212369:T138M	T	+	2	0	SH3GLB1	86960880	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.690000	0.61731	2.718000	0.92993	0.650000	0.86243	ACG	SH3GLB1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.313	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	C	NM_016009		87188292	+1	no_errors	ENST00000482504	ensembl	human	known	70_37	missense	SNP	1.000	T
STOX2	56977	genome.wustl.edu	37	4	184930517	184930517	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:184930517G>A	ENST00000308497.4	+	3	1961	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	STOX2_ENST00000438269.1_Missense_Mutation_p.G176R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	176					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCCGCAACCCGGGACCATCAC	0.537																																																	0													91.0	96.0	94.0					4																	184930517		2138	4235	6373	SO:0001583	missense	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.526G>A	4.37:g.184930517G>A	ENSP00000311257:p.Gly176Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G176R	ENST00000308497.4	37	c.526	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106993	0.77096	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.78481	-0.18;-1.18;-1.12	5.25	4.4	0.53042	.	0.108120	0.64402	N	0.000005	T	0.75591	0.3870	M	0.62723	1.935	0.80722	D	1	D	0.54601	0.967	P	0.44921	0.464	T	0.74256	-0.3724	10	0.23891	T	0.37	-20.2284	14.0267	0.64590	0.0725:0.0:0.9275:0.0	.	176	Q9P2F5	STOX2_HUMAN	R	176;176;114	ENSP00000311257:G176R;ENSP00000390127:G176R;ENSP00000425388:G114R	ENSP00000311257:G176R	G	+	1	0	STOX2	185167511	1.000000	0.71417	0.860000	0.33809	0.532000	0.34746	7.769000	0.85360	1.579000	0.49836	0.655000	0.94253	GGG	STOX2	-	NULL		0.537	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184930517	+1	no_errors	ENST00000308497	ensembl	human	known	70_37	missense	SNP	1.000	A
SYCP2	10388	genome.wustl.edu	37	20	58496531	58496531	+	Intron	SNP	A	A	G			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr20:58496531A>G	ENST00000357552.3	-	4	250				SYCP2_ENST00000371001.2_Intron|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTAATGGCACATACTGTAT	0.264																																																	0													24.0	24.0	24.0					20																	58496531		2195	4279	6474	SO:0001627	intron_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.25-23T>C	20.37:g.58496531A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	RNA	SNP	-	NULL	ENST00000357552.3	37	NULL	CCDS13482.1	20																																																																																			SYCP2	-	-		0.264	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	A	NM_014258		58496531	-1	no_errors	ENST00000476314	ensembl	human	putative	70_37	rna	SNP	0.072	G
SYNGR2	9144	genome.wustl.edu	37	17	76167900	76167900	+	Silent	SNP	G	G	A	rs142613283	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:76167900G>A	ENST00000225777.3	+	4	617	c.558G>A	c.(556-558)ccG>ccA	p.P186P	SYNGR2_ENST00000585591.1_Silent_p.P186P|SYNGR2_ENST00000588282.1_Missense_Mutation_p.R216Q|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000590201.1_Silent_p.P130P|SYNGR2_ENST00000592456.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	186					protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			ACCCCACTCCGGACCCCAACA	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17633	0.0		0.0	False		,,,				2504	0.002																0								G		1,4405	2.1+/-5.4	0,1,2202	120.0	105.0	110.0		558	-9.0	0.0	17	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYNGR2	NM_004710.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		186/225	76167900	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9144			AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.558G>A	17.37:g.76167900G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.R216Q	ENST00000225777.3	37	c.647	CCDS11753.1	17																																																																																			SYNGR2	-	NULL		0.627	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR2	HGNC	protein_coding	OTTHUMT00000437009.2	G			76167900	+1	no_errors	ENST00000588282	ensembl	human	putative	70_37	missense	SNP	0.000	A
TOM1	10043	genome.wustl.edu	37	22	35719764	35719764	+	Missense_Mutation	SNP	G	G	A	rs371088274		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr22:35719764G>A	ENST00000449058.2	+	6	630	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	TOM1_ENST00000436462.2_Missense_Mutation_p.V131M|TOM1_ENST00000382034.5_Missense_Mutation_p.V102M|TOM1_ENST00000425375.1_Missense_Mutation_p.V124M|TOM1_ENST00000411850.1_Missense_Mutation_p.V169M|TOM1_ENST00000447733.1_Missense_Mutation_p.V136M	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	169					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCACTAGACCGTGTTCAACTC	0.597																																																	0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	80.0	73.0	76.0		406,370,505,505	4.7	1.0	22		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TOM1	NM_001135729.1,NM_001135730.1,NM_001135732.1,NM_005488.2	21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	136/461,124/448,169/494,169/493	35719764	1,13005	2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.505G>A	22.37:g.35719764G>A	ENSP00000394466:p.Val169Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.V169M	ENST00000449058.2	37	c.505	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432944	0.43224	0.0	1.16E-4	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034;ENST00000443206	T;T;T;T;T;T;T;T	0.34472	1.66;1.71;1.67;1.66;1.99;1.64;1.7;1.36	4.74	4.74	0.60224	.	0.399258	0.25211	N	0.032314	T	0.58119	0.2100	M	0.80616	2.505	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;0.999;0.983;0.997;0.992	D;P;P;P;P	0.62955	0.909;0.839;0.65;0.872;0.66	T	0.63897	-0.6533	10	0.72032	D	0.01	1.2817	12.4532	0.55688	0.0:0.0:0.8323:0.1677	.	124;131;178;169;169	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	M	136;163;169;169;124;178;131;102;136	ENSP00000398876:V136M;ENSP00000393714:V163M;ENSP00000394466:V169M;ENSP00000413697:V169M;ENSP00000394924:V124M;ENSP00000402556:V131M;ENSP00000371465:V102M;ENSP00000389789:V136M	ENSP00000371465:V102M	V	+	1	0	TOM1	34049764	1.000000	0.71417	0.951000	0.38953	0.298000	0.27526	4.376000	0.59556	2.187000	0.69744	0.561000	0.74099	GTG	TOM1	-	pirsf_TOM1		0.597	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	G	NM_005488		35719764	+1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.648	A
TRHDE	29953	genome.wustl.edu	37	12	73012759	73012759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:73012759C>T	ENST00000261180.4	+	13	2371	c.2275C>T	c.(2275-2277)Cga>Tga	p.R759*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCCAGCCGAGCTCTTTA	0.368																																																	0													52.0	56.0	54.0					12																	73012759		2201	4300	6501	SO:0001587	stop_gained	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2275C>T	12.37:g.73012759C>T	ENSP00000261180:p.Arg759*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R759*	ENST00000261180.4	37	c.2275	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.421876	0.97555	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.77	2.85	0.33270	.	0.073688	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.2017	0.73142	0.3681:0.6319:0.0:0.0	.	.	.	.	X	759	.	ENSP00000261180:R759X	R	+	1	2	TRHDE	71299026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.119000	0.41958	0.398000	0.25338	0.655000	0.94253	CGA	TRHDE	-	NULL		0.368	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		73012759	+1	no_errors	ENST00000261180	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRPC5	7224	genome.wustl.edu	37	X	111145031	111145031	+	Intron	SNP	G	G	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chrX:111145031G>T	ENST00000262839.2	-	3	1819				TRPC5OS_ENST00000371970.2_RNA	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGTCCATTTGCTAGAGCTTT	0.383																																																	0																																										SO:0001627	intron_variant	100329135			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.900+10487C>A	X.37:g.111145031G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	RNA	SNP	-	NULL	ENST00000262839.2	37	NULL	CCDS14561.1	X																																																																																			TRPC5OS	-	-		0.383	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5OS	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111145031	+1	no_errors	ENST00000371970	ensembl	human	known	70_37	rna	SNP	0.003	T
TRRAP	8295	genome.wustl.edu	37	7	98529255	98529255	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:98529255G>T	ENST00000359863.4	+	26	4028	c.3819G>T	c.(3817-3819)aaG>aaT	p.K1273N	TRRAP_ENST00000446306.3_Missense_Mutation_p.K1272N|TRRAP_ENST00000355540.3_Missense_Mutation_p.K1273N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1273					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACTGGGAAGAGTGTCACGG	0.468																																																	0													85.0	80.0	81.0					7																	98529255		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3819G>T	7.37:g.98529255G>T	ENSP00000352925:p.Lys1273Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K1273N	ENST00000359863.4	37	c.3819	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.442663|3.442663	0.63067|0.63067	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64991|.	3.55;-0.13|.	6.06|6.06	-0.659|-0.659	0.11424|0.11424	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71307|0.71307	0.3324|0.3324	M|M	0.80028|0.80028	2.48|2.48	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.981;0.99|.	D;P;P|.	0.67382|.	0.951;0.697;0.796|.	T|T	0.70015|0.70015	-0.4988|-0.4988	10|5	0.27082|.	T|.	0.32|.	.|.	11.8082|11.8082	0.52167|0.52167	0.4905:0.0:0.5095:0.0|0.4905:0.0:0.5095:0.0	.|.	1273;987;1273|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|I	1273;1273;1271|988	ENSP00000352925:K1273N;ENSP00000347733:K1273N|.	ENSP00000347733:K1273N|.	K|R	+|+	3|2	2|0	TRRAP|TRRAP	98367191|98367191	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.835000|0.835000	0.47333|0.47333	1.018000|1.018000	0.30002|0.30002	-0.343000|-0.343000	0.08351|0.08351	-0.312000|-0.312000	0.09012|0.09012	AAG|AGA	TRRAP	-	superfamily_ARM-type_fold		0.468	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98529255	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	0.998	T
TXNL1	9352	genome.wustl.edu	37	18	54266502	54266502	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr18:54266502G>A	ENST00000217515.6	-	0	4830				TXNL1_ENST00000585497.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTATAGTGCTGAGCATGTTAA	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	9352			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.*3756C>T	18.37:g.54266502G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000217515.6	37	NULL	CCDS11961.1	18																																																																																			TXNL1	-	-		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	G			54266502	-1	no_errors	ENST00000585497	ensembl	human	known	70_37	rna	SNP	0.000	A
UNC5D	137970	genome.wustl.edu	37	8	35624428	35624428	+	Silent	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:35624428G>A	ENST00000404895.2	+	15	2650	c.2322G>A	c.(2320-2322)ccG>ccA	p.P774P	UNC5D_ENST00000420357.1_Silent_p.P707P|UNC5D_ENST00000449677.1_Silent_p.P350P|UNC5D_ENST00000416672.1_Silent_p.P779P|UNC5D_ENST00000453357.2_Silent_p.P769P|UNC5D_ENST00000287272.2_Silent_p.P705P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	774					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGAAGTCCCGTTCTCCCGCG	0.557																																																	0													86.0	74.0	78.0					8																	35624428		2203	4300	6503	SO:0001819	synonymous_variant	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2322G>A	8.37:g.35624428G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.P774	ENST00000404895.2	37	c.2322	CCDS6093.2	8																																																																																			UNC5D	-	NULL		0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35624428	+1	no_errors	ENST00000404895	ensembl	human	known	70_37	silent	SNP	0.009	A
VRTN	55237	genome.wustl.edu	37	14	74824923	74824923	+	Silent	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:74824923G>A	ENST00000256362.4	+	2	1678	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	479					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGAGTGAGGCGGAAGAGGGGG	0.652																																																	0													35.0	40.0	38.0					14																	74824923		2202	4297	6499	SO:0001819	synonymous_variant	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1437G>A	14.37:g.74824923G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NVC7	Silent	SNP	pfam_Transposase_8	p.A479	ENST00000256362.4	37	c.1437	CCDS9830.1	14																																																																																			VRTN	-	NULL		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824923	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	silent	SNP	0.000	A
CFAP44	55779	genome.wustl.edu	37	3	113120479	113120479	+	Silent	SNP	G	G	A			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr3:113120479G>A	ENST00000295868.2	-	10	1440	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Silent_p.F426F	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTATCATAGAGAAGAGATTCA	0.348																																																	0													120.0	119.0	119.0					3																	113120479		2203	4300	6503	SO:0001819	synonymous_variant	55779																														ENST00000295868.2:c.1278C>T	3.37:g.113120479G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F426	ENST00000295868.2	37	c.1278	CCDS2972.1	3																																																																																			WDR52	-	superfamily_WD40_repeat_dom		0.348	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	G			113120479	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	silent	SNP	1.000	A
WHSC1	7468	genome.wustl.edu	37	4	1980533	1980533	+	Missense_Mutation	SNP	C	C	T	rs561070783		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:1980533C>T	ENST00000382895.3	+	24	4426	c.3995C>T	c.(3994-3996)tCg>tTg	p.S1332L	WHSC1_ENST00000382891.5_Missense_Mutation_p.S1332L|WHSC1_ENST00000508803.1_Missense_Mutation_p.S1332L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1332L|WHSC1_ENST00000382888.3_Missense_Mutation_p.S680L|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1332					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCGGCATCGGTCAGAAGC	0.647			T	IGH@	MM								C|||	1	0.000199681	0.0	0.0	5008	,	,		15431	0.0		0.001	False		,,,				2504	0.0							Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													37.0	37.0	37.0					4																	1980533		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3995C>T	4.37:g.1980533C>T	ENSP00000372351:p.Ser1332Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.S1332L	ENST00000382895.3	37	c.3995	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	7.131	0.579810	0.13686	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.97161	-3.65;-3.65;-3.65;-3.65;-4.27	4.66	3.81	0.43845	.	1.302470	0.05463	N	0.551653	D	0.92459	0.7606	N	0.08118	0	0.38775	D	0.954632	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.81718	-0.0805	10	0.51188	T	0.08	.	10.0371	0.42135	0.0:0.837:0.0:0.163	.	680;1332	A2A2T2;O96028	.;NSD2_HUMAN	L	1332;1332;1332;1332;680	ENSP00000423972:S1332L;ENSP00000372347:S1332L;ENSP00000372348:S1332L;ENSP00000372351:S1332L;ENSP00000372344:S680L	ENSP00000372344:S680L	S	+	2	0	WHSC1	1950331	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	2.220000	0.42908	1.170000	0.42753	0.655000	0.94253	TCG	WHSC1	-	NULL		0.647	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1980533	+1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	0.011	T
WHSC1L1	54904	genome.wustl.edu	37	8	38174709	38174709	+	Intron	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:38174709C>T	ENST00000317025.8	-	10	2373				WHSC1L1_ENST00000316985.3_3'UTR|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGGTGGGCCTCGTTAGACTGC	0.483			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0																																										SO:0001627	intron_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1856-1149G>A	8.37:g.38174709C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	SNP	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			WHSC1L1	-	-		0.483	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38174709	-1	no_errors	ENST00000525081	ensembl	human	known	70_37	rna	SNP	0.943	T
XPO1	7514	genome.wustl.edu	37	2	61711217	61711217	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:61711217A>C	ENST00000401558.2	-	21	3259	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	XPO1_ENST00000404992.2_Missense_Mutation_p.H844Q|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.H844Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	844					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGTTCGTTCTATGTTCAGGAT	0.373			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													89.0	93.0	91.0					2																	61711217		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2532T>G	2.37:g.61711217A>C	ENSP00000384863:p.His844Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H844Q	ENST00000401558.2	37	c.2532	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307941	0.81247	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67345	-0.26;-0.26;-0.26	5.62	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	H	0.94964	3.605	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.77004	0.985;0.989	D	0.85882	0.1423	10	0.62326	D	0.03	-11.8137	9.9684	0.41738	0.2865:0.0:0.7135:0.0	.	491;844	B3KWD0;O14980	.;XPO1_HUMAN	Q	844	ENSP00000384863:H844Q;ENSP00000385942:H844Q;ENSP00000385559:H844Q	ENSP00000384863:H844Q	H	-	3	2	XPO1	61564721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.615000	0.46368	0.856000	0.35383	-0.119000	0.15052	CAT	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold		0.373	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	A	NM_003400		61711217	-1	no_errors	ENST00000401558	ensembl	human	known	70_37	missense	SNP	1.000	C
ZCCHC2	54877	genome.wustl.edu	37	18	60190786	60190787	+	In_Frame_Ins	INS	-	-	CCG	rs563687016	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr18:60190786_60190787insCCG	ENST00000269499.5	+	1	547_548	c.129_130insCCG	c.(130-132)ccg>CCGccg	p.44_44P>PP		NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	44	Pro-rich.					cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						actgccgccccccgccgccgcc	0.871														2653	0.529752	0.615	0.5202	5008	,	,		1383	0.3948		0.6392	False		,,,				2504	0.4479																0																																										SO:0001652	inframe_insertion	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.145_147dupCCG	18.37:g.60190793_60190795dupCCG	ENSP00000269499:p.Pro50dup	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	In_Frame_Ins	INS	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.47in_frame_insP	ENST00000269499.5	37	c.129_130	CCDS45880.1	18																																																																																			ZCCHC2	-	NULL		0.871	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	-	NM_017742		60190787	+1	no_errors	ENST00000269499	ensembl	human	known	70_37	in_frame_ins	INS	0.978:0.996	CCG
ZNF264	9422	genome.wustl.edu	37	19	57724021	57724021	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:57724021C>T	ENST00000263095.6	+	4	1970	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	ZNF264_ENST00000536056.1_Missense_Mutation_p.S519L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGTGGGAAATCGTTTTGCTGG	0.512																																																	0													90.0	91.0	90.0					19																	57724021		2203	4300	6503	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1556C>T	19.37:g.57724021C>T	ENSP00000263095:p.Ser519Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S519L	ENST00000263095.6	37	c.1556	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104496	0.20632	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.50813	0.73;0.73	1.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33847	0.0877	L	0.52823	1.66	0.09310	N	1	P	0.42483	0.781	B	0.31547	0.132	T	0.38779	-0.9645	9	0.87932	D	0	.	4.4194	0.11472	0.2523:0.4999:0.2478:0.0	.	519	O43296	ZN264_HUMAN	L	519	ENSP00000263095:S519L;ENSP00000440376:S519L	ENSP00000263095:S519L	S	+	2	0	ZNF264	62415833	0.000000	0.05858	0.093000	0.20910	0.758000	0.43043	-0.313000	0.08103	1.434000	0.47414	0.491000	0.48974	TCG	ZNF264	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	C			57724021	+1	no_errors	ENST00000263095	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF496	84838	genome.wustl.edu	37	1	247471184	247471184	+	Intron	SNP	C	C	T			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:247471184C>T	ENST00000294753.4	-	8	1471				ZNF496_ENST00000366498.2_Intron|ZNF496_ENST00000462139.1_Intron	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTTACCAAGACGACTCAGAGT	0.453																																																	0																																										SO:0001627	intron_variant	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1006+592G>A	1.37:g.247471184C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBS2	RNA	SNP	-	NULL	ENST00000294753.4	37	NULL	CCDS1631.1	1																																																																																			ZNF496	-	-		0.453	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	C	NM_032752		247471184	-1	no_errors	ENST00000465126	ensembl	human	known	70_37	rna	SNP	0.011	T
