#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTSL1	92949	genome.wustl.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1177-1179)gggfs	p.G393fs	ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.G376fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	393	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584																																						dbGAP											0									,	29,4235		0,29,2103					,	6.2	1.0			48	21,8233		0,21,4106	no	frameshift,frameshift	ADAMTSL1	NM_052866.4,NM_001040272.5	,	0,50,6209	A1A1,A1R,RR		0.2544,0.6801,0.3994	,	,		50,12468				-	-	-	SO:0001589	frameshift_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1184dupG	9.37:g.18680357_18680357dupG	ENSP00000369921:p.Gly393fs		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.I395fs	ENST00000380548.4	37	c.1176_1177	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.584	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	35	0.00	0	-			18680349	18680350	+1	no_errors	ENST00000327883	ensembl	human	known	69_37n	frame_shift_ins	34	12.82	5	INS	1.000:1.000	G
ADCY10	55811	genome.wustl.edu	37	1	167830215	167830215	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:167830215T>G	ENST00000367851.4	-	15	1887	c.1703A>C	c.(1702-1704)gAc>gCc	p.D568A	ADCY10_ENST00000367848.1_Missense_Mutation_p.D476A|ADCY10_ENST00000545172.1_Missense_Mutation_p.D415A	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	568					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACAAGTGTCTAGGCCTAG	0.363																																						dbGAP											0													200.0	189.0	193.0					1																	167830215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1703A>C	1.37:g.167830215T>G	ENSP00000356825:p.Asp568Ala		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.D568A	ENST00000367851.4	37	c.1703	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.682313	0.29872	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.33438	1.41;1.42;1.41	5.56	3.25	0.37280	.	0.378995	0.25517	N	0.030138	T	0.24928	0.0605	M	0.66939	2.045	0.28224	N	0.926393	D;D;D	0.64830	0.98;0.994;0.99	P;P;P	0.55011	0.766;0.766;0.588	T	0.08411	-1.0723	9	0.25751	T	0.34	-12.3607	7.8224	0.29294	0.0:0.1514:0.0:0.8486	.	415;476;568	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	A	415;568;476	ENSP00000441992:D415A;ENSP00000356825:D568A;ENSP00000356822:D476A	ENSP00000356822:D476A	D	-	2	0	ADCY10	166096839	0.952000	0.32445	0.639000	0.29394	0.028000	0.11728	1.719000	0.38011	0.481000	0.27557	-1.098000	0.02139	GAC	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.363	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	135	0.00	0	T	NM_018417		167830215	167830215	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	missense	261	17.41	55	SNP	0.582	G
ALDH2	217	genome.wustl.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G	rs554937672		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-861)ctggggfs	p.LG286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.LG239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma																																	dbGAP		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	2	Insertion - Frameshift(2)	ovary(2)							,	7,4257		0,7,2125					,	5.4	1.0			54	5,8249		0,5,4122	no	frameshift,frameshift	ALDH2	NM_001204889.1,NM_000690.3	,	0,12,6247	A1A1,A1R,RR		0.0606,0.1642,0.0959	,	,		12,12506				-	-	-	SO:0001589	frameshift_variant	0			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.864dupG	12.37:g.112229933_112229933dupG	ENSP00000261733:p.Leu286fs		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K289fs	ENST00000261733.2	37	c.857_858	CCDS9155.1	12																																																																																			ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000111275		0.574	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1	10	0.00	0	-	NM_000690		112229926	112229927	+1	no_errors	ENST00000261733	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	1.000:0.991	G
ANGPTL6	83854	genome.wustl.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R355fs	ENST00000253109.4	37	c.1062_1061	CCDS12224.1	19																																																																																			ANGPTL6	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000130812		0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL6	HGNC	protein_coding	OTTHUMT00000451142.1	17	0.00	0	-	NM_031917		10204185	10204186	-1	no_errors	ENST00000253109	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.996:1.000	C
ANKLE1	126549	genome.wustl.edu	37	19	17397270	17397271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:17397270_17397271insG	ENST00000394458.3	+	9	2033_2034	c.1757_1758insG	c.(1756-1761)ttggggfs	p.LG586fs	ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.LG582fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.LG549fs|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.W514fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	586										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CGCCGGCGCTTGGGGGTGCACC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1762dupG	19.37:g.17397275_17397275dupG	ENSP00000377971:p.Leu586fs		A8VU82|Q8N8J8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM	p.V588fs	ENST00000394458.3	37	c.1757_1758	CCDS12354.2	19																																																																																			ANKLE1	-	NULL	ENSG00000160117		0.644	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	14	0.00	0	-	NM_152363		17397270	17397271	+1	no_errors	ENST00000404261	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.997:0.997	G
AP1S1	1174	genome.wustl.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.D122fs	ENST00000337619.5	37	c.356_357	CCDS47669.1	7																																																																																			AP1S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000106367		0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S1	HGNC	protein_coding	OTTHUMT00000347439.1	34	0.00	0	-	NM_001283		100802404	100802405	+1	no_errors	ENST00000337619	ensembl	human	known	69_37n	frame_shift_ins	81	15.62	15	INS	1.000:1.000	G
ARFGEF1	10565	genome.wustl.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.P1553fs	ENST00000262215.3	37	c.4656_4655	CCDS6199.1	8																																																																																			ARFGEF1	-	NULL	ENSG00000066777		0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	40	0.00	0	-	NM_006421		68128855	68128856	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	frame_shift_ins	58	12.12	8	INS	0.000:0.000	G
ARMC9	80210	genome.wustl.edu	37	2	232209771	232209772	+	Frame_Shift_Ins	INS	-	-	C	rs202164814		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:232209771_232209772insC	ENST00000349938.4	+	21	2157_2158	c.1963_1964insC	c.(1963-1965)accfs	p.T655fs	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	655						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAGGCCCGTCACCCCCGGCGGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1968dupC	2.37:g.232209776_232209776dupC	ENSP00000258417:p.Thr655fs		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Frame_Shift_Ins	INS	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.G657fs	ENST00000349938.4	37	c.1963_1964	CCDS2484.1	2																																																																																			ARMC9	-	NULL	ENSG00000135931		0.535	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	16	0.00	0	-	NM_025139		232209771	232209772	+1	no_errors	ENST00000349938	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	1.000:1.000	C
ATG4A	115201	genome.wustl.edu	37	X	107374543	107374543	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:107374543C>G	ENST00000372232.3	+	4	406	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	ATG4A_ENST00000345734.3_Missense_Mutation_p.Q83E|ATG4A_ENST00000372254.3_Missense_Mutation_p.Q59E|ATG4A_ENST00000545696.1_Missense_Mutation_p.Q6E	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	83					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ACGCTGTGGACAGATGATGCT	0.463																																						dbGAP											0													174.0	156.0	162.0					X																	107374543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.247C>G	X.37:g.107374543C>G	ENSP00000361306:p.Gln83Glu		A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	pfam_Peptidase_C54	p.Q83E	ENST00000372232.3	37	c.247	CCDS14538.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.954304|4.954304	0.92726|0.92726	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000345734;ENST00000372254;ENST00000457035;ENST00000545696	.|T;D;D;T	.|0.93133	.|-0.64;-3.17;-1.71;-0.99	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.063683	.|0.64402	.|D	.|0.000004	D|D	0.98245|0.98245	0.9419|0.9419	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99453|0.99453	1.0941|1.0941	5|10	.|0.87932	.|D	.|0	-6.3269|-6.3269	19.2026|19.2026	0.93717|0.93717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|83;83	.|Q8WYN0-2;Q8WYN0	.|.;ATG4A_HUMAN	E|E	55|83;83;59;6;6	.|ENSP00000361306:Q83E;ENSP00000298131:Q83E;ENSP00000361328:Q59E;ENSP00000438936:Q6E	.|ENSP00000341833:Q83E	D|Q	+|+	3|1	2|0	ATG4A|ATG4A	107261199|107261199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.274000|7.274000	0.78538|0.78538	2.485000|2.485000	0.83878|0.83878	0.600000|0.600000	0.82982|0.82982	GAC|CAG	ATG4A	-	pfam_Peptidase_C54	ENSG00000101844		0.463	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4A	HGNC	protein_coding	OTTHUMT00000057860.1	99	0.00	0	C	NM_052936		107374543	107374543	+1	no_errors	ENST00000372232	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	G
B4GALNT1	2583	genome.wustl.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)								32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				-	-	-	SO:0001589	frameshift_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs		B4DE26|Q8N636	Frame_Shift_Ins	INS	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.L89fs	ENST00000341156.4	37	c.264_263	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	41	0.00	0	-	NM_001478		58025102	58025103	-1	no_errors	ENST00000341156	ensembl	human	known	69_37n	frame_shift_ins	30	23.08	9	INS	0.004:0.099	C
BAX	581	genome.wustl.edu	37	19	49458970	49458971	+	Frame_Shift_Ins	INS	-	-	G	rs141306106|rs398122842|rs398122841|rs398122840		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:49458970_49458971insG	ENST00000345358.7	+	3	165_166	c.113_114insG	c.(112-117)atggggfs	p.MG38fs	BAX_ENST00000415969.2_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000391871.3_Frame_Shift_Ins_p.W21fs|BAX_ENST00000539787.1_Frame_Shift_Ins_p.MG38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)							,,,	38,4226		0,38,2094					,,,	4.0	0.3			58	42,8212		0,42,4085	no	frameshift,intron,frameshift,frameshift	BAX	NM_138764.4,NM_138763.3,NM_138761.3,NM_004324.3	,,,	0,80,6179	A1A1,A1R,RR		0.5088,0.8912,0.6391	,,,	,,,		80,12438				-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.121dupG	19.37:g.49458978_49458978dupG	ENSP00000263262:p.Met38fs		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.113_114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.594	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	39	0.00	0	-	NM_138763		49458970	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_ins	23	17.86	5	INS	0.585:0.588	G
BBS10	79738	genome.wustl.edu	37	12	76740486	76740486	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:76740486C>G	ENST00000393262.3	-	2	1362	c.1279G>C	c.(1279-1281)Gac>Cac	p.D427H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	427					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGATCAAGGTCTTTAAATAAT	0.373									Bardet-Biedl syndrome																													dbGAP											0													89.0	90.0	89.0					12																	76740486		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1279G>C	12.37:g.76740486C>G	ENSP00000376946:p.Asp427His		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.D427H	ENST00000393262.3	37	c.1279	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	C	4.969	0.180064	0.09443	.	.	ENSG00000179941	ENST00000393262	T	0.80824	-1.42	5.1	4.2	0.49525	.	0.655581	0.14109	N	0.340817	T	0.71970	0.3403	L	0.36672	1.1	0.23298	N	0.997956	B	0.18610	0.029	B	0.22880	0.042	T	0.62964	-0.6742	10	0.49607	T	0.09	-3.941	8.9918	0.36028	0.0:0.6403:0.2829:0.0768	.	427	Q8TAM1	BBS10_HUMAN	H	427	ENSP00000376946:D427H	ENSP00000376946:D427H	D	-	1	0	BBS10	75264617	0.313000	0.24554	0.950000	0.38849	0.458000	0.32498	0.079000	0.14782	1.514000	0.48869	0.650000	0.86243	GAC	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000179941		0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	29	0.00	0	C	NM_024685		76740486	76740486	-1	no_errors	ENST00000393262	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.491	G
BCHE	590	genome.wustl.edu	37	3	165548505	165548505	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:165548505C>A	ENST00000264381.3	-	2	483	c.317G>T	c.(316-318)gGa>gTa	p.G106V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	106					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATCTCTGATCCATGGAAGCC	0.398																																						dbGAP											0													94.0	99.0	97.0					3																	165548505		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.317G>T	3.37:g.165548505C>A	ENSP00000264381:p.Gly106Val		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.G106V	ENST00000264381.3	37	c.317	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274317	0.59649	.	.	ENSG00000114200	ENST00000264381	D	0.95554	-3.74	5.84	5.84	0.93424	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98548	1.0635	10	0.87932	D	0	.	19.1188	0.93353	0.0:1.0:0.0:0.0	.	106	P06276	CHLE_HUMAN	V	106	ENSP00000264381:G106V	ENSP00000264381:G106V	G	-	2	0	BCHE	167031199	1.000000	0.71417	0.908000	0.35775	0.290000	0.27261	5.965000	0.70387	2.751000	0.94390	0.655000	0.94253	GGA	BCHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000114200		0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	65	0.00	0	C			165548505	165548505	-1	no_errors	ENST00000264381	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.999	A
BCL3	602	genome.wustl.edu	37	19	45262842	45262843	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:45262842_45262843insC	ENST00000164227.5	+	9	1579_1580	c.1335_1336insC	c.(1336-1338)cccfs	p.P446fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	446	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GCCGGCCGGTGCCCCCCTCCCC	0.673			T	IGH@	CLL																																	dbGAP		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1341dupC	19.37:g.45262848_45262848dupC	ENSP00000164227:p.Pro446fs			Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S447fs	ENST00000164227.5	37	c.1335_1336	CCDS12642.2	19																																																																																			BCL3	-	NULL	ENSG00000069399		0.673	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	39	0.00	0	-	NM_005178		45262842	45262843	+1	no_errors	ENST00000164227	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.755:0.967	C
BCL9L	283149	genome.wustl.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																						dbGAP											0										27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				-	-	-	SO:0001589	frameshift_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P1128fs	ENST00000334801.3	37	c.3381_3380	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	45	0.00	0	-	NM_182557		118770651	118770652	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	frame_shift_ins	35	12.50	5	INS	0.988:0.996	G
BMP1	649	genome.wustl.edu	37	8	22054259	22054260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:22054259_22054260insC	ENST00000306385.5	+	14	2502_2503	c.1832_1833insC	c.(1831-1836)taccccfs	p.YP611fs	BMP1_ENST00000397816.3_Frame_Shift_Ins_p.YP611fs|BMP1_ENST00000306349.8_Frame_Shift_Ins_p.YP611fs|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	611	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1839dupC	8.37:g.22054266_22054266dupC	ENSP00000305714:p.Tyr611fs		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Ins	INS	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.N614fs	ENST00000306385.5	37	c.1832_1833	CCDS6026.1	8																																																																																			BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000168487		0.604	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	33	0.00	0	-	NM_006132		22054259	22054260	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	1.000:1.000	C
BRCA1	672	genome.wustl.edu	37	17	41256165	41256165	+	Nonsense_Mutation	SNP	G	G	A	rs80357816|rs80357372		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:41256165G>A	ENST00000357654.3	-	6	533	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	BRCA1_ENST00000354071.3_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q92*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.Q139*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q139*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	139					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTTCACTCTGTAGAAGTCTT	0.323			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													215.0	218.0	217.0					17																	41256165		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.415C>T	17.37:g.41256165G>A	ENSP00000350283:p.Gln139*		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING	p.Q139*	ENST00000357654.3	37	c.415	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346788	0.82022	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777	.	.	.	5.32	1.97	0.26223	.	0.655518	0.13641	N	0.372979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.2251	0.31564	0.0:0.3997:0.4436:0.1567	.	.	.	.	X	139;139;139;139;139;139;139;92;139;92;139;139;55;92;55;139;113;139;139	.	ENSP00000246907:Q139X	Q	-	1	0	BRCA1	38509691	0.481000	0.25941	0.460000	0.27093	0.936000	0.57629	1.741000	0.38238	0.744000	0.32741	0.655000	0.94253	CAG	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.323	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	150	0.00	0	G	NM_007294		41256165	41256165	-1	no_errors	ENST00000471181	ensembl	human	known	69_37n	nonsense	171	24.34	55	SNP	0.003	A
BRSK2	9024	genome.wustl.edu	37	11	1477639	1477640	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:1477639_1477640insG	ENST00000528841.1	+	17	2114_2115	c.1730_1731insG	c.(1729-1734)acggggfs	p.TG577fs	BRSK2_ENST00000531197.1_Frame_Shift_Ins_p.TG577fs|BRSK2_ENST00000528710.1_Frame_Shift_Ins_p.TG517fs|BRSK2_ENST00000544817.1_Frame_Shift_Ins_p.TG272fs|BRSK2_ENST00000526678.1_Frame_Shift_Ins_p.TG599fs|BRSK2_ENST00000308219.9_Frame_Shift_Ins_p.TG577fs|BRSK2_ENST00000308230.5_Frame_Shift_Ins_p.TG599fs|BRSK2_ENST00000382179.1_Frame_Shift_Ins_p.TG623fs			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	577					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TACAAGGCCACGGGGGGGCCAG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1737dupG	11.37:g.1477646_1477646dupG	ENSP00000432000:p.Thr577fs		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Frame_Shift_Ins	INS	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.P626fs	ENST00000528841.1	37	c.1868_1869	CCDS58107.1	11																																																																																			BRSK2	-	NULL	ENSG00000174672		0.619	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	28	0.00	0	-	NM_003957		1477639	1477640	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.998:0.882	G
C15orf39	56905	genome.wustl.edu	37	15	75499803	75499804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:75499803_75499804insC	ENST00000360639.2	+	2	1734_1735	c.1414_1415insC	c.(1414-1416)accfs	p.T472fs	C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.T472fs|C15orf39_ENST00000567617.1_Frame_Shift_Ins_p.T472fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	472						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGTTCCCTGTACCCCCCCAGCA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1421dupC	15.37:g.75499810_75499810dupC	ENSP00000353854:p.Thr472fs		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Ins	INS	NULL	p.A475fs	ENST00000360639.2	37	c.1414_1415	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.634	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	23	0.00	0	-	NM_015492		75499803	75499804	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.756:0.848	C
C17orf47	284083	genome.wustl.edu	37	17	56620396	56620396	+	Silent	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:56620396G>A	ENST00000321691.3	-	1	1333	c.1152C>T	c.(1150-1152)taC>taT	p.Y384Y	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	384										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGGGACATGTAAGTAATTT	0.512																																						dbGAP											0													151.0	136.0	141.0					17																	56620396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1152C>T	17.37:g.56620396G>A			Q8N821	Silent	SNP	NULL	p.Y384	ENST00000321691.3	37	c.1152	CCDS32691.1	17																																																																																			C17orf47	-	NULL	ENSG00000181013		0.512	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	153	0.00	0	G	NM_001038704		56620396	56620396	-1	no_errors	ENST00000321691	ensembl	human	known	69_37n	silent	179	14.29	30	SNP	0.002	A
C21orf58	54058	genome.wustl.edu	37	21	47734733	47734734	+	Frame_Shift_Ins	INS	-	-	AT	rs144154606		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr21:47734733_47734734insAT	ENST00000291691.7	-	5	1641_1642	c.505_506insAT	c.(505-507)gccfs	p.A169fs	C21orf58_ENST00000397679.1_Frame_Shift_Ins_p.A63fs|C21orf58_ENST00000397683.1_Frame_Shift_Ins_p.A63fs|C21orf58_ENST00000397680.1_Frame_Shift_Ins_p.A63fs|C21orf58_ENST00000397682.3_Frame_Shift_Ins_p.A63fs	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	169										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TGACCCGAGGGCTCCTCTGCTT	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.505_506insAT	21.37:g.47734733_47734734insAT	ENSP00000291691:p.Ala169fs		B3KPI1	Frame_Shift_Ins	INS	NULL	p.A169fs	ENST00000291691.7	37	c.506_505	CCDS13735.1	21																																																																																			C21orf58	-	NULL	ENSG00000160298		0.703	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1	14	0.00	0	-	NM_058180		47734733	47734734	-1	no_errors	ENST00000291691	ensembl	human	known	69_37n	frame_shift_ins	3	62.50	5	INS	0.003:0.000	AT
M1AP	130951	genome.wustl.edu	37	2	74802647	74802647	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:74802647C>T	ENST00000290536.5	-	7	1108	c.992G>A	c.(991-993)aGa>aAa	p.R331K	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.R49K|M1AP_ENST00000536235.1_Missense_Mutation_p.R331K|M1AP_ENST00000409585.1_Missense_Mutation_p.R331K	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	331					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCTTGTAGGTCTGAGGATGAA	0.483																																						dbGAP											0													131.0	121.0	125.0					2																	74802647		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.992G>A	2.37:g.74802647C>T	ENSP00000290536:p.Arg331Lys		B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	NULL	p.R331K	ENST00000290536.5	37	c.992	CCDS33229.1	2	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374271	0.61735	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.96	3.15	0.36227	.	0.327598	0.31601	N	0.007368	T	0.58708	0.2141	M	0.67953	2.075	0.28038	N	0.933878	D;B;P;D;D	0.71674	0.998;0.015;0.487;0.998;0.996	D;B;B;D;D	0.77557	0.99;0.016;0.122;0.99;0.987	T	0.51060	-0.8753	10	0.19147	T	0.46	-9.3361	7.308	0.26459	0.0:0.801:0.0:0.199	.	331;49;331;331;87	E9PGG8;Q8TC57-3;Q8TC57-2;Q8TC57;B3KX03	.;.;.;CB065_HUMAN;.	K	331;331;331;49	ENSP00000290536:R331K;ENSP00000386793:R331K;ENSP00000445662:R331K;ENSP00000351213:R49K	ENSP00000290536:R331K	R	-	2	0	C2orf65	74656155	0.893000	0.30496	1.000000	0.80357	0.998000	0.95712	0.721000	0.25911	0.656000	0.30886	0.655000	0.94253	AGA	C2orf65	-	NULL	ENSG00000159374		0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	C2orf65	HGNC	protein_coding	OTTHUMT00000328569.1	57	0.00	0	C	NM_138804		74802647	74802647	-1	no_errors	ENST00000290536	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	T
C3	718	genome.wustl.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		A7E236	Frame_Shift_Ins	INS	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.K890fs	ENST00000245907.6	37	c.2671_2670	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	48	0.00	0	-	NM_000064		6697480	6697481	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	frame_shift_ins	41	12.77	6	INS	0.022:0.014	G
SSUH2	51066	genome.wustl.edu	37	3	8672537	8672537	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:8672537T>G	ENST00000317371.4	-	13	1638	c.413A>C	c.(412-414)cAg>cCg	p.Q138P	SSUH2_ENST00000415132.1_Missense_Mutation_p.Q138P|SSUH2_ENST00000544814.1_Missense_Mutation_p.Q160P|SSUH2_ENST00000341795.3_Missense_Mutation_p.Q138P			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	138						cytoplasm (GO:0005737)											GGTGTCTTCCTGAAACATCGG	0.537																																						dbGAP											0													127.0	102.0	110.0					3																	8672537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.413A>C	3.37:g.8672537T>G	ENSP00000324551:p.Gln138Pro		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.Q160P	ENST00000317371.4	37	c.479	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971483	0.74246	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.48522	0.87;0.87;0.87;0.88;0.81	5.72	5.72	0.89469	.	0.358981	0.30168	N	0.010243	T	0.57460	0.2055	M	0.64567	1.98	0.37215	D	0.904995	D;D	0.59767	0.986;0.974	P;P	0.54174	0.744;0.564	T	0.66756	-0.5843	10	0.59425	D	0.04	-30.2914	12.3907	0.55356	0.0:0.0:0.0:1.0	.	160;138	F5H2S5;Q9Y2M2	.;CC032_HUMAN	P	138;138;138;160;160	ENSP00000339150:Q138P;ENSP00000324551:Q138P;ENSP00000410757:Q138P;ENSP00000439378:Q160P;ENSP00000401289:Q160P	ENSP00000324551:Q138P	Q	-	2	0	C3orf32	8647537	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.197000	0.51028	2.179000	0.69175	0.482000	0.46254	CAG	C3orf32	-	NULL	ENSG00000125046		0.537	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	C3orf32	HGNC	protein_coding	OTTHUMT00000337900.1	64	0.00	0	T	NM_015931		8672537	8672537	-1	no_errors	ENST00000544814	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	G
C6orf222	389384	genome.wustl.edu	37	6	36291139	36291139	+	Silent	SNP	G	G	T	rs144774535		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr6:36291139G>T	ENST00000437635.2	-	8	1579	c.1402C>A	c.(1402-1404)Cga>Aga	p.R468R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	468										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCTTGGGTCGTCGGGCCTCT	0.607																																						dbGAP											0													97.0	108.0	104.0					6																	36291139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1402C>A	6.37:g.36291139G>T			B2RTY8	Silent	SNP	NULL	p.R468	ENST00000437635.2	37	c.1402	CCDS34439.1	6																																																																																			C6orf222	-	NULL	ENSG00000189325		0.607	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	46	0.00	0	G	NM_001010903		36291139	36291139	-1	no_errors	ENST00000437635	ensembl	human	known	69_37n	silent	58	25.64	20	SNP	0.092	T
CACUL1	143384	genome.wustl.edu	37	10	120514109	120514110	+	Frame_Shift_Ins	INS	-	-	C	rs199927390		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:120514109_120514110insC	ENST00000369151.3	-	1	648_649	c.165_166insG	c.(163-168)gggcagfs	p.Q56fs	CACUL1_ENST00000340214.4_Frame_Shift_Ins_p.Q56fs	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	56	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.Q56fs*30(1)									GCCAGCAGCTGCCCCCCCGGAG	0.733																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								20,3416		1,18,1699						3.9	1.0			11	18,7588		0,18,3785	no	frameshift	C10orf46	NM_153810.4		1,36,5484	A1A1,A1R,RR		0.2367,0.5821,0.3441				38,11004				-	-	-	SO:0001589	frameshift_variant	0			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.166dupG	10.37:g.120514116_120514116dupC	ENSP00000358147:p.Gln56fs		Q5XPL7|Q8IY11|Q8N7S4	Frame_Shift_Ins	INS	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.Q55fs	ENST00000369151.3	37	c.166_165	CCDS41570.1	10																																																																																			CACUL1	-	NULL	ENSG00000151893		0.733	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	11	0.00	0	-	NM_153810		120514109	120514110	-1	no_errors	ENST00000369151	ensembl	human	known	69_37n	frame_shift_ins	7	30.00	3	INS	0.987:0.711	C
CCDC153	283152	genome.wustl.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						dbGAP											0										6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				-	-	-	SO:0001589	frameshift_variant	0				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs			Frame_Shift_Ins	INS	superfamily_t-SNARE	p.G201fs	ENST00000503566.2	37	c.600_599	CCDS44753.1	11																																																																																			CCDC153	-	NULL	ENSG00000248712		0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	37	0.00	0	-	NM_001033658		119061042	119061043	-1	no_errors	ENST00000415318	ensembl	human	known	69_37n	frame_shift_ins	48	15.79	9	INS	1.000:1.000	G
CEACAM4	1089	genome.wustl.edu	37	19	42133319	42133320	+	Frame_Shift_Ins	INS	-	-	G	rs550011355|rs144781407|rs565039645	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:42133319_42133320insG	ENST00000221954.2	-	1	122_123	c.12_13insC	c.(10-15)ccctcafs	p.S5fs	CEACAM4_ENST00000600925.1_Frame_Shift_Ins_p.S5fs	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	5						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGAGCGGCTGAGGGGGGGCCCA	0.658																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)								4,4260		0,4,2128						2.3	0.0			27	9,8245		0,9,4118	no	frameshift	CEACAM4	NM_001817.2		0,13,6246	A1A1,A1R,RR		0.109,0.0938,0.1039				13,12505				-	-	-	SO:0001589	frameshift_variant	0			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.13dupC	19.37:g.42133326_42133326dupG	ENSP00000221954:p.Ser5fs		Q03715|Q7LDZ7	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfscan_Ig-like	p.S4fs	ENST00000221954.2	37	c.13_12	CCDS33033.1	19																																																																																			CEACAM4	-	NULL	ENSG00000105352		0.658	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM4	HGNC	protein_coding	OTTHUMT00000321148.1	30	0.00	0	-	NM_001817		42133319	42133320	-1	no_errors	ENST00000221954	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.021:0.019	G
CNOT3	4849	genome.wustl.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs		Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.P244fs	ENST00000406403.1	37	c.724_725	CCDS12880.1	19																																																																																			CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	47	0.00	0	-	NM_014516		54649666	54649667	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	frame_shift_ins	139	13.12	21	INS	1.000:1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	125671838	125671838	+	Silent	SNP	C	C	T	rs201132721		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:125671838C>T	ENST00000431078.1	+	24	4258	c.3894C>T	c.(3892-3894)agC>agT	p.S1298S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1298					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACACAGTGAGCGAGTGTAAAC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20340	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													109.0	110.0	109.0					2																	125671838		1879	4114	5993	-	-	-	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3894C>T	2.37:g.125671838C>T			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1298	ENST00000431078.1	37	c.3894	CCDS46401.1	2																																																																																			CNTNAP5	-	NULL	ENSG00000155052		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	72	0.00	0	C			125671838	125671838	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	silent	109	16.15	21	SNP	1.000	T
COL16A1	1307	genome.wustl.edu	37	1	32133775	32133776	+	Frame_Shift_Ins	INS	-	-	G	rs371196754	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:32133775_32133776insG	ENST00000373672.3	-	51	3809_3810	c.3293_3294insC	c.(3292-3294)ccafs	p.P1098fs	COL16A1_ENST00000271069.6_Frame_Shift_Ins_p.P1098fs	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1098	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGGCAGTCCTGGGGGGCCCGT	0.629																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3294dupC	1.37:g.32133781_32133781dupG	ENSP00000362776:p.Pro1098fs		Q16593|Q59F89|Q71RG9	Frame_Shift_Ins	INS	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G1099fs	ENST00000373672.3	37	c.3294_3293	CCDS41297.1	1																																																																																			COL16A1	-	pfam_Collagen	ENSG00000084636		0.629	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	28	0.00	0	-	NM_001856		32133775	32133776	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.539:0.989	G
COL8A1	1295	genome.wustl.edu	37	3	99514754	99514755	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:99514754_99514755insG	ENST00000261037.3	+	5	2389_2390	c.2009_2010insG	c.(2008-2013)aaggggfs	p.KG670fs	COL8A1_ENST00000273342.4_Frame_Shift_Ins_p.KG670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	670	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GTTCACTGCAAGGGGGGCAACG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2015dupG	3.37:g.99514760_99514760dupG	ENSP00000261037:p.Lys670fs		D3DN42|Q53XI6|Q96D07	Frame_Shift_Ins	INS	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.N673fs	ENST00000261037.3	37	c.2009_2010	CCDS2934.1	3																																																																																			COL8A1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000144810		0.525	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	27	0.00	0	-	NM_001850		99514754	99514755	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	1.000:1.000	G
COL9A2	1298	genome.wustl.edu	37	1	40770036	40770037	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:40770036_40770037insG	ENST00000372748.3	-	24	1338_1339	c.1242_1243insC	c.(1240-1245)cccggafs	p.G415fs	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	415	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCTGGAATTCCGGGGGGGCCCT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1243dupC	1.37:g.40770043_40770043dupG	ENSP00000361834:p.Gly415fs		B2RMP9	Frame_Shift_Ins	INS	pfam_Collagen	p.G414fs	ENST00000372748.3	37	c.1243_1242	CCDS450.1	1																																																																																			COL9A2	-	pfam_Collagen	ENSG00000049089		0.604	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	34	0.00	0	-	NM_001852		40770036	40770037	-1	no_errors	ENST00000372748	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	1.000:0.001	G
COLQ	8292	genome.wustl.edu	37	3	15518687	15518688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:15518687_15518688insG	ENST00000383788.5	-	6	535_536	c.410_411insC	c.(409-411)ccafs	p.P137fs	COLQ_ENST00000435459.2_Frame_Shift_Ins_p.P127fs|COLQ_ENST00000383786.5_Frame_Shift_Ins_p.P103fs|COLQ_ENST00000383787.2_Frame_Shift_Ins_p.P128fs|COLQ_ENST00000383781.4_Frame_Shift_Ins_p.P127fs|COLQ_ENST00000383785.2_Frame_Shift_Ins_p.P137fs|COLQ_ENST00000603808.1_Frame_Shift_Ins_p.P137fs	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	137	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CAGGAACACCTGGGGGGCCAGG	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.411dupC	3.37:g.15518693_15518693dupG	ENSP00000373298:p.Pro137fs		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Frame_Shift_Ins	INS	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.G138fs	ENST00000383788.5	37	c.411_410	CCDS33709.1	3																																																																																			COLQ	-	pfam_Collagen	ENSG00000206561		0.535	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	33	0.00	0	-	NM_005677		15518687	15518688	-1	no_errors	ENST00000383788	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	0.973:1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16950063	16950063	+	lincRNA	SNP	C	C	A	rs9329438	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:16950063C>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGATGAACAGCAGTTACTGTT	0.552																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950063C>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.552	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	9	0.00	0	C	NR_026752.1		16950063	16950063	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	2	66.67	4	SNP	0.000	A
DAAM1	23002	genome.wustl.edu	37	14	59730208	59730208	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:59730208A>C	ENST00000395125.1	+	1	36	c.13A>C	c.(13-15)Aag>Cag	p.K5Q	DAAM1_ENST00000556135.1_Missense_Mutation_p.K5Q|DAAM1_ENST00000360909.3_Missense_Mutation_p.K5Q|DAAM1_ENST00000351081.1_Missense_Mutation_p.K5Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	5					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGCCCCAAGAAAGAGAGGTGG	0.408																																						dbGAP											0													120.0	116.0	117.0					14																	59730208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.13A>C	14.37:g.59730208A>C	ENSP00000378557:p.Lys5Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.K5Q	ENST00000395125.1	37	c.13	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917642	0.73098	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	T;T;T	0.80566	-1.39;-1.38;-1.38	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.88573	0.6473	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.989;0.981;1.0	D;D;D	0.85130	0.978;0.95;0.997	D	0.89023	0.3436	10	0.54805	T	0.06	.	15.9289	0.79644	1.0:0.0:0.0:0.0	.	5;5;5	Q9Y4D1-2;Q9Y4D1;A8K6X5	.;DAAM1_HUMAN;.	Q	5	ENSP00000354162:K5Q;ENSP00000247170:K5Q;ENSP00000378557:K5Q	ENSP00000247170:K5Q	K	+	1	0	DAAM1	58799961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.737000	0.91562	2.156000	0.67533	0.528000	0.53228	AAG	DAAM1	-	NULL	ENSG00000100592		0.408	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	51	0.00	0	A	NM_014992		59730208	59730208	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	119	15.60	22	SNP	1.000	C
DFFB	1677	genome.wustl.edu	37	1	3775374	3775375	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:3775374_3775375insT	ENST00000378209.3	+	2	530_531	c.207_208insT	c.(208-210)gtgfs	p.V70fs	DFFB_ENST00000338895.3_Frame_Shift_Ins_p.V70fs|DFFB_ENST00000378212.2_Frame_Shift_Ins_p.V70fs|CEP104_ENST00000378230.3_5'Flank|CEP104_ENST00000378223.3_5'Flank|DFFB_ENST00000341385.3_Frame_Shift_Ins_p.V70fs	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	70	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACGCCGAGCTGGTGCTGCTCAC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	Exception_encountered	1.37:g.3775374_3775375insT	ENSP00000367454:p.Val70fs		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	pfam_Apoptosis_DFF40,pfam_CAD,smart_CAD,pfscan_CAD	p.V69fs	ENST00000378209.3	37	c.207_208	CCDS52.1	1																																																																																			DFFB	-	pfam_CAD,smart_CAD,pfscan_CAD	ENSG00000169598		0.653	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	26	0.00	0	-	NM_001282669		3775374	3775375	+1	no_errors	ENST00000378209	ensembl	human	known	69_37n	frame_shift_ins	24	44.19	19	INS	0.017:0.019	T
DMXL2	23312	genome.wustl.edu	37	15	51791403	51791403	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:51791403G>T	ENST00000251076.5	-	18	4305	c.4018C>A	c.(4018-4020)Ctt>Att	p.L1340I	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L1340I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1340						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAGGGGAAAGTACATGTGCA	0.393																																						dbGAP											0													79.0	75.0	77.0					15																	51791403		2195	4293	6488	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4018C>A	15.37:g.51791403G>T	ENSP00000251076:p.Leu1340Ile		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1340I	ENST00000251076.5	37	c.4018	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871454	0.33069	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.22743	1.94;1.94	5.66	5.66	0.87406	.	0.060301	0.64402	D	0.000003	T	0.24353	0.0590	M	0.65975	2.015	0.80722	D	1	P;P	0.38922	0.644;0.651	B;B	0.35655	0.207;0.163	T	0.02202	-1.1196	10	0.27785	T	0.31	.	15.245	0.73499	0.0:0.14:0.86:0.0	.	1340;1340	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	I	1340	ENSP00000251076:L1340I;ENSP00000441858:L1340I	ENSP00000251076:L1340I	L	-	1	0	DMXL2	49578695	1.000000	0.71417	0.897000	0.35233	0.994000	0.84299	3.732000	0.55021	2.669000	0.90835	0.591000	0.81541	CTT	DMXL2	-	NULL	ENSG00000104093		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	29	0.00	0	G	NM_015263		51791403	51791403	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.985	T
DPH2	1802	genome.wustl.edu	37	1	44435938	44435938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:44435938G>T	ENST00000255108.3	+	1	263	c.91G>T	c.(91-93)Gga>Tga	p.G31*	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Nonsense_Mutation_p.G31*|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGACCTGGACGGAGTGTACGA	0.632																																						dbGAP											0													75.0	80.0	78.0					1																	44435938		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.91G>T	1.37:g.44435938G>T	ENSP00000255108:p.Gly31*		A8MVC9|B2RDE3|B4DNI8|O60623	Nonsense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.G31*	ENST00000255108.3	37	c.91	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985099	0.35036	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	4.26	0.50523	.	0.330688	0.30302	N	0.009935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.8332	12.7961	0.57560	0.0:0.5808:0.4192:0.0	.	.	.	.	X	31	.	ENSP00000255108:G31X	G	+	1	0	DPH2	44208525	0.972000	0.33761	0.988000	0.46212	0.354000	0.29330	1.511000	0.35801	1.358000	0.45922	-0.364000	0.07487	GGA	DPH2	-	tigrfam_DHP2_eu	ENSG00000132768		0.632	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	42	0.00	0	G	NM_001384		44435938	44435938	+1	no_errors	ENST00000255108	ensembl	human	known	69_37n	nonsense	42	14.29	7	SNP	0.779	T
DNM3	26052	genome.wustl.edu	37	1	172356293	172356293	+	Silent	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:172356293C>T	ENST00000355305.5	+	19	2254	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	DNM3_ENST00000358155.4_Silent_p.S693S|DNM3_ENST00000367731.1_Silent_p.S689S			Q9UQ16	DYN3_HUMAN	dynamin 3	699	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCATAAATTCCGAGCTCCTAG	0.453																																						dbGAP											0													86.0	85.0	85.0					1																	172356293		1873	4109	5982	-	-	-	SO:0001819	synonymous_variant	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2097C>T	1.37:g.172356293C>T			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.S693	ENST00000355305.5	37	c.2079		1																																																																																			DNM3	-	pfam_GED,smart_GED	ENSG00000197959		0.453	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	47	0.00	0	C	NM_015569		172356293	172356293	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.004	T
DUOX2	50506	genome.wustl.edu	37	15	45387138	45387138	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:45387138A>C	ENST00000603300.1	-	32	4593	c.4391T>G	c.(4390-4392)aTg>aGg	p.M1464R	DUOX2_ENST00000389039.6_Missense_Mutation_p.M1464R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1464					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACATACTAGCATGGTGGTCCT	0.607																																						dbGAP											0													91.0	79.0	83.0					15																	45387138		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4391T>G	15.37:g.45387138A>C	ENSP00000475084:p.Met1464Arg		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.M1464R	ENST00000603300.1	37	c.4391	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380399	0.82682	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.41	5.41	0.78517	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.69823	2.125	0.80722	D	1	D	0.53745	0.962	D	0.65987	0.94	T	0.79964	-0.1581	9	0.87932	D	0	-34.3349	14.9172	0.70807	1.0:0.0:0.0:0.0	.	1464	Q9NRD8	DUOX2_HUMAN	R	1464	.	ENSP00000373691:M1464R	M	-	2	0	DUOX2	43174430	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.245000	0.95431	2.180000	0.69256	0.379000	0.24179	ATG	DUOX2	-	pfam_Fe_red_NAD-bd_6	ENSG00000140279		0.607	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		44	0.00	0	A	NM_014080		45387138	45387138	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	C
ECE1	1889	genome.wustl.edu	37	1	21551856	21551856	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:21551856C>T	ENST00000374893.6	-	17	2001	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ECE1_ENST00000415912.2_Missense_Mutation_p.E627K|ECE1_ENST00000264205.6_Missense_Mutation_p.E640K|ECE1_ENST00000436918.2_Missense_Mutation_p.E643K|ECE1_ENST00000357071.4_Missense_Mutation_p.E631K	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	643					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACCATGCACTCGGTCTGACGC	0.617																																						dbGAP											0													144.0	118.0	127.0					1																	21551856		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1927G>A	1.37:g.21551856C>T	ENSP00000364028:p.Glu643Lys		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E643K	ENST00000374893.6	37	c.1927	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790668	0.70452	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.36	5.36	0.76844	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.239979	0.43260	D	0.000585	T	0.71367	0.3331	N	0.25426	0.745	0.48040	D	0.999576	B;P;B;B;P	0.45428	0.124;0.858;0.093;0.228;0.829	B;B;B;B;B	0.38842	0.044;0.283;0.016;0.076;0.186	T	0.74711	-0.3573	10	0.45353	T	0.12	-29.9614	17.6751	0.88228	0.0:1.0:0.0:0.0	.	643;627;643;631;640	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	K	627;631;643;643;640	ENSP00000405088:E627K;ENSP00000349581:E631K;ENSP00000364028:E643K;ENSP00000388439:E643K;ENSP00000264205:E640K	ENSP00000264205:E640K	E	-	1	0	ECE1	21424443	0.994000	0.37717	0.963000	0.40424	0.973000	0.67179	2.762000	0.47597	2.500000	0.84329	0.467000	0.42956	GAG	ECE1	-	pfam_Peptidase_M13_C	ENSG00000117298		0.617	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	58	0.00	0	C	NM_001397		21551856	21551856	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.995	T
ELAVL3	1995	genome.wustl.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	RN7SL669P_ENST00000581926.1_RNA|CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs		Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A18fs	ENST00000359227.3	37	c.48_47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	53	0.00	0	-	NM_001420		11577604	11577605	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	frame_shift_ins	96	14.29	16	INS	1.000:1.000	C
ENGASE	64772	genome.wustl.edu	37	17	77081356	77081357	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:77081356_77081357insCC	ENST00000579016.1	+	12	1632_1633	c.1632_1633insCC	c.(1633-1635)cccfs	p.P545fs		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	545						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCTCCGGGTGCCCCCCACCAA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1637_1638dupCC	17.37:g.77081361_77081362dupCC	ENSP00000462333:p.Pro545fs		Q659F0|Q8TB86|Q9H6U4	Frame_Shift_Ins	INS	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.T546fs	ENST00000579016.1	37	c.1632_1633	CCDS42394.1	17																																																																																			ENGASE	-	NULL	ENSG00000167280		0.599	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	21	0.00	0	-	NM_022759		77081356	77081357	+1	no_errors	ENST00000579016	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:1.000	CC
EPC1	80314	genome.wustl.edu	37	10	32576120	32576120	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:32576120G>T	ENST00000263062.8	-	7	1327	c.1058C>A	c.(1057-1059)cCc>cAc	p.P353H	EPC1_ENST00000319778.6_Missense_Mutation_p.P353H|EPC1_ENST00000375110.2_Missense_Mutation_p.P303H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	353					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CGTCTGTTGGGGAGTAGCAGC	0.473																																						dbGAP											0													150.0	130.0	137.0					10																	32576120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1058C>A	10.37:g.32576120G>T	ENSP00000263062:p.Pro353His		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.P353H	ENST00000263062.8	37	c.1058	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484011	0.84854	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67698	-0.28;-0.28;-0.28	4.96	4.96	0.65561	.	0.258230	0.46758	D	0.000269	T	0.75265	0.3826	L	0.53249	1.67	0.58432	D	0.999997	P;D;P;D	0.59357	0.747;0.985;0.889;0.975	P;P;P;P	0.58077	0.497;0.77;0.789;0.832	T	0.74542	-0.3631	10	0.37606	T	0.19	-2.309	18.2033	0.89846	0.0:0.0:1.0:0.0	.	353;303;353;353	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	303;353;353	ENSP00000364251:P303H;ENSP00000318559:P353H;ENSP00000263062:P353H	ENSP00000263062:P353H	P	-	2	0	EPC1	32616126	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	9.803000	0.99136	2.284000	0.76573	0.557000	0.71058	CCC	EPC1	-	NULL	ENSG00000120616		0.473	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	89	0.00	0	G			32576120	32576120	-1	no_errors	ENST00000263062	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	1.000	T
EPHX4	253152	genome.wustl.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Q8NCC6	Frame_Shift_Ins	INS	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.M173fs	ENST00000370383.4	37	c.508_509	CCDS736.1	1																																																																																			EPHX4	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	ENSG00000172031		0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	64	0.00	0	-	NM_173567		92511121	92511122	+1	no_errors	ENST00000370383	ensembl	human	known	69_37n	frame_shift_ins	106	13.11	16	INS	1.000:1.000	G
FAM135B	51059	genome.wustl.edu	37	8	139164094	139164095	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:139164094_139164095insC	ENST00000395297.1	-	13	2793_2794	c.2623_2624insG	c.(2623-2625)accfs	p.T875fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	875										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGACCTTTGGTTTCAACACCT	0.48										HNSCC(54;0.14)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2623_2624insG	8.37:g.139164094_139164095insC	ENSP00000378710:p.Thr875fs		B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Ins	INS	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.T875fs	ENST00000395297.1	37	c.2624_2623	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.480	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	57	0.00	0	-	NM_015912		139164094	139164095	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	frame_shift_ins	84	40.00	56	INS	1.000:0.979	C
FAM21A	387680	genome.wustl.edu	37	10	51853633	51853633	+	Missense_Mutation	SNP	C	C	T	rs199520696	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:51853633C>T	ENST00000282633.5	+	13	1181	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	FAM21A_ENST00000351071.6_Missense_Mutation_p.T379M|FAM21A_ENST00000399339.2_Missense_Mutation_p.T291M|FAM21A_ENST00000314664.7_Missense_Mutation_p.T379M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	379					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GACCTCTTCACGGAAGCCCCC	0.488																																						dbGAP											0													1.0	1.0	1.0					10																	51853633		353	936	1289	-	-	-	SO:0001583	missense	0			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1136C>T	10.37:g.51853633C>T	ENSP00000282633:p.Thr379Met		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	NULL	p.T379M	ENST00000282633.5	37	c.1136	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444490	0.12164	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.88	-5.37	0.02681	.	0.781535	0.12699	N	0.446536	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29253	0.05;0.02;0.005;0.02;0.239	B;B;B;B;B	0.16722	0.013;0.013;0.003;0.013;0.016	T	0.05767	-1.0865	9	0.42905	T	0.14	2.3495	2.2948	0.04147	0.3714:0.2592:0.2739:0.0955	.	379;379;291;379;273	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	M	379;379;273;379;291	.	ENSP00000282633:T379M	T	+	2	0	FAM21A	51523639	0.024000	0.19004	0.096000	0.21009	0.033000	0.12548	-0.884000	0.04166	-1.796000	0.01253	-1.109000	0.02080	ACG	FAM21A	-	NULL	ENSG00000099290		0.488	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	8	0.00	0	C	NM_001005751		51853633	51853633	+1	no_errors	ENST00000282633	ensembl	human	known	69_37n	missense	7	46.67	7	SNP	0.370	T
FAM50A	9130	genome.wustl.edu	37	X	153674884	153674884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:153674884delT	ENST00000393600.3	+	4	528	c.418delT	c.(418-420)tatfs	p.Y140fs		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	140					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ggCGGCCATGTATGAGGAGGA	0.617																																						dbGAP											0													74.0	48.0	57.0					X																	153674884		2197	4294	6491	-	-	-	SO:0001589	frameshift_variant	0			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.418delT	X.37:g.153674884delT	ENSP00000377225:p.Tyr140fs		A8KAQ4|B2R997|Q5HY37|Q6PJH5	Frame_Shift_Del	DEL	pfam_XAP5	p.Y140fs	ENST00000393600.3	37	c.418	CCDS14751.1	X																																																																																			FAM50A	-	pfam_XAP5	ENSG00000071859		0.617	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	54	0.00	0	T	NM_004699		153674884	153674884	+1	no_errors	ENST00000393600	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.031	-
FAM83E	54854	genome.wustl.edu	37	19	49104544	49104545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:49104544_49104545insC	ENST00000263266.3	-	5	1447_1448	c.1258_1259insG	c.(1258-1260)gaafs	p.E420fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	420										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGAGTCCACTTCCCCCCAGGGG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1259dupG	19.37:g.49104550_49104550dupC	ENSP00000263266:p.Glu420fs		Q9NXK1	Frame_Shift_Ins	INS	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.E420fs	ENST00000263266.3	37	c.1259_1258	CCDS42587.1	19																																																																																			FAM83E	-	NULL	ENSG00000105523		0.688	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	15	0.00	0	-	NM_017708		49104544	49104545	-1	no_errors	ENST00000263266	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.103:0.098	C
FBN3	84467	genome.wustl.edu	37	19	8193948	8193949	+	Frame_Shift_Ins	INS	-	-	G	rs60853419		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:8193948_8193949insG	ENST00000600128.1	-	18	2673_2674	c.2259_2260insC	c.(2257-2262)cccggcfs	p.G754fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G754fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G754fs			Q75N90	FBN3_HUMAN	fibrillin 3	754	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2260dupC	19.37:g.8193955_8193955dupG	ENSP00000470498:p.Gly754fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G753fs	ENST00000600128.1	37	c.2260_2259	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.599	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	26	0.00	0	-	NM_032447		8193948	8193949	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	1.000:0.646	G
FBXW10	10517	genome.wustl.edu	37	17	18675985	18675985	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:18675985A>G	ENST00000395665.4	+	12	2488	c.2267A>G	c.(2266-2268)aAg>aGg	p.K756R	FBXW10_ENST00000308799.4_Missense_Mutation_p.K785R|FBXW10_ENST00000301938.4_Missense_Mutation_p.K703R|FBXW10_ENST00000395667.1_Missense_Mutation_p.K756R			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	756										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGCCGGCCAAGTTCTCTTCA	0.527																																						dbGAP											0													83.0	93.0	90.0					17																	18675985		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2267A>G	17.37:g.18675985A>G	ENSP00000379025:p.Lys756Arg		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K785R	ENST00000395665.4	37	c.2354	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	A	8.192	0.796272	0.16327	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61158	0.18;0.38;0.13;0.27	3.89	-4.72	0.03269	.	0.566060	0.13396	U	0.390992	T	0.29256	0.0728	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.15141	0.004;0.004;0.012;0.004	B;B;B;B	0.15484	0.013;0.006;0.006;0.006	T	0.12993	-1.0526	10	0.23302	T	0.38	.	1.4207	0.02311	0.3864:0.1355:0.3306:0.1476	.	703;785;756;756	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	R	756;785;703;756	ENSP00000379026:K756R;ENSP00000310382:K785R;ENSP00000306937:K703R;ENSP00000379025:K756R	ENSP00000306937:K703R	K	+	2	0	FBXW10	18616710	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.663000	0.05299	-0.965000	0.03591	0.460000	0.39030	AAG	FBXW10	-	NULL	ENSG00000171931		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	24	0.00	0	A	NM_031456		18675985	18675985	+1	no_errors	ENST00000308799	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.001	G
FBXW9	84261	genome.wustl.edu	37	19	12800973	12800974	+	Frame_Shift_Ins	INS	-	-	C	rs202013059	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:12800973_12800974insC	ENST00000380339.3	-	6	960_961	c.924_925insG	c.(922-927)gggcctfs	p.P309fs	FBXW9_ENST00000393261.3_Intron|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Frame_Shift_Ins_p.P299fs|FBXW9_ENST00000544494.1_Intron|CTD-2192J16.26_ENST00000593554.1_lincRNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	309					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.925dupG	19.37:g.12800981_12800981dupC	ENSP00000369696:p.Pro309fs		B3KVP7|Q9BT89	Frame_Shift_Ins	INS	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.P308fs	ENST00000380339.3	37	c.925_924		19																																																																																			FBXW9	-	superfamily_WD40_repeat_dom	ENSG00000132004		0.624	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		21	0.00	0	-	NM_032301		12800973	12800974	-1	no_errors	ENST00000380339	ensembl	human	known	69_37n	frame_shift_ins	78	11.36	10	INS	0.001:0.002	C
FLT3LG	2323	genome.wustl.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		CTD-3148I10.15_ENST00000595815.1_RNA|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000595510.1_Splice_Site|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																						dbGAP											1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)																																								-	-	-	SO:0001630	splice_region_variant	0			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1->C	19.37:g.49982174_49982174dupC			A0AVC2|B9EGH2|Q05C96	Frame_Shift_Ins	INS	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.S118fs	ENST00000594009.1	37	c.344_343	CCDS12767.1	19																																																																																			FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	16	0.00	0	-		Intron	49982165	49982166	+1	no_errors	ENST00000204637	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:1.000	C
FN3K	64122	genome.wustl.edu	37	17	80708457	80708458	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:80708457_80708458insG	ENST00000300784.7	+	6	818_819	c.756_757insG	c.(757-759)gggfs	p.G253fs	TBCD_ENST00000355528.4_5'Flank|TBCD_ENST00000397466.2_5'Flank|TBCD_ENST00000539345.2_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	253					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCTTGATGTTTGGGGGGTTCCC	0.579																																					Melanoma(10;391 597 14592 32548 32749)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.762dupG	17.37:g.80708463_80708463dupG	ENSP00000300784:p.Gly253fs			Frame_Shift_Ins	INS	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.F254fs	ENST00000300784.7	37	c.756_757	CCDS11818.1	17																																																																																			FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.579	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	13	0.00	0	-	NM_022158		80708457	80708458	+1	no_errors	ENST00000300784	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.961:1.000	G
GALNT7	51809	genome.wustl.edu	37	4	174169248	174169248	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr4:174169248T>A	ENST00000265000.4	+	2	327	c.244T>A	c.(244-246)Tta>Ata	p.L82I	GALNT7_ENST00000512285.1_Missense_Mutation_p.L82I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	82					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AGAAGTGGACTTAGAGTCTAT	0.478																																						dbGAP											0													75.0	69.0	71.0					4																	174169248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.244T>A	4.37:g.174169248T>A	ENSP00000265000:p.Leu82Ile		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L82I	ENST00000265000.4	37	c.244	CCDS3815.1	4	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001795	0.74932	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.59906	0.23;1.07	5.7	3.19	0.36642	.	0.438759	0.15519	U	0.258129	T	0.45856	0.1363	L	0.55481	1.735	0.50171	D	0.99985	P	0.37441	0.595	B	0.31016	0.123	T	0.36407	-0.9749	10	0.56958	D	0.05	.	5.8541	0.18710	0.0:0.1408:0.1411:0.7181	.	82	Q86SF2	GALT7_HUMAN	I	82	ENSP00000265000:L82I;ENSP00000427050:L82I	ENSP00000265000:L82I	L	+	1	2	GALNT7	174405823	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.817000	0.48034	0.404000	0.25506	0.533000	0.62120	TTA	GALNT7	-	NULL	ENSG00000109586		0.478	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	23	0.00	0	T	NM_017423		174169248	174169248	+1	no_errors	ENST00000265000	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	A
GATA1	2623	genome.wustl.edu	37	X	48652249	48652249	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:48652249G>A	ENST00000376670.3	+	6	1031	c.920G>A	c.(919-921)cGc>cAc	p.R307H	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	307					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACTCGAAACCGCAAGGCATCT	0.587			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	dbGAP		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													30.0	27.0	28.0					X																	48652249		2203	4299	6502	-	-	-	SO:0001583	missense	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.920G>A	X.37:g.48652249G>A	ENSP00000365858:p.Arg307His		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.R307H	ENST00000376670.3	37	c.920	CCDS14305.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.7|23.7	4.442434|4.442434	0.83993|0.83993	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670	.|D	.|0.99704	.|-6.46	3.94|3.94	3.07|3.07	0.35406|0.35406	.|Zinc finger, NHR/GATA-type (1);	.|0.065597	.|0.64402	.|U	.|0.000012	D|D	0.99609|0.99609	0.9858|0.9858	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.99113|0.99113	1.0847|1.0847	5|10	.|0.87932	.|D	.|0	-7.541|-7.541	8.5862|8.5862	0.33660|0.33660	0.1189:0.0:0.8811:0.0|0.1189:0.0:0.8811:0.0	.|.	.|307	.|P15976	.|GATA1_HUMAN	T|H	72|307	.|ENSP00000365858:R307H	.|ENSP00000365858:R307H	A|R	+|+	1|2	0|0	GATA1|GATA1	48537193|48537193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.349000|7.349000	0.79376|0.79376	0.697000|0.697000	0.31718|0.31718	0.365000|0.365000	0.22127|0.22127	GCA|CGC	GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	18	0.00	0	G	NM_002049		48652249	48652249	+1	no_errors	ENST00000376670	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	A
GBP7	388646	genome.wustl.edu	37	1	89630532	89630532	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:89630532A>T	ENST00000294671.2	-	3	338	c.200T>A	c.(199-201)cTg>cAg	p.L67Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	67	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGTGCAGCCCAGAGGGAAGCC	0.512																																						dbGAP											0													72.0	67.0	69.0					1																	89630532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.200T>A	1.37:g.89630532A>T	ENSP00000294671:p.Leu67Gln			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L67Q	ENST00000294671.2	37	c.200	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367642	0.42003	.	.	ENSG00000213512	ENST00000294671	T	0.79033	-1.23	3.43	3.43	0.39272	Guanylate-binding protein, N-terminal (1);	0.090823	0.44285	D	0.000469	D	0.89458	0.6721	H	0.97214	3.96	0.40479	D	0.980425	D	0.89917	1.0	D	0.77004	0.989	D	0.91391	0.5135	10	0.87932	D	0	.	10.1518	0.42799	1.0:0.0:0.0:0.0	.	67	Q8N8V2	GBP7_HUMAN	Q	67	ENSP00000294671:L67Q	ENSP00000294671:L67Q	L	-	2	0	GBP7	89403120	1.000000	0.71417	0.828000	0.32881	0.238000	0.25445	4.942000	0.63547	1.550000	0.49438	0.379000	0.24179	CTG	GBP7	-	pfam_Guanylate-bd_N	ENSG00000213512		0.512	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	42	0.00	0	A	NM_207398		89630532	89630532	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	0.173	T
GCAT	23464	genome.wustl.edu	37	22	38212267	38212267	+	Frame_Shift_Del	DEL	C	C	-	rs146372794		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:38212267delC	ENST00000248924.6	+	8	1103	c.1047delC	c.(1045-1047)tgcfs	p.C349fs	GCAT_ENST00000323205.6_Frame_Shift_Del_p.C375fs	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	349					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	ACCCCATCTGCCCTGTGATGC	0.597																																						dbGAP											0													60.0	50.0	53.0					22																	38212267		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.1047delC	22.37:g.38212267delC	ENSP00000248924:p.Cys349fs		E2QC23|Q6ZWF1|Q96CA9	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.P350fs	ENST00000248924.6	37	c.1047	CCDS13957.1	22																																																																																			GCAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	ENSG00000100116		0.597	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	15	0.00	0	C	NM_014291.2		38212267	38212267	+1	no_errors	ENST00000248924	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
GPR83	10888	genome.wustl.edu	37	11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	rs145628763	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:94113625C>T	ENST00000243673.2	-	4	1133	c.962G>A	c.(961-963)cGc>cAc	p.R321H	GPR83_ENST00000539203.2_Missense_Mutation_p.R279H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	321					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21668	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													156.0	124.0	135.0					11																	94113625		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.962G>A	11.37:g.94113625C>T	ENSP00000243673:p.Arg321His		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.R321H	ENST00000243673.2	37	c.962	CCDS8297.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.42	1.632573	0.29068	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.55930	0.49;0.49	5.75	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.577740	0.21375	N	0.075569	T	0.27098	0.0664	N	0.13198	0.31	0.34738	D	0.730436	B	0.02656	0.0	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22706	T	0.39	.	8.1338	0.31043	0.0:0.6896:0.1009:0.2095	.	321	Q9NYM4	GPR83_HUMAN	H	321;279	ENSP00000243673:R321H;ENSP00000441550:R279H	ENSP00000243673:R321H	R	-	2	0	GPR83	93753273	0.613000	0.27009	0.936000	0.37596	0.997000	0.91878	-0.078000	0.11375	-0.929000	0.03757	0.655000	0.94253	CGC	GPR83	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000123901		0.517	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	45	0.00	0	C	NM_016540		94113625	94113625	-1	no_errors	ENST00000243673	ensembl	human	known	69_37n	missense	53	20.90	14	SNP	0.862	T
GRINA	2907	genome.wustl.edu	37	8	145065456	145065457	+	Frame_Shift_Ins	INS	-	-	G	rs568380194		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:145065456_145065457insG	ENST00000313269.5	+	2	343_344	c.65_66insG	c.(64-69)ccggggfs	p.PG22fs	GRINA_ENST00000395068.4_Frame_Shift_Ins_p.PG22fs	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	22	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGATATCCGGGGGGGCCCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.72dupG	8.37:g.145065463_145065463dupG	ENSP00000314380:p.Pro22fs		B3KXM7|O43836|Q8IVW7	Frame_Shift_Ins	INS	pfam_Bax_inhibitor_1-related	p.P25fs	ENST00000313269.5	37	c.65_66	CCDS34961.1	8																																																																																			GRINA	-	NULL	ENSG00000178719		0.644	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GRINA	HGNC	protein_coding	OTTHUMT00000384048.1	15	0.00	0	-	NM_001009184		145065456	145065457	+1	no_errors	ENST00000313269	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:0.997	G
HDAC4	9759	genome.wustl.edu	37	2	240066378	240066378	+	Silent	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:240066378G>A	ENST00000345617.3	-	8	1557	c.766C>T	c.(766-768)Cta>Tta	p.L256L	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.L225L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	256	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCTGCTTTAGCCTGGACCGT	0.522																																						dbGAP											0													77.0	71.0	73.0					2																	240066378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.766C>T	2.37:g.240066378G>A			Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.L256	ENST00000345617.3	37	c.766	CCDS2529.1	2																																																																																			HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.522	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	48	0.00	0	G	NM_006037		240066378	240066378	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	A
HGS	9146	genome.wustl.edu	37	17	79660569	79660570	+	Frame_Shift_Ins	INS	-	-	C	rs150616739		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:79660569_79660570insC	ENST00000329138.4	+	9	834_835	c.699_700insC	c.(700-702)cccfs	p.P234fs		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	234	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACTGAGCTGCCCCCCGAGTA	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.705dupC	17.37:g.79660575_79660575dupC	ENSP00000331201:p.Pro234fs		Q9NR36	Frame_Shift_Ins	INS	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.E235fs	ENST00000329138.4	37	c.699_700	CCDS11784.1	17																																																																																			HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.683	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	17	0.00	0	-	NM_004712		79660569	79660570	+1	no_errors	ENST00000329138	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:1.000	C
IGFLR1	79713	genome.wustl.edu	37	19	36231931	36231932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:36231931_36231932insG	ENST00000592537.1	-	2	250_251	c.150_151insC	c.(148-153)ccctgcfs	p.C51fs	IGFLR1_ENST00000592889.1_Frame_Shift_Ins_p.C51fs|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000246532.1_Frame_Shift_Ins_p.C51fs|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Frame_Shift_Ins_p.C51fs|IGFLR1_ENST00000344990.3_Frame_Shift_Ins_p.C51fs|IGFLR1_ENST00000587101.1_5'Flank			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCACCCGGGCAGGGGGGCGGCC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.151dupC	19.37:g.36231937_36231937dupG	ENSP00000466181:p.Cys51fs		Q8N5X0	Frame_Shift_Ins	INS	superfamily_DEATH-like	p.C50fs	ENST00000592537.1	37	c.151_150	CCDS12472.1	19																																																																																			IGFLR1	-	NULL	ENSG00000126246		0.673	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	IGFLR1	HGNC	protein_coding	OTTHUMT00000459077.1	27	0.00	0	-	NM_024660		36231931	36231932	-1	no_errors	ENST00000246532	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.000:0.000	G
IQCC	55721	genome.wustl.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	pfscan_IQ_motif_EF-hand-BS	p.P470fs	ENST00000291358.6	37	c.1400_1401	CCDS355.1	1																																																																																			IQCC	-	NULL	ENSG00000160051		0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	HGNC	protein_coding	OTTHUMT00000015731.3	20	0.00	0	-	NM_018134		32673442	32673443	+1	no_errors	ENST00000537469	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	0.258:0.332	G
IRS4	8471	genome.wustl.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						dbGAP											0										32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				-	-	-	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs			Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	72	0.00	0	-	NM_003604		107977802	107977803	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	frame_shift_ins	58	15.94	11	INS	0.031:0.016	C
JPH4	84502	genome.wustl.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs|JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs		D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1505_1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	11	0.00	0	-	NM_032452		24040435	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_ins	37	17.78	8	INS	0.051:0.057	C
KERA	11081	genome.wustl.edu	37	12	91445255	91445255	+	Silent	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:91445255C>T	ENST00000266719.3	-	3	1174	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	309					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGCAGGCAGCATGGATG	0.433																																						dbGAP											0													109.0	91.0	97.0					12																	91445255		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.927G>A	12.37:g.91445255C>T				Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L309	ENST00000266719.3	37	c.927	CCDS9037.1	12																																																																																			KERA	-	NULL	ENSG00000139330		0.433	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	47	0.00	0	C	NM_007035		91445255	91445255	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.075	T
ZSWIM8	23053	genome.wustl.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						dbGAP											0									,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				-	-	-	SO:0001589	frameshift_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	pfscan_Znf_SWIM	p.Y1701fs	ENST00000605216.1	37	c.5092_5093		10																																																																																			KIAA0913	-	NULL	ENSG00000214655		0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	66	0.00	0	-	NM_001242487		75560463	75560464	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	frame_shift_ins	61	12.86	9	INS	1.000:1.000	C
KIAA1731	85459	genome.wustl.edu	37	11	93433116	93433117	+	Frame_Shift_Ins	INS	-	-	C	rs546446811		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:93433116_93433117insC	ENST00000325212.6	+	15	5200_5201	c.5038_5039insC	c.(5038-5040)gccfs	p.A1680fs	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Frame_Shift_Ins_p.A1680fs|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1680						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAACATGCAGCCCCCCCAAGT	0.416																																						dbGAP											0										8,2114		1,6,1054						-2.3	0.0			100	6,4230		0,6,2112	no	frameshift	KIAA1731	NM_033395.1		1,12,3166	A1A1,A1R,RR		0.1416,0.377,0.2202				14,6344				-	-	-	SO:0001589	frameshift_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5045dupC	11.37:g.93433123_93433123dupC	ENSP00000316681:p.Ala1680fs		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Frame_Shift_Ins	INS	NULL	p.S1683fs	ENST00000325212.6	37	c.5038_5039	CCDS44708.1	11																																																																																			KIAA1731	-	NULL	ENSG00000166004		0.416	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	72	0.00	0	-	NM_033395		93433116	93433117	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	frame_shift_ins	60	10.45	7	INS	0.000:0.000	C
KLRC1	3821	genome.wustl.edu	37	12	10603569	10603569	+	Splice_Site	SNP	C	C	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:10603569C>A	ENST00000359151.3	-	2	368	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	KLRC1_ENST00000347831.5_Splice_Site_p.D63Y|KLRC1_ENST00000408006.3_Splice_Site_p.D63Y|KLRC1_ENST00000544822.1_Splice_Site_p.D63Y|KLRC1_ENST00000536188.1_Splice_Site_p.D63Y	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	63					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AATGCTTTACCTTTGCAGTGA	0.388																																						dbGAP											0													141.0	144.0	143.0					12																	10603569		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.187+1G>T	12.37:g.10603569C>A				Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D63Y	ENST00000359151.3	37	c.187	CCDS8625.1	12	.	.	.	.	.	.	.	.	.	.	C	1.756	-0.487975	0.04352	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	3.96	2.95	0.34219	.	0.790506	0.11402	N	0.567664	T	0.16428	0.0395	M	0.70595	2.14	0.25201	N	0.990059	B;D	0.55605	0.298;0.972	B;P	0.56700	0.111;0.804	T	0.05053	-1.0909	9	.	.	.	.	8.0484	0.30564	0.242:0.758:0.0:0.0	.	63;63	P26715-2;P26715	.;NKG2A_HUMAN	Y	63	ENSP00000441432:D63Y;ENSP00000352064:D63Y;ENSP00000385304:D63Y;ENSP00000256965:D63Y;ENSP00000438038:D63Y	.	D	-	1	0	KLRC1	10494836	0.885000	0.30320	0.970000	0.41538	0.238000	0.25445	0.562000	0.23531	2.140000	0.66376	0.655000	0.94253	GAT	KLRC1	-	pfam_Herpes_UL45-like	ENSG00000134545		0.388	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	139	0.00	0	C	NM_002259	Missense_Mutation	10603569	10603569	-1	no_errors	ENST00000359151	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	0.888	A
KIF5A	3798	genome.wustl.edu	37	12	57975304	57975304	+	Silent	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:57975304C>T	ENST00000455537.2	+	25	3136	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	KIF5A_ENST00000286452.5_Silent_p.Y865Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	954	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCCAGAACTACCAGAATCTCT	0.592																																						dbGAP											0													107.0	94.0	98.0					12																	57975304		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2862C>T	12.37:g.57975304C>T			A6H8M5|Q4LE26	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y954	ENST00000455537.2	37	c.2862	CCDS8945.1	12																																																																																			KIF5A	-	NULL	ENSG00000155980		0.592	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	35	0.00	0	C	NM_004984		57975304	57975304	+1	no_errors	ENST00000455537	ensembl	human	known	69_37n	silent	55	27.63	21	SNP	1.000	T
LARP1	23367	genome.wustl.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:154173389_154173390insC	ENST00000336314.4	+	6	691_692	c.667_668insC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.675dupC	5.37:g.154173397_154173397dupC	ENSP00000336721:p.Ala223fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.T226fs	ENST00000336314.4	37	c.667_668	CCDS4328.1	5																																																																																			LARP1	-	NULL	ENSG00000155506		0.644	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	20	0.00	0	-	NM_033551		154173389	154173390	+1	no_errors	ENST00000336314	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	0.998:0.999	C
LIMK1	3984	genome.wustl.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr7:73535322_73535323insC	ENST00000336180.2	+	15	1775_1776	c.1724_1725insC	c.(1723-1728)tgccccfs	p.CP575fs	LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP605fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP541fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CCCCCAAACTGCCCCCCGAGCT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1730dupC	7.37:g.73535328_73535328dupC	ENSP00000336740:p.Cys575fs		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S578fs	ENST00000336180.2	37	c.1724_1725	CCDS5563.1	7																																																																																			LIMK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000106683		0.653	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	32	0.00	0	-	NM_002314		73535322	73535323	+1	no_errors	ENST00000336180	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	C
LPHN1	22859	genome.wustl.edu	37	19	14263249	14263249	+	Splice_Site	SNP	C	C	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:14263249C>G	ENST00000340736.6	-	22	3833	c.3536G>C	c.(3535-3537)gGt>gCt	p.G1179A	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Splice_Site_p.G1174A	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1179					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCATGGTACCTGGCCAAAG	0.632																																						dbGAP											0													80.0	81.0	81.0					19																	14263249		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3536-1G>C	19.37:g.14263249C>G			Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.G1179A	ENST00000340736.6	37	c.3536	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006263	0.54361	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.69806	-0.43;-0.43	4.99	4.99	0.66335	GPCR, family 2, latrophilin, C-terminal (1);	0.125811	0.52532	D	0.000069	T	0.70228	0.3200	L	0.60455	1.87	0.46437	D	0.999045	P;P	0.36125	0.457;0.538	B;B	0.43838	0.306;0.433	T	0.73905	-0.3835	10	0.66056	D	0.02	.	15.7905	0.78357	0.0:1.0:0.0:0.0	.	1174;1179	O94910-2;O94910	.;LPHN1_HUMAN	A	1179;1174	ENSP00000340688:G1179A;ENSP00000355328:G1174A	ENSP00000340688:G1179A	G	-	2	0	LPHN1	14124249	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	3.548000	0.53670	2.320000	0.78422	0.561000	0.74099	GGT	LPHN1	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000072071		0.632	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	72	0.00	0	C	NM_014921	Missense_Mutation	14263249	14263249	-1	no_errors	ENST00000340736	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	G
LRP1	4035	genome.wustl.edu	37	12	57574482	57574482	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:57574482G>A	ENST00000243077.3	+	33	5885	c.5419G>A	c.(5419-5421)Gaa>Aaa	p.E1807K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1807					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAGGTGTCGGAAAAGATGGG	0.612																																						dbGAP											0													91.0	86.0	88.0					12																	57574482		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5419G>A	12.37:g.57574482G>A	ENSP00000243077:p.Glu1807Lys		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1807K	ENST00000243077.3	37	c.5419	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297798	0.60086	.	.	ENSG00000123384	ENST00000243077	D	0.90788	-2.73	4.71	4.71	0.59529	Six-bladed beta-propeller, TolB-like (1);	0.071849	0.53938	D	0.000054	T	0.78648	0.4316	N	0.04820	-0.15	0.80722	D	1	B	0.26002	0.139	B	0.21917	0.037	T	0.75414	-0.3326	10	0.07030	T	0.85	.	16.9336	0.86197	0.0:0.0:1.0:0.0	.	1807	Q07954	LRP1_HUMAN	K	1807	ENSP00000243077:E1807K	ENSP00000243077:E1807K	E	+	1	0	LRP1	55860749	1.000000	0.71417	0.991000	0.47740	0.806000	0.45545	9.601000	0.98297	2.599000	0.87857	0.563000	0.77884	GAA	LRP1	-	smart_LDLR_classB_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	47	0.00	0	G	NM_002332		57574482	57574482	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	A
LRP10	26020	genome.wustl.edu	37	14	23346239	23346240	+	Frame_Shift_Ins	INS	-	-	G	rs145952893|rs142122830		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:23346239_23346240insG	ENST00000359591.4	+	7	2336_2337	c.1645_1646insG	c.(1645-1647)cggfs	p.R549fs	LRP10_ENST00000546834.1_Frame_Shift_Ins_p.R549fs|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	549	Arg-rich.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCGTCGTCAGCGGGGCCGCTTG	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1649dupG	14.37:g.23346243_23346243dupG	ENSP00000352601:p.Arg549fs		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R551fs	ENST00000359591.4	37	c.1645_1646	CCDS9578.1	14																																																																																			LRP10	-	NULL	ENSG00000197324		0.653	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	23	0.00	0	-			23346239	23346240	+1	no_errors	ENST00000359591	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:1.000	G
LRTM1	57408	genome.wustl.edu	37	3	54952915	54952916	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:54952915_54952916insC	ENST00000273286.5	-	3	770_771	c.608_609insG	c.(607-609)ggafs	p.G203fs	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Frame_Shift_Ins_p.G127fs|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	203	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CGTCTGTTAGTCCCCCTTTAAA	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.609dupG	3.37:g.54952920_54952920dupC	ENSP00000273286:p.Gly203fs		Q8IUU2	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L204fs	ENST00000273286.5	37	c.609_608	CCDS2876.1	3																																																																																			LRTM1	-	smart_Cys-rich_flank_reg_C	ENSG00000144771		0.455	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	26	0.00	0	-	NM_020678		54952915	54952916	-1	no_errors	ENST00000273286	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.887:1.000	C
MAGED2	10916	genome.wustl.edu	37	X	54836184	54836184	+	Silent	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:54836184G>T	ENST00000375068.1	+	3	308	c.75G>T	c.(73-75)tcG>tcT	p.S25S	MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375058.1_Silent_p.S25S|MAGED2_ENST00000396224.1_Silent_p.S25S|MAGED2_ENST00000375062.4_Silent_p.S25S|MAGED2_ENST00000375053.2_Silent_p.S25S|MAGED2_ENST00000375060.1_Silent_p.S25S|MAGED2_ENST00000218439.4_Silent_p.S25S|MAGED2_ENST00000347546.4_Silent_p.S25S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	25						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACAGTAGCTCGATGATGCAGA	0.512																																						dbGAP											0													100.0	87.0	91.0					X																	54836184		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.75G>T	X.37:g.54836184G>T			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S25	ENST00000375068.1	37	c.75	CCDS14362.1	X																																																																																			MAGED2	-	NULL	ENSG00000102316		0.512	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	76	0.00	0	G	NM_014599		54836184	54836184	+1	no_errors	ENST00000218439	ensembl	human	known	69_37n	silent	148	22.92	44	SNP	0.000	T
MAP1A	4130	genome.wustl.edu	37	15	43822051	43822052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:43822051_43822052insG	ENST00000300231.5	+	5	8689_8690	c.8239_8240insG	c.(8239-8241)tggfs	p.W2747fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.W2747fs|MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.W2985fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2747					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCCCAGTGGGGGGAGAAT	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8245dupG	15.37:g.43822057_43822057dupG	ENSP00000300231:p.Trp2747fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	NULL	p.E2749fs	ENST00000300231.5	37	c.8239_8240	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.554	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	18	0.00	0	-	NM_002373		43822051	43822052	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	G
MAP1B	4131	genome.wustl.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		A2BDK5	Frame_Shift_Ins	INS	pfam_MAP1B_neuraxin	p.E1968fs	ENST00000296755.7	37	c.5894_5895	CCDS4012.1	5																																																																																			MAP1B	-	pfam_MAP1B_neuraxin	ENSG00000131711		0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	22	0.00	0	-	NM_005909		71495076	71495077	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	frame_shift_ins	15	21.05	4	INS	0.926:0.932	C
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																						dbGAP											2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				-	-	-	SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	30	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	38	15.56	7	INS	0.999:1.000	C
MED13	9969	genome.wustl.edu	37	17	60023924	60023924	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:60023924T>C	ENST00000397786.2	-	30	6506	c.6430A>G	c.(6430-6432)Acc>Gcc	p.T2144A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2144					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGTCACAGGTTAGCCAGGAG	0.383																																						dbGAP											0													82.0	78.0	80.0					17																	60023924		1876	4115	5991	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6430A>G	17.37:g.60023924T>C	ENSP00000380888:p.Thr2144Ala		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.T2144A	ENST00000397786.2	37	c.6430	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016012	0.35606	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.79749	-1.3	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	L	0.46157	1.445	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.83056	-0.0150	10	0.25751	T	0.34	-6.6617	14.6897	0.69076	0.0:0.0:0.0:1.0	.	2144	Q9UHV7	MED13_HUMAN	A	2144;2143	ENSP00000380888:T2144A	ENSP00000262436:T2143A	T	-	1	0	MED13	57378706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	1.876000	0.54355	0.482000	0.46254	ACC	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	50	0.00	0	T	NM_005121		60023924	60023924	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	32	38.46	20	SNP	1.000	C
METTL20	254013	genome.wustl.edu	37	12	31820847	31820847	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:31820847G>A	ENST00000357721.3	+	4	927	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	METTL20_ENST00000538391.1_3'UTR|METTL20_ENST00000538463.1_Missense_Mutation_p.E238K|METTL20_ENST00000412352.2_Missense_Mutation_p.E238K|METTL20_ENST00000395763.3_Missense_Mutation_p.E238K	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	238						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						CAAAGTGGTAGAATATTCACT	0.483																																						dbGAP											0													99.0	97.0	97.0					12																	31820847		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.712G>A	12.37:g.31820847G>A	ENSP00000350353:p.Glu238Lys		D3DUW3	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like	p.E238K	ENST00000357721.3	37	c.712	CCDS8724.1	12	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539515	0.27563	.	.	ENSG00000139160	ENST00000412352;ENST00000395763;ENST00000538463;ENST00000357721	.	.	.	5.5	4.59	0.56863	.	0.212890	0.49916	D	0.000134	T	0.56455	0.1986	M	0.69185	2.1	0.46437	D	0.999044	B	0.27117	0.168	B	0.20577	0.03	T	0.54735	-0.8249	9	0.33940	T	0.23	-21.0801	10.7609	0.46264	0.072:0.1328:0.7952:0.0	.	238	Q8IXQ9	MET20_HUMAN	K	238	.	ENSP00000350353:E238K	E	+	1	0	METTL20	31712114	0.999000	0.42202	0.177000	0.23020	0.064000	0.16182	3.190000	0.50973	2.752000	0.94435	0.655000	0.94253	GAA	METTL20	-	NULL	ENSG00000139160		0.483	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	METTL20	HGNC	protein_coding	OTTHUMT00000402196.1	40	0.00	0	G	NM_173802		31820847	31820847	+1	no_errors	ENST00000357721	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.965	A
MMP25	64386	genome.wustl.edu	37	16	3100449	3100450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:3100449_3100450insG	ENST00000336577.4	+	4	800_801	c.563_564insG	c.(562-567)ttggggfs	p.LG188fs	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	201					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TTCGACGGGTTGGGGGGCACCC	0.604																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.569dupG	16.37:g.3100455_3100455dupG	ENSP00000337816:p.Leu188fs		Q96F04|Q96TE2	Frame_Shift_Ins	INS	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.T191fs	ENST00000336577.4	37	c.563_564	CCDS10492.1	16																																																																																			MMP25	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	ENSG00000008516		0.604	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1	24	0.00	0	-	NM_022468		3100449	3100450	+1	no_errors	ENST00000336577	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.011:0.021	G
MPRIP	23164	genome.wustl.edu	37	17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:17046885_17046886insC	ENST00000341712.4	+	9	1051_1052	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000395811.5_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000444976.1_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1058dupC	17.37:g.17046892_17046892dupC	ENSP00000342379:p.Ala351fs		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A354fs	ENST00000341712.4	37	c.1051_1052	CCDS32578.1	17																																																																																			MPRIP	-	NULL	ENSG00000133030		0.649	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1	26	0.00	0	-	NM_015134		17046885	17046886	+1	no_errors	ENST00000395811	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.999:0.999	C
MYOF	26509	genome.wustl.edu	37	10	95093659	95093659	+	Silent	SNP	C	C	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:95093659C>G	ENST00000359263.4	-	42	4574	c.4575G>C	c.(4573-4575)cgG>cgC	p.R1525R	MYOF_ENST00000371502.4_Silent_p.R1544R|MYOF_ENST00000371501.4_Silent_p.R1525R|MYOF_ENST00000358334.5_Silent_p.R1512R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1525					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGGGTAGATCCGAAAGGAGC	0.607																																						dbGAP											0													31.0	32.0	32.0					10																	95093659		2019	4194	6213	-	-	-	SO:0001819	synonymous_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4575G>C	10.37:g.95093659C>G			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_Ferlin_B-domain,pfam_C2_Ca-dep,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peroxin/Ferlin,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G919A	ENST00000359263.4	37	c.2756	CCDS41551.1	10																																																																																			MYOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000138119		0.607	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	26	0.00	0	C	NM_013451		95093659	95093659	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000463743	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.151	G
NKTR	4820	genome.wustl.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs			Frame_Shift_Ins	INS	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.S616fs	ENST00000232978.8	37	c.1839_1840	CCDS2702.1	3																																																																																			NKTR	-	NULL	ENSG00000114857		0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	25	0.00	0	-	NM_005385		42679035	42679036	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	frame_shift_ins	24	14.29	4	INS	0.992:1.000	C
NOL7	51406	genome.wustl.edu	37	6	13620991	13620992	+	Frame_Shift_Ins	INS	-	-	AA	rs544905440	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr6:13620991_13620992insAA	ENST00000451315.2	+	8	738_739	c.706_707insAA	c.(706-708)caafs	p.Q236fs	RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Frame_Shift_Ins_p.W44fs	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			TCTAGGAATCCAAAAAAAACAA	0.267																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.713_714dupAA	6.37:g.13620998_13620999dupAA	ENSP00000405674:p.Gln236fs		Q5T297|Q9Y3U7	Frame_Shift_Ins	INS	pfam_NUC129	p.Q239fs	ENST00000451315.2	37	c.706_707	CCDS4528.1	6																																																																																			NOL7	-	NULL	ENSG00000225921		0.267	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL7	HGNC	protein_coding	OTTHUMT00000039904.1	30	0.00	0	-	NM_016167		13620991	13620992	+1	no_errors	ENST00000451315	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.542:0.993	AA
NOVA1	4857	genome.wustl.edu	37	14	26917796	26917796	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:26917796G>T	ENST00000539517.2	-	5	1210	c.893C>A	c.(892-894)gCa>gAa	p.A298E	NOVA1_ENST00000267422.7_Missense_Mutation_p.A176E|NOVA1_ENST00000465357.2_Missense_Mutation_p.A274E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	301	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGAAAGGCTGCAACGCCAGC	0.483																																						dbGAP											0													72.0	68.0	69.0					14																	26917796		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.893C>A	14.37:g.26917796G>T	ENSP00000438875:p.Ala298Glu		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A298E	ENST00000539517.2	37	c.893	CCDS32061.1	14	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436812	0.12104	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.32753	1.46;1.45;1.48;1.44	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	N	0.08118	0	0.80722	D	1	P;P;P	0.52061	0.716;0.856;0.95	B;B;P	0.45610	0.203;0.293;0.487	T	0.04029	-1.0983	10	0.02654	T	1	-3.1534	20.3363	0.98740	0.0:0.0:1.0:0.0	.	301;274;298	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	E	274;298;176;257	ENSP00000447391:A274E;ENSP00000438875:A298E;ENSP00000267422:A176E;ENSP00000408914:A257E	ENSP00000267422:A176E	A	-	2	0	NOVA1	25987636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.344000	0.79328	2.814000	0.96858	0.563000	0.77884	GCA	NOVA1	-	NULL	ENSG00000139910		0.483	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	55	0.00	0	G	NM_006491		26917796	26917796	-1	no_errors	ENST00000539517	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	T
NRXN2	9379	genome.wustl.edu	37	11	64457918	64457919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:64457918_64457919insC	ENST00000377551.1	-	4	1019_1020	c.808_809insG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTCG	0.634																																						dbGAP											1	Insertion - Frameshift(1)	central_nervous_system(1)							,	56,4208		0,56,2076					,	4.6	1.0			37	73,8181		0,73,4054	no	intron,frameshift	NRXN2	NM_138732.2,NM_015080.3	,	0,129,6130	A1A1,A1R,RR		0.8844,1.3133,1.0305	,	,		129,12389				-	-	-	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809dupG	11.37:g.64457926_64457926dupC	ENSP00000366774:p.Ala270fs		A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.809_808	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.634	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	42	0.00	0	-	NM_015080		64457918	64457919	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	frame_shift_ins	173	16.02	33	INS	1.000:1.000	C
NUP93	9688	genome.wustl.edu	37	16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	rs528073782		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:56782199G>A	ENST00000308159.5	+	2	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	NUP93_ENST00000569842.1_Missense_Mutation_p.E14K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	14					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E14K(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	dbGAP											3	Substitution - Missense(3)	breast(2)|upper_aerodigestive_tract(1)											67.0	65.0	66.0					16																	56782199		2198	4300	6498	-	-	-	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.40G>A	16.37:g.56782199G>A	ENSP00000310668:p.Glu14Lys		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.E14K	ENST00000308159.5	37	c.40	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428130	0.83667	.	.	ENSG00000102900	ENST00000308159	T	0.44083	0.93	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.39898	1.24	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.22208	-1.0223	10	0.12103	T	0.63	-21.6196	20.8598	0.99761	0.0:0.0:1.0:0.0	.	14	Q8N1F7	NUP93_HUMAN	K	14	ENSP00000310668:E14K	ENSP00000310668:E14K	E	+	1	0	NUP93	55339700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAA	NUP93	-	NULL	ENSG00000102900		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	26	0.00	0	G	NM_014669		56782199	56782199	+1	no_errors	ENST00000308159	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
OR56A1	120796	genome.wustl.edu	37	11	6048395	6048395	+	Silent	SNP	G	G	A	rs200181037	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:6048395G>A	ENST00000316650.5	-	1	576	c.540C>T	c.(538-540)gtC>gtT	p.V180V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTCTCAATGACATTTTCCC	0.478																																						dbGAP											0													102.0	97.0	99.0					11																	6048395		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.540C>T	11.37:g.6048395G>A			B2RNI2|Q6IFL0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V180	ENST00000316650.5	37	c.540	CCDS31405.1	11																																																																																			OR56A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180934		0.478	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	33	0.00	0	G	NM_001001917		6048395	6048395	-1	no_errors	ENST00000316650	ensembl	human	known	69_37n	silent	41	16.33	8	SNP	0.373	A
OR5M1	390168	genome.wustl.edu	37	11	56380428	56380428	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:56380428A>G	ENST00000526538.1	-	1	550	c.551T>C	c.(550-552)cTt>cCt	p.L184P		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCATGATAAGAGGAGGATC	0.448																																						dbGAP											0													55.0	52.0	53.0					11																	56380428		1899	4098	5997	-	-	-	SO:0001583	missense	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.551T>C	11.37:g.56380428A>G	ENSP00000435416:p.Leu184Pro		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L184P	ENST00000526538.1	37	c.551	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260448	0.23051	.	.	ENSG00000255012	ENST00000526538	T	0.00235	8.48	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35013	N	0.003520	T	0.00875	0.0029	H	0.98005	4.125	0.20703	N	0.999869	D	0.89917	1.0	D	0.87578	0.998	T	0.21245	-1.0251	10	0.87932	D	0	-64.6321	8.3621	0.32365	0.9007:0.0:0.0993:0.0	.	184	Q8NGP8	OR5M1_HUMAN	P	184	ENSP00000435416:L184P	ENSP00000435416:L184P	L	-	2	0	OR5M1	56137004	0.936000	0.31750	0.145000	0.22337	0.195000	0.23768	8.562000	0.90719	1.586000	0.49944	0.232000	0.17820	CTT	OR5M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255012		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	31	0.00	0	A	NM_001004740		56380428	56380428	-1	no_errors	ENST00000526538	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	0.006	G
OR10G4	390264	genome.wustl.edu	37	11	123886720	123886720	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:123886720A>G	ENST00000320891.4	+	1	439	c.439A>G	c.(439-441)Act>Gct	p.T147A		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCCACCGGCACTTGGCTCAG	0.552																																						dbGAP											0													148.0	149.0	149.0					11																	123886720		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.439A>G	11.37:g.123886720A>G	ENSP00000325076:p.Thr147Ala		Q6IEW0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T147A	ENST00000320891.4	37	c.439	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	a	9.148	1.015496	0.19355	.	.	ENSG00000254737	ENST00000320891	T	0.36340	1.26	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.139789	0.32901	N	0.005506	T	0.26085	0.0636	N	0.05230	-0.09	0.20563	N	0.999889	D	0.89917	1.0	D	0.91635	0.999	T	0.36212	-0.9757	10	0.11182	T	0.66	.	1.0171	0.01509	0.5021:0.1969:0.1109:0.19	.	147	Q8NGN3	O10G4_HUMAN	A	147	ENSP00000325076:T147A	ENSP00000325076:T147A	T	+	1	0	OR10G4	123391930	0.008000	0.16893	0.870000	0.34147	0.421000	0.31385	1.502000	0.35704	1.529000	0.49120	0.473000	0.43528	ACT	OR10G4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000254737		0.552	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	63	0.00	0	A	NM_001004462		123886720	123886720	+1	no_errors	ENST00000320891	ensembl	human	known	69_37n	missense	70	23.08	21	SNP	0.267	G
OTUD6B	51633	genome.wustl.edu	37	8	92082559	92082559	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:92082559C>T	ENST00000285420.4	+	1	136	c.37C>T	c.(37-39)Cct>Tct	p.P13S	GS1-251I9.4_ENST00000522817.1_RNA|GS1-251I9.4_ENST00000524003.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GTGGAAGGTGCCTACTAGCCG	0.612																																						dbGAP											0													93.0	107.0	102.0					8																	92082559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.37C>T	8.37:g.92082559C>T	ENSP00000285420:p.Pro13Ser		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.P13S	ENST00000285420.4	37	c.37	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565168	0.27915	.	.	ENSG00000155100	ENST00000285420	T	0.39997	1.05	5.65	-3.5	0.04710	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.25069	N	0.991009	.	.	.	.	.	.	T	0.25641	-1.0126	7	0.13470	T	0.59	0.041	3.8612	0.08996	0.1062:0.3303:0.0963:0.4672	.	.	.	.	S	13	ENSP00000285420:P13S	ENSP00000285420:P13S	P	+	1	0	OTUD6B	92151735	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.459000	0.02370	-0.482000	0.06782	0.655000	0.94253	CCT	OTUD6B	-	NULL	ENSG00000155100		0.612	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	144	0.68	1	C	NM_016023		92082559	92082559	+1	no_errors	ENST00000285420	ensembl	human	known	69_37n	missense	163	23.11	49	SNP	0.000	T
OXER1	165140	genome.wustl.edu	37	2	42990217	42990218	+	Frame_Shift_Ins	INS	-	-	C	rs76606481	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:42990217_42990218insC	ENST00000378661.2	-	1	1183_1184	c.1102_1103insG	c.(1102-1104)gccfs	p.A368fs		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	368					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCCCAGCAAGGCCCGGCTCTGG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1103dupG	2.37:g.42990220_42990220dupC	ENSP00000367930:p.Ala368fs		Q86WP7|Q8NGW4	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A368fs	ENST00000378661.2	37	c.1103_1102	CCDS1810.1	2																																																																																			OXER1	-	NULL	ENSG00000162881		0.658	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXER1	HGNC	protein_coding	OTTHUMT00000250514.1	40	0.00	0	-	NM_148962		42990217	42990218	-1	no_errors	ENST00000378661	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.307:0.263	C
P2RX5	5026	genome.wustl.edu	37	17	3583076	3583076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:3583076delC	ENST00000225328.5	-	11	1465	c.1067delG	c.(1066-1068)ggcfs	p.G356fs	P2RX5_ENST00000547178.1_Frame_Shift_Del_p.G355fs|P2RX5-TAX1BP3_ENST00000550383.1_Frame_Shift_Del_p.G356fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.G332fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.G331fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.G296fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.G355fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.G356fs	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	356					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTCTTCTAGGCCCCTGGACAA	0.657																																						dbGAP											0													37.0	37.0	37.0					17																	3583076		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.1067delG	17.37:g.3583076delC	ENSP00000225328:p.Gly356fs		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Frame_Shift_Del	DEL	pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor	p.G356fs	ENST00000225328.5	37	c.1067	CCDS11034.1	17																																																																																			P2RX5	-	pfam_P2X_purnocptor	ENSG00000083454		0.657	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX5	HGNC	protein_coding	OTTHUMT00000207388.3	13	0.00	0	C	NM_002561, NM_175080, NM_175081		3583076	3583076	-1	no_errors	ENST00000435558	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.072	-
PAK6	56924	genome.wustl.edu	37	15	40566446	40566447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:40566446_40566447insC	ENST00000542403.2	+	8	1958_1959	c.1847_1848insC	c.(1846-1851)agccccfs	p.SP616fs	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Frame_Shift_Ins_p.SP616fs|PAK6_ENST00000260404.4_Frame_Shift_Ins_p.SP616fs|PAK6_ENST00000453867.1_Frame_Shift_Ins_p.SP616fs|PAK6_ENST00000441369.1_Frame_Shift_Ins_p.SP616fs|PAK6_ENST00000455577.2_Intron	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTCCGGGACAGCCCCCCACCCA	0.579											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1853dupC	15.37:g.40566452_40566452dupC	ENSP00000439597:p.Ser616fs	894	A8K2G2|B3KYB0|G5E9R2	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.P619fs	ENST00000542403.2	37	c.1847_1848	CCDS10054.1	15																																																																																			PAK6	-	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	ENSG00000137843		0.579	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	21	0.00	0	-			40566446	40566447	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:1.000	C
PARP14	54625	genome.wustl.edu	37	3	122399783	122399784	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:122399783_122399784insC	ENST00000474629.2	+	1	319_320	c.53_54insC	c.(52-57)gaccccfs	p.DP18fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGGCCCCGACCCCCCGAAGA	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.59dupC	3.37:g.122399789_122399789dupC	ENSP00000418194:p.Asp18fs		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K21fs	ENST00000474629.2	37	c.53_54	CCDS46894.1	3																																																																																			PARP14	-	NULL	ENSG00000173193		0.683	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	11	0.00	0	-	NM_017554		122399783	122399784	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	0.667:0.319	C
PCDHGC3	5098	genome.wustl.edu	37	5	140857258	140857258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:140857258delA	ENST00000308177.3	+	1	1679	c.1575delA	c.(1573-1575)ctafs	p.L525fs	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGCCCCTAGACTATGAGG	0.483																																						dbGAP											0													48.0	51.0	50.0					5																	140857258		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1575delA	5.37:g.140857258delA	ENSP00000312070:p.Leu525fs		O60622|Q08192|Q9Y5C4	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D526fs	ENST00000308177.3	37	c.1575	CCDS4261.1	5																																																																																			PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000240184		0.483	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	21	0.00	0	A	NM_002588		140857258	140857258	+1	no_errors	ENST00000308177	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	1.000	-
PDZRN4	29951	genome.wustl.edu	37	12	41967163	41967163	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:41967163C>A	ENST00000402685.2	+	10	2590	c.2582C>A	c.(2581-2583)tCt>tAt	p.S861Y	PDZRN4_ENST00000298919.7_Missense_Mutation_p.S601Y|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S603Y	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	861							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACAGAAATCTGCAGTCGAG	0.468																																						dbGAP											0													117.0	118.0	118.0					12																	41967163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2582C>A	12.37:g.41967163C>A	ENSP00000384197:p.Ser861Tyr		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.S861Y	ENST00000402685.2	37	c.2582	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914263	0.52546	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.52057	0.68;0.68;0.68	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.73369	0.3578	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.77557	0.978;0.987;0.99	T	0.77531	-0.2553	10	0.72032	D	0.01	-17.082	19.3581	0.94422	0.0:1.0:0.0:0.0	.	861;601;603	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Y	861;603;601	ENSP00000384197:S861Y;ENSP00000439990:S603Y;ENSP00000298919:S601Y	ENSP00000298919:S601Y	S	+	2	0	PDZRN4	40253430	1.000000	0.71417	0.110000	0.21437	0.322000	0.28314	5.731000	0.68554	2.741000	0.93983	0.650000	0.86243	TCT	PDZRN4	-	NULL	ENSG00000165966		0.468	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	31	0.00	0	C	NM_013377		41967163	41967163	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.998	A
PHACTR1	221692	genome.wustl.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.P323fs	ENST00000379350.1	37	c.959_960		6																																																																																			PHACTR1	-	NULL	ENSG00000112137		0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	17	0.00	0	-	XM_166420		13206134	13206135	+1	no_errors	ENST00000432934	ensembl	human	known	69_37n	frame_shift_ins	37	11.90	5	INS	0.246:0.087	G
HOGA1	112817	genome.wustl.edu	37	10	99361620	99361621	+	Frame_Shift_Ins	INS	-	-	G	rs61731946	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:99361620_99361621insG	ENST00000370646.4	+	6	1068_1069	c.707_708insG	c.(706-711)gtggggfs	p.VG236fs	PI4K2A_ENST00000555577.1_Frame_Shift_Ins_p.VG73fs|HOGA1_ENST00000370647.4_Frame_Shift_Ins_p.VG73fs|PI4K2A_ENST00000370649.3_Frame_Shift_Ins_p.VG73fs	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	236					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGAGCTGTGGGGGGCGTCT	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.713dupG	10.37:g.99361626_99361626dupG	ENSP00000359680:p.Val236fs		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom	p.V76fs	ENST00000370646.4	37	c.218_219	CCDS7467.1	10																																																																																			PI4K2A	-	NULL	ENSG00000155252		0.634	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049726.1	13	0.00	0	-	NM_138413		99361620	99361621	+1	no_errors	ENST00000555577	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	1.000:0.996	G
PIK3CB	5291	genome.wustl.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G	rs199713806		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.R604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.R50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAGGGCCTCCCGGGGGGGCAGT	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1811dupC	3.37:g.138413716_138413716dupG	ENSP00000418143:p.Arg604fs		D3DNF0|Q24JU2	Frame_Shift_Ins	INS	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R604fs	ENST00000477593.1	37	c.1811_1810	CCDS3104.1	3																																																																																			PIK3CB	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000051382		0.465	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	32	0.00	0	-			138413709	138413710	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	0.981:0.240	G
PKP1	5317	genome.wustl.edu	37	1	201291149	201291149	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:201291149G>A	ENST00000352845.3	+	9	1454	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PKP1_ENST00000367324.3_Missense_Mutation_p.R464H|PKP1_ENST00000263946.3_Missense_Mutation_p.R485H			Q13835	PKP1_HUMAN	plakophilin 1	485					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTCTCCTACCGCCTGGACGCC	0.632																																						dbGAP											0													123.0	97.0	106.0					1																	201291149		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1454G>A	1.37:g.201291149G>A	ENSP00000295597:p.Arg485His		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R485H	ENST00000352845.3	37	c.1454	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624700	0.87560	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	D;D;D	0.84944	-1.92;-1.92;-1.92	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.118673	0.64402	D	0.000007	T	0.78181	0.4243	L	0.45422	1.42	0.58432	D	0.999999	P;P;P	0.46020	0.769;0.808;0.871	B;B;B	0.32677	0.15;0.071;0.067	T	0.80200	-0.1481	10	0.40728	T	0.16	.	17.0151	0.86416	0.0:0.0:1.0:0.0	.	72;464;485	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	464;485;485	ENSP00000356293:R464H;ENSP00000263946:R485H;ENSP00000295597:R485H	ENSP00000263946:R485H	R	+	2	0	PKP1	199557772	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.227000	0.78070	2.535000	0.85469	0.650000	0.86243	CGC	PKP1	-	superfamily_ARM-type_fold	ENSG00000081277		0.632	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	44	0.00	0	G	NM_000299		201291149	201291149	+1	no_errors	ENST00000263946	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	A
PLEKHD1	400224	genome.wustl.edu	37	14	69967307	69967308	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:69967307_69967308insG	ENST00000322564.7	+	3	469_470	c.257_258insG	c.(256-261)ctggggfs	p.LG86fs		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	86	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(1)|endometrium(1)|kidney(2)	4						GTCATCCCTCTGGGGGGCTGCC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.263dupG	14.37:g.69967313_69967313dupG	ENSP00000317175:p.Leu86fs		B9EJC2	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C89fs	ENST00000322564.7	37	c.257_258	CCDS53903.1	14																																																																																			PLEKHD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000175985		0.614	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	44	0.00	0	-	NM_001161498		69967307	69967308	+1	no_errors	ENST00000322564	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:0.994	G
PLEKHH1	57475	genome.wustl.edu	37	14	68046566	68046566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:68046566delG	ENST00000329153.5	+	22	3288	c.3156delG	c.(3154-3156)ctgfs	p.L1052fs	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1052	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGGGACCTGGAGCACTGCC	0.592																																						dbGAP											0													25.0	26.0	25.0					14																	68046566		1993	4163	6156	-	-	-	SO:0001589	frameshift_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3156delG	14.37:g.68046566delG	ENSP00000330278:p.Leu1052fs		A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E1053fs	ENST00000329153.5	37	c.3156	CCDS45128.1	14																																																																																			PLEKHH1	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000054690		0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	20	0.00	0	G	XM_031054		68046566	68046566	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
PLN	5350	genome.wustl.edu	37	6	118880141	118880141	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr6:118880141A>C	ENST00000357525.5	+	2	249	c.57A>C	c.(55-57)gaA>gaC	p.E19D	CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000419517.2_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	19	Involved in HAX1 binding.				adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		CAACCATTGAAATGCCTCAAC	0.413																																						dbGAP											0													157.0	139.0	145.0					6																	118880141		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.57A>C	6.37:g.118880141A>C	ENSP00000350132:p.Glu19Asp			Missense_Mutation	SNP	pfam_P_lamban,pirsf_P_lamban,tigrfam_P_lamban	p.E19D	ENST00000357525.5	37	c.57	CCDS5120.1	6	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966575	0.53507	.	.	ENSG00000198523	ENST00000357525	D	0.91068	-2.78	5.72	-0.654	0.11443	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	.	.	.	0.42256	D	0.991992	B	0.02656	0.0	B	0.09377	0.004	T	0.67699	-0.5603	9	0.87932	D	0	-4.1883	6.3251	0.21239	0.3375:0.1668:0.4957:0.0	.	19	P26678	PPLA_HUMAN	D	19	ENSP00000350132:E19D	ENSP00000350132:E19D	E	+	3	2	PLN	118986834	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	1.852000	0.39348	-0.100000	0.12241	-0.250000	0.11733	GAA	PLN	-	pfam_P_lamban,pirsf_P_lamban,tigrfam_P_lamban	ENSG00000198523		0.413	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLN	HGNC	protein_coding	OTTHUMT00000041993.1	87	0.00	0	A	NM_002667		118880141	118880141	+1	no_errors	ENST00000357525	ensembl	human	known	69_37n	missense	74	23.47	23	SNP	1.000	C
TMEM256-PLSCR3	100529211	genome.wustl.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs			Frame_Shift_Ins	INS	pfam_Scramblase,superfamily_Tubby_C-like	p.L243fs	ENST00000576362.1	37	c.726_725		17																																																																																			PLSCR3	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000187838		0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	PLSCR3	HGNC	protein_coding	OTTHUMT00000440808.1	34	0.00	0	-			7294058	7294059	-1	no_errors	ENST00000324822	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.637:1.000	C
POLR3E	55718	genome.wustl.edu	37	16	22337509	22337510	+	Frame_Shift_Ins	INS	-	-	C	rs377754724		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:22337509_22337510insC	ENST00000299853.5	+	18	1943_1944	c.1776_1777insC	c.(1777-1779)cccfs	p.P593fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P593fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P557fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P593fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	593					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGGCCAGCCTGCCCCCCGGCCA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1782dupC	16.37:g.22337515_22337515dupC	ENSP00000299853:p.Pro593fs		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	pfam_RNA_pol_III_Rpc5	p.G594fs	ENST00000299853.5	37	c.1776_1777	CCDS10605.1	16																																																																																			POLR3E	-	NULL	ENSG00000058600		0.604	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	18	0.00	0	-	NM_018119		22337509	22337510	+1	no_errors	ENST00000299853	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.991:1.000	C
POTEF	728378	genome.wustl.edu	37	2	130832873	130832873	+	Silent	SNP	G	G	A	rs62165872	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:130832873G>A	ENST00000409914.2	-	17	2571	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	POTEF_ENST00000357462.5_Silent_p.D724D	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	724	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGGGGCATCGTCGCCCGCAA	0.592													.|||	130	0.0259585	0.0174	0.0331	5008	,	,		19488	0.0139		0.0437	False		,,,				2504	0.0266					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2172C>T	2.37:g.130832873G>A			A6NC34	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D724	ENST00000409914.2	37	c.2172	CCDS46409.1	2																																																																																			POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	40	0.00	0	G	NM_001099771		130832873	130832873	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	silent	25	10.71	3	SNP	1.000	A
YPEL1	29799	genome.wustl.edu	37	22	22051065	22051065	+	IGR	DEL	T	T	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:22051065delT	ENST00000339468.3	-	0	4329				PPIL2_ENST00000456792.2_Frame_Shift_Del_p.F478fs|PPIL2_ENST00000412327.1_Intron|PPIL2_ENST00000406385.1_3'UTR|PPIL2_ENST00000335025.8_3'UTR|PPIL2_ENST00000446951.1_Intron	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CTGCCCTTCCTTTTCTCATCA	0.517																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22051065delT			Q65ZA1|Q6GLI6	Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.S479fs	ENST00000339468.3	37	c.1432	CCDS13794.1	22																																																																																			PPIL2	-	NULL	ENSG00000100023		0.517	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	HGNC	protein_coding	OTTHUMT00000320245.1	24	0.00	0	T	NM_013313		22051065	22051065	+1	no_errors	ENST00000456792	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	0.001	-
PPM1F	9647	genome.wustl.edu	37	22	22279889	22279889	+	Intron	DEL	C	C	-	rs534379920		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:22279889delC	ENST00000263212.5	-	7	1091				PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000397495.4_Frame_Shift_Del_p.R346fs|PPM1F_ENST00000538191.1_Intron	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F						cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ACACTCGAGGCCTGGGCTTCC	0.632																																						dbGAP											0													28.0	27.0	28.0					22																	22279889		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.985+52G>-	22.37:g.22279889delC			A8K6G3|B7Z2C3|Q96PM2	Frame_Shift_Del	DEL	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R346fs	ENST00000263212.5	37	c.1038	CCDS13796.1	22																																																																																			PPM1F	-	smart_PP2C-like	ENSG00000100034		0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	19	0.00	0	C	NM_014634		22279889	22279889	-1	no_errors	ENST00000397495	ensembl	human	novel	69_37n	frame_shift_del	12	53.57	15	DEL	0.019	-
PPP6R2	9701	genome.wustl.edu	37	22	50873471	50873472	+	Frame_Shift_Ins	INS	-	-	G	rs540556900|rs144614869	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:50873471_50873472insG	ENST00000216061.5	+	14	1847_1848	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs	PPP6R2_ENST00000359139.3_Frame_Shift_Ins_p.R493fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.R493fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.R494fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	493						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAACCTGGAGCGGGGCCCTGTG	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1481dupG	22.37:g.50873475_50873475dupG	ENSP00000216061:p.Arg493fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Ins	INS	pfam_SAPS,superfamily_ARM-type_fold	p.V496fs	ENST00000216061.5	37	c.1477_1478		22																																																																																			PPP6R2	-	pfam_SAPS	ENSG00000100239		0.668	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	20	0.00	0	-	NM_014678		50873471	50873472	+1	no_errors	ENST00000216061	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:1.000	G
PRDM14	63978	genome.wustl.edu	37	8	70964468	70964468	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:70964468C>G	ENST00000276594.2	-	8	1761	c.1560G>C	c.(1558-1560)aaG>aaC	p.K520N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	520					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TACCACAGTACTTGCATTTGA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	dbGAP											0													163.0	151.0	155.0					8																	70964468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1560G>C	8.37:g.70964468C>G	ENSP00000276594:p.Lys520Asn		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.K520N	ENST00000276594.2	37	c.1560	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786548	0.70337	.	.	ENSG00000147596	ENST00000276594	T	0.19669	2.13	6.08	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	N	0.16567	0.415	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.02646	-1.1129	10	0.44086	T	0.13	-32.0404	9.3011	0.37847	0.0:0.6687:0.0:0.3313	.	520	Q9GZV8	PRD14_HUMAN	N	520	ENSP00000276594:K520N	ENSP00000276594:K520N	K	-	3	2	PRDM14	71127022	0.997000	0.39634	0.988000	0.46212	0.983000	0.72400	0.558000	0.23469	0.910000	0.36722	0.655000	0.94253	AAG	PRDM14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147596		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	44	0.00	0	C			70964468	70964468	-1	no_errors	ENST00000276594	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	1.000	G
PTCH2	8643	genome.wustl.edu	37	1	45288193	45288194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:45288193_45288194insG	ENST00000372192.3	-	22	3635_3636	c.3505_3506insC	c.(3505-3507)ctgfs	p.L1169fs	RNU5E-6P_ENST00000365574.1_RNA|PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1169					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGGG	0.653									Basal Cell Nevus syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3506dupC	1.37:g.45288200_45288200dupG	ENSP00000361266:p.Leu1169fs		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1169fs	ENST00000372192.3	37	c.3506_3505	CCDS516.1	1																																																																																			PTCH2	-	NULL	ENSG00000117425		0.653	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	26	0.00	0	-	NM_003738		45288193	45288194	-1	no_errors	ENST00000372192	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.924:0.616	G
RAB40C	57799	genome.wustl.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:677579_677580insC	ENST00000248139.3	+	6	1006_1007	c.803_804insC	c.(802-807)agccccfs	p.SP268fs	RAB40C_ENST00000535977.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.SP268fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678																																					Melanoma(123;1631 1690 28262 44104 44957)	dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.811dupC	16.37:g.677587_677587dupC	ENSP00000248139:p.Ser268fs		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom	p.Q271fs	ENST00000248139.3	37	c.803_804	CCDS10413.1	16																																																																																			RAB40C	-	NULL	ENSG00000197562		0.678	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4	42	0.00	0	-	NM_021168		677579	677580	+1	no_errors	ENST00000248139	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:1.000	C
RIN1	9610	genome.wustl.edu	37	11	66102471	66102472	+	Frame_Shift_Ins	INS	-	-	G	rs542508252		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:66102471_66102472insG	ENST00000311320.4	-	6	924_925	c.798_799insC	c.(796-801)cccgtcfs	p.V267fs	RIN1_ENST00000530056.1_Frame_Shift_Ins_p.V162fs|RIN1_ENST00000424433.2_Frame_Shift_Ins_p.V162fs|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	267	Pro-rich.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCACGGGGACGGGGGGAGGTG	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.799dupC	11.37:g.66102477_66102477dupG	ENSP00000310406:p.Val267fs		O15010|Q00427|Q96CC8	Frame_Shift_Ins	INS	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.V266fs	ENST00000311320.4	37	c.799_798	CCDS31614.1	11																																																																																			RIN1	-	NULL	ENSG00000174791		0.668	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	19	0.00	0	-	NM_004292		66102471	66102472	-1	no_errors	ENST00000311320	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.390:0.002	G
RPS6KA5	9252	genome.wustl.edu	37	14	91338524	91338524	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:91338524G>C	ENST00000261991.3	-	17	2476	c.2303C>G	c.(2302-2304)tCt>tGt	p.S768C	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S689C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	768					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GTGAGAATGAGAGGAAGAAGA	0.502																																						dbGAP											0													160.0	138.0	146.0					14																	91338524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2303C>G	14.37:g.91338524G>C	ENSP00000261991:p.Ser768Cys		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S768C	ENST00000261991.3	37	c.2303	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714391	0.68730	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.69040	-0.37;-0.37	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.78573	-0.2152	10	0.56958	D	0.05	.	19.2225	0.93803	0.0:0.0:1.0:0.0	.	768	O75582	KS6A5_HUMAN	C	768;689	ENSP00000261991:S768C;ENSP00000442803:S689C	ENSP00000261991:S768C	S	-	2	0	RPS6KA5	90408277	1.000000	0.71417	0.874000	0.34290	0.225000	0.24961	9.559000	0.98135	2.611000	0.88343	0.655000	0.94253	TCT	RPS6KA5	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000100784		0.502	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	109	0.00	0	G	NM_004755		91338524	91338524	-1	no_errors	ENST00000261991	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	1.000	C
RTL1	388015	genome.wustl.edu	37	14	101350009	101350010	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr14:101350009_101350010insG	ENST00000534062.1	-	1	1174_1175	c.1116_1117insC	c.(1114-1119)cccgagfs	p.E373fs	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	373					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGCGGGCCTCGGGGGGCAGCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1117dupC	14.37:g.101350015_101350015dupG	ENSP00000435342:p.Glu373fs		E9PKS8	Frame_Shift_Ins	INS	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.E372fs	ENST00000534062.1	37	c.1117_1116	CCDS53910.1	14																																																																																			RTL1	-	NULL	ENSG00000254656		0.599	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	25	0.00	0	-	NM_001134888		101350009	101350010	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.018:0.004	G
SAMD9L	219285	genome.wustl.edu	37	7	92763785	92763785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr7:92763785delG	ENST00000318238.4	-	5	2716	c.1500delC	c.(1498-1500)ggcfs	p.G500fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.G500fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.G500fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	500					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTCTGATCTGCCGTTGCAGA	0.388																																						dbGAP											0													91.0	93.0	92.0					7																	92763785		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1500delC	7.37:g.92763785delG	ENSP00000326247:p.Gly500fs		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	superfamily_SAM/pointed,pfscan_SAM	p.R501fs	ENST00000318238.4	37	c.1500	CCDS34681.1	7																																																																																			SAMD9L	-	NULL	ENSG00000177409		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	38	0.00	0	G	NM_152703		92763785	92763785	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	frame_shift_del	32	17.95	7	DEL	0.194	-
SAP130	79595	genome.wustl.edu	37	2	128712831	128712831	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:128712831C>A	ENST00000259235.3	-	15	2253	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	SAP130_ENST00000357702.5_Missense_Mutation_p.Q743H|SAP130_ENST00000259234.6_Missense_Mutation_p.Q716H	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	708					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAATGGTAGGCTGATCATTAT	0.522																																						dbGAP											0													129.0	137.0	135.0					2																	128712831		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2124G>T	2.37:g.128712831C>A	ENSP00000259235:p.Gln708His		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.Q743H	ENST00000259235.3	37	c.2229	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948005	0.53186	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.33	3.53	0.40419	.	0.054990	0.85682	D	0.000000	T	0.61627	0.2362	L	0.29908	0.895	0.50467	D	0.999876	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.78314	0.991;0.991;0.986;0.986	T	0.58515	-0.7623	9	0.42905	T	0.14	-6.0719	9.9571	0.41673	0.0:0.7803:0.0:0.2197	.	743;708;273;345	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	H	743;708;716	.	ENSP00000259234:Q716H	Q	-	3	2	SAP130	128429301	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	2.165000	0.42396	0.632000	0.30432	0.632000	0.83419	CAG	SAP130	-	NULL	ENSG00000136715		0.522	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	135	0.74	1	C	NM_024545		128712831	128712831	-1	no_errors	ENST00000357702	ensembl	human	known	69_37n	missense	271	10.53	32	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71394281	71394282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr17:71394281_71394282insG	ENST00000392650.3	-	24	3246_3247	c.3246_3247insC	c.(3244-3249)cccagtfs	p.S1083fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.S1083fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1083	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3247dupC	17.37:g.71394288_71394288dupG	ENSP00000376421:p.Ser1083fs		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1082fs	ENST00000392650.3	37	c.3247_3246	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.619	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	22	0.00	0	-	NM_019064		71394281	71394282	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	frame_shift_ins	15	21.05	4	INS	1.000:1.000	G
SEC16B	89866	genome.wustl.edu	37	1	177927332	177927333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:177927332_177927333insG	ENST00000308284.6	-	10	1388_1389	c.1299_1300insC	c.(1297-1302)cccagtfs	p.S434fs	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Frame_Shift_Ins_p.S435fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	434					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACACTGGGGGGGATCT	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1300dupC	1.37:g.177927339_177927339dupG	ENSP00000308339:p.Ser434fs		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Ins	INS	NULL	p.S433fs	ENST00000308284.6	37	c.1300_1299	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.564	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	20	0.00	0	-	NM_033127		177927332	177927333	-1	no_errors	ENST00000308284	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	0.033:0.033	G
SHISA9	729993	genome.wustl.edu	37	16	13329129	13329129	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:13329129C>T	ENST00000424107.3	+	5	1583	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SHISA9_ENST00000558583.1_Missense_Mutation_p.R421W			B4DS77	SHSA9_HUMAN	shisa family member 9	380					regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202)				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						GTCCCTCCGGCGGCAGGCTTA	0.632																																						dbGAP											0													106.0	130.0	123.0					16																	13329129		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2	16p13.12	2013-07-31	2013-07-31		ENSG00000237515	ENSG00000237515		"""Shisa homologs"""	37231	protein-coding gene	gene with protein product		613346	"""shisa homolog 9 (Xenopus laevis)"""				Standard	NM_001145205		Approved		uc010uyy.2	B4DS77	OTTHUMG00000154258	ENST00000424107.3:c.1138C>T	16.37:g.13329129C>T	ENSP00000407958:p.Arg380Trp		C9J314|C9JCE9	Missense_Mutation	SNP	NULL	p.R421W	ENST00000424107.3	37	c.1261	CCDS45417.2	16	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585605	0.86748	.	.	ENSG00000237515	ENST00000424107	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.75997	0.3926	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78375	-0.2228	8	0.87932	D	0	.	12.2844	0.54783	0.1697:0.8303:0.0:0.0	.	380	B4DS77	SHSA9_HUMAN	W	421	.	ENSP00000407958:R421W	R	+	1	2	SHISA9	13236630	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.501000	0.35693	2.394000	0.81467	0.650000	0.86243	CGG	SHISA9	-	NULL	ENSG00000237515		0.632	SHISA9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHISA9	HGNC	protein_coding	OTTHUMT00000334564.5	32	0.00	0	C	NM_001145204		13329129	13329129	+1	no_errors	ENST00000558583	ensembl	human	known	69_37n	missense	99	30.28	43	SNP	1.000	T
SIGLEC7	27036	genome.wustl.edu	37	19	51647820	51647820	+	Silent	SNP	C	C	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:51647820C>A	ENST00000317643.6	+	2	660	c.591C>A	c.(589-591)acC>acA	p.T197T	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	197	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T197T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCCACCACCCGCTCCTCAG	0.662																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											70.0	70.0	70.0					19																	51647820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.591C>A	19.37:g.51647820C>A			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T197	ENST00000317643.6	37	c.591	CCDS12826.1	19																																																																																			SIGLEC7	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000168995		0.662	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	19	0.00	0	C	NM_016543		51647820	51647820	+1	no_errors	ENST00000317643	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.000	A
SIL1	64374	genome.wustl.edu	37	5	138282853	138282854	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:138282853_138282854delGG	ENST00000394817.2	-	10	1477_1478	c.1338_1339delCC	c.(1336-1341)ttccagfs	p.FQ446fs	SIL1_ENST00000509534.1_Frame_Shift_Del_p.FQ453fs|SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Frame_Shift_Del_p.FQ446fs	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	446					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCAGCTCCTGGAAGTAGCCCT	0.644									Marinesco-Sjgren syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1338_1339delCC	5.37:g.138282853_138282854delGG	ENSP00000378294:p.Phe446fs		D3DQC2|Q8N2L3	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F446fs	ENST00000394817.2	37	c.1339_1338	CCDS4209.1	5																																																																																			SIL1	-	NULL	ENSG00000120725		0.644	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1	16	0.00	0	GG	NM_022464		138282853	138282854	-1	no_errors	ENST00000265195	ensembl	human	known	69_37n	frame_shift_del	9	33.33	5	DEL	0.974:0.994	-
SIL1	64374	genome.wustl.edu	37	5	138282858	138282859	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:138282858_138282859insG	ENST00000394817.2	-	10	1472_1473	c.1333_1334insC	c.(1333-1335)tacfs	p.Y445fs	SIL1_ENST00000509534.1_Frame_Shift_Ins_p.Y452fs|SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Frame_Shift_Ins_p.Y445fs	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	445					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCTGGAAGTAGCCCTCGTCC	0.644									Marinesco-Sjgren syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1333_1334insC	5.37:g.138282858_138282859insG	ENSP00000378294:p.Tyr445fs		D3DQC2|Q8N2L3	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.Y445fs	ENST00000394817.2	37	c.1334_1333	CCDS4209.1	5																																																																																			SIL1	-	NULL	ENSG00000120725		0.644	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1	18	0.00	0	-	NM_022464		138282858	138282859	-1	no_errors	ENST00000265195	ensembl	human	known	69_37n	frame_shift_ins	9	40.00	6	INS	1.000:1.000	G
SPATA2L	124044	genome.wustl.edu	37	16	89764584	89764585	+	Frame_Shift_Ins	INS	-	-	G	rs139957269|rs192192589	byFrequency	TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:89764584_89764585insG	ENST00000289805.5	-	3	500_501	c.432_433insC	c.(430-435)cccgccfs	p.A145fs	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	145										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGCAGGCGGGGGGCAGGG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.433dupC	16.37:g.89764590_89764590dupG	ENSP00000289805:p.Ala145fs		D3DX85|Q8NHV3	Frame_Shift_Ins	INS	NULL	p.A144fs	ENST00000289805.5	37	c.433_432	CCDS10985.1	16																																																																																			SPATA2L	-	NULL	ENSG00000158792		0.658	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1	12	0.00	0	-	NM_152339		89764584	89764585	-1	no_errors	ENST00000289805	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.864:0.008	G
SPTBN5	51332	genome.wustl.edu	37	15	42164624	42164624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr15:42164624delA	ENST00000320955.6	-	27	5268	c.5041delT	c.(5041-5043)tccfs	p.S1681fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1681					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTCCATGGAGCTCCAGTAA	0.632																																						dbGAP											0													34.0	39.0	37.0					15																	42164624		2051	4191	6242	-	-	-	SO:0001589	frameshift_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5041delT	15.37:g.42164624delA	ENSP00000317790:p.Ser1681fs			Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S1681fs	ENST00000320955.6	37	c.5041		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	34	0.00	0	A	NM_016642		42164624	42164624	-1	no_errors	ENST00000320955	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.965	-
SREBF2	6721	genome.wustl.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.A435fs	ENST00000361204.4	37	c.1294_1295	CCDS14023.1	22																																																																																			SREBF2	-	NULL	ENSG00000198911		0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	30	0.00	0	-	NM_004599		42271636	42271637	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	frame_shift_ins	53	11.67	7	INS	1.000:1.000	C
STAT6	6778	genome.wustl.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q281fs	ENST00000300134.3	37	c.842_841	CCDS8931.1	12																																																																																			STAT6	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000166888		0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	26	0.00	0	-	NM_003153		57499093	57499094	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	1.000:1.000	G
STC2	8614	genome.wustl.edu	37	5	172745090	172745090	+	Frame_Shift_Del	DEL	G	G	-	rs11554179		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr5:172745090delG	ENST00000265087.4	-	4	1978	c.669delC	c.(667-669)cccfs	p.P223fs	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	223					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGGCGCTCGGGGGGCGCCG	0.657																																						dbGAP											0													42.0	46.0	45.0					5																	172745090		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.669delC	5.37:g.172745090delG	ENSP00000265087:p.Pro223fs			Frame_Shift_Del	DEL	pfam_Stanniocalcin	p.E224fs	ENST00000265087.4	37	c.669	CCDS4388.1	5																																																																																			STC2	-	NULL	ENSG00000113739		0.657	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	HGNC	protein_coding	OTTHUMT00000252965.1	23	0.00	0	G	NM_003714		172745090	172745090	-1	no_errors	ENST00000265087	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.000	-
SUN1	23353	genome.wustl.edu	37	7	891092	891092	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr7:891092G>T	ENST00000405266.1	+	7	865	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	SUN1_ENST00000401592.1_Missense_Mutation_p.A244S|SUN1_ENST00000413514.2_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000456758.2_Missense_Mutation_p.A433S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	271	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGTGGTCGGCCCTTTGGCT	0.587																																						dbGAP											0													53.0	58.0	56.0					7																	891092		1567	3582	5149	-	-	-	SO:0001583	missense	0			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.841G>T	7.37:g.891092G>T	ENSP00000384116:p.Ala281Ser		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	pfam_RNA-bd_mt,pfam_Sad1_UNC_C	p.A433S	ENST00000405266.1	37	c.1297		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.10|14.10	2.434760|2.434760	0.43224|0.43224	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000429178|ENST00000433212	T;T;T;T|.	0.22539|.	2.26;2.27;2.27;1.95|.	5.63|5.63	2.33|2.33	0.28932|0.28932	.|.	0.806481|.	0.11954|.	N|.	0.513384|.	T|T	0.25419|0.25419	0.0618|0.0618	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;P;P|.	0.46706|.	0.279;0.883;0.682|.	B;B;B|.	0.34590|.	0.104;0.186;0.139|.	T|T	0.21449|0.21449	-1.0245|-1.0245	10|5	0.19590|.	T|.	0.45|.	-6.0907|-6.0907	8.0981|8.0981	0.30840|0.30840	0.0:0.2892:0.3056:0.4052|0.0:0.2892:0.3056:0.4052	.|.	244;433;271|.	E9PF23;A4D2Q0;O94901|.	.;.;SUN1_HUMAN|.	S|V	433;281;244;271;169|92	ENSP00000388743:A433S;ENSP00000384116:A281S;ENSP00000384015:A244S;ENSP00000409909:A169S|.	ENSP00000297445:A271S|.	A|G	+|+	1|2	0|0	SUN1|SUN1	857618|857618	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	0.908000|0.908000	0.28545|0.28545	0.806000|0.806000	0.34183|0.34183	0.655000|0.655000	0.94253|0.94253	GCC|GGC	SUN1	-	NULL	ENSG00000164828		0.587	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	73	0.00	0	G	NM_025154		891092	891092	+1	no_errors	ENST00000456758	ensembl	human	known	69_37n	missense	23	58.18	32	SNP	0.000	T
TEX15	56154	genome.wustl.edu	37	8	30705420	30705420	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:30705420G>C	ENST00000256246.2	-	1	1188	c.1114C>G	c.(1114-1116)Caa>Gaa	p.Q372E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	372					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCATAATTTTGATTTATTTTC	0.358																																						dbGAP											0													80.0	79.0	79.0					8																	30705420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1114C>G	8.37:g.30705420G>C	ENSP00000256246:p.Gln372Glu			Missense_Mutation	SNP	NULL	p.Q372E	ENST00000256246.2	37	c.1114	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	0.223	-1.027335	0.02045	.	.	ENSG00000133863	ENST00000256246	T	0.10668	2.85	5.61	0.266	0.15617	.	1.050550	0.07418	N	0.893555	T	0.09158	0.0226	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40478	-0.9561	10	0.87932	D	0	.	11.5953	0.50970	0.0:0.4112:0.3824:0.2064	.	372	Q9BXT5	TEX15_HUMAN	E	372	ENSP00000256246:Q372E	ENSP00000256246:Q372E	Q	-	1	0	TEX15	30824962	0.115000	0.22152	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	-0.096000	0.12329	-2.489000	0.00195	CAA	TEX15	-	NULL	ENSG00000133863		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	131	0.00	0	G			30705420	30705420	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	0.000	C
TMEM132A	54972	genome.wustl.edu	37	11	60695117	60695118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr11:60695117_60695118insC	ENST00000453848.2	+	3	478_479	c.320_321insC	c.(319-324)gtccccfs	p.VP107fs	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Frame_Shift_Ins_p.VP107fs			Q24JP5	T132A_HUMAN	transmembrane protein 132A	107						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCCAGGTGGTCCCCCCTCGAG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.326dupC	11.37:g.60695123_60695123dupC	ENSP00000405823:p.Val107fs		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Frame_Shift_Ins	INS	NULL	p.R110fs	ENST00000453848.2	37	c.320_321	CCDS44618.1	11																																																																																			TMEM132A	-	NULL	ENSG00000006118		0.604	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	25	0.00	0	-	NM_017870		60695117	60695118	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.997:0.924	C
TMEM132B	114795	genome.wustl.edu	37	12	125834575	125834576	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr12:125834575_125834576insG	ENST00000299308.3	+	2	638_639	c.630_631insG	c.(631-633)gggfs	p.G211fs		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	211						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGCCCTGCTCGGGGGCACCAC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.635dupG	12.37:g.125834580_125834580dupG	ENSP00000299308:p.Gly211fs		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Frame_Shift_Ins	INS	NULL	p.T212fs	ENST00000299308.3	37	c.630_631	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.624	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	17	0.00	0	-	NM_052907		125834575	125834576	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.964:0.995	G
TRIP12	9320	genome.wustl.edu	37	2	230679028	230679028	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:230679028T>A	ENST00000283943.5	-	11	1779	c.1601A>T	c.(1600-1602)cAg>cTg	p.Q534L	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q237L|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q582L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	534					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCAATACACTGAATAACTTG	0.383																																						dbGAP											0													111.0	108.0	109.0					2																	230679028		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1601A>T	2.37:g.230679028T>A	ENSP00000283943:p.Gln534Leu		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.Q534L	ENST00000283943.5	37	c.1601	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833685	0.71258	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.36157	1.27;1.27;1.27	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.112647	0.64402	D	0.000007	T	0.61048	0.2316	M	0.78637	2.42	0.80722	D	1	D;P;P;P	0.54601	0.967;0.851;0.851;0.851	D;P;P;P	0.65140	0.932;0.838;0.838;0.838	T	0.65631	-0.6121	10	0.87932	D	0	.	16.1659	0.81754	0.0:0.0:0.0:1.0	.	540;237;582;534	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	L	534;237;582	ENSP00000283943:Q534L;ENSP00000373697:Q237L;ENSP00000373696:Q582L	ENSP00000283943:Q534L	Q	-	2	0	TRIP12	230387272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.221000	0.72209	0.456000	0.33151	CAG	TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.383	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	44	0.00	0	T	NM_004238		230679028	230679028	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
TSC22D1	8848	genome.wustl.edu	37	13	45008837	45008838	+	Frame_Shift_Ins	INS	-	-	G	rs372349466		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr13:45008837_45008838insG	ENST00000458659.2	-	3	3636_3637	c.3146_3147insC	c.(3145-3147)cctfs	p.P1049fs	TSC22D1_ENST00000261489.2_Frame_Shift_Ins_p.P120fs|TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1049					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1049P(2)|p.P120P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGTGGTGGCAGGGGGGGAGCC	0.639																																						dbGAP											4	Substitution - coding silent(4)	prostate(2)|kidney(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3147dupC	13.37:g.45008844_45008844dupG	ENSP00000397435:p.Pro1049fs		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Ins	INS	pfam_TSC-22_Dip_Bun	p.A1050fs	ENST00000458659.2	37	c.3147_3146	CCDS31966.1	13																																																																																			TSC22D1	-	NULL	ENSG00000102804		0.639	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	18	0.00	0	-	NM_006022		45008837	45008838	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	frame_shift_ins	33	15.38	6	INS	0.997:1.000	G
TUBGCP6	85378	genome.wustl.edu	37	22	50664338	50664339	+	Frame_Shift_Ins	INS	-	-	G	rs141834192		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr22:50664338_50664339insG	ENST00000248846.5	-	10	1971_1972	c.1867_1868insC	c.(1867-1869)cggfs	p.R623fs	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Frame_Shift_Ins_p.R623fs			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	623					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCGAGATCCGGGGGACAGGG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1868dupC	22.37:g.50664343_50664343dupG	ENSP00000248846:p.Arg623fs		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Frame_Shift_Ins	INS	pfam_Spc97_Spc98	p.R623fs	ENST00000248846.5	37	c.1868_1867	CCDS14087.1	22																																																																																			TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.599	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	34	0.00	0	-	NM_020461		50664338	50664339	-1	no_errors	ENST00000248846	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.996:0.996	G
TYK2	7297	genome.wustl.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G	rs373614901		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccacgfs	p.T1106fs	TYK2_ENST00000264818.6_Frame_Shift_Ins_p.T1106fs|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.T921fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3316dupC	19.37:g.10463119_10463119dupG	ENSP00000431885:p.Thr1106fs		Q6QB10|Q96CH0	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.T1105fs	ENST00000525621.1	37	c.3316_3315	CCDS12236.1	19																																																																																			TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom	ENSG00000105397		0.599	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	29	0.00	0	-			10463112	10463113	-1	no_errors	ENST00000264818	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.001:0.001	G
USP54	159195	genome.wustl.edu	37	10	75290088	75290088	+	Silent	SNP	G	G	T			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr10:75290088G>T	ENST00000339859.4	-	13	1741	c.1641C>A	c.(1639-1641)acC>acA	p.T547T	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.T547T|USP54_ENST00000408019.1_Silent_p.T547T|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000428547.1_Silent_p.T397T|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	547					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.T547T(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTAAAGGCAGGGTCCTAGGAG	0.507																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											1	Substitution - coding silent(1)	lung(1)											138.0	130.0	132.0					10																	75290088		1904	4126	6030	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1641C>A	10.37:g.75290088G>T			A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	NULL	p.P345T	ENST00000339859.4	37	c.1033	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.507	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	97	0.00	0	G	NM_152586		75290088	75290088	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000424265	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	0.002	T
WDTC1	23038	genome.wustl.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																						dbGAP											0										21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				-	-	-	SO:0001589	frameshift_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.860_861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		24	0.00	0	-	NM_015023		27621107	27621108	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	frame_shift_ins	32	17.95	7	INS	1.000:1.000	G
ZBP1	81030	genome.wustl.edu	37	20	56186796	56186797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr20:56186796_56186797insG	ENST00000371173.3	-	6	1037_1038	c.860_861insC	c.(859-861)cctfs	p.P287fs	ZBP1_ENST00000343535.4_Frame_Shift_Ins_p.P287fs|ZBP1_ENST00000395822.3_Frame_Shift_Ins_p.P212fs|ZBP1_ENST00000340462.4_Frame_Shift_Ins_p.P264fs	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	287					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGGGGCTGCCAGGGGGGATGTG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.861dupC	20.37:g.56186802_56186802dupG	ENSP00000360215:p.Pro287fs		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Frame_Shift_Ins	INS	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.G288fs	ENST00000371173.3	37	c.861_860	CCDS13461.1	20																																																																																			ZBP1	-	NULL	ENSG00000124256		0.614	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	20	0.00	0	-	NM_030776		56186796	56186797	-1	no_errors	ENST00000343535	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.000:0.000	G
ZC3H12B	340554	genome.wustl.edu	37	X	64722292	64722293	+	Frame_Shift_Ins	INS	-	-	G	rs539936063		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chrX:64722292_64722293insG	ENST00000338957.4	+	5	1781_1782	c.1714_1715insG	c.(1714-1716)cggfs	p.R572fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.R561fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	572							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGTAGACCGGGGGGTGTAT	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1720dupG	X.37:g.64722298_64722298dupG	ENSP00000340839:p.Arg572fs		B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Ins	INS	pfam_RNase_Zc3h12	p.V574fs	ENST00000338957.4	37	c.1714_1715	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.470	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	28	0.00	0	-	XM_293334		64722292	64722293	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.985:0.018	G
ZC3H18	124245	genome.wustl.edu	37	16	88691140	88691141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr16:88691140_88691141insC	ENST00000301011.5	+	12	2229_2230	c.2029_2030insC	c.(2029-2031)accfs	p.T677fs	ZC3H18_ENST00000452588.2_Frame_Shift_Ins_p.T701fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	677	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663																																					Ovarian(121;375 2276 20373 38669)	dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2037dupC	16.37:g.88691148_88691148dupC	ENSP00000301011:p.Thr677fs		Q96DG4|Q96MP7	Frame_Shift_Ins	INS	smart_Znf_CCCH	p.R680fs	ENST00000301011.5	37	c.2029_2030	CCDS10967.1	16																																																																																			ZC3H18	-	NULL	ENSG00000158545		0.663	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	28	0.00	0	-	NM_144604		88691140	88691141	+1	no_errors	ENST00000301011	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.978:0.568	C
ZFHX4	79776	genome.wustl.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403|rs13250763		TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.LG408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1230dupG	8.37:g.77617553_77617553dupG	ENSP00000430497:p.Leu408fs		G3V138|Q18PS0|Q6ZN20	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L411fs	ENST00000521891.2	37	c.1223_1224	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.535	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	24	0.00	0	-	NM_024721		77617546	77617547	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	frame_shift_ins	31	13.89	5	INS	1.000:1.000	G
ZSWIM2	151112	genome.wustl.edu	37	2	187702201	187702201	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NC-01A-12W-A16L-09	TCGA-E9-A1NC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ba4c398-b94b-49f8-bb88-9d0cb3347d2c	ebb77710-bd6f-435d-83c5-2600f9e422db	g.chr2:187702201A>G	ENST00000295131.2	-	5	614	c.575T>C	c.(574-576)tTg>tCg	p.L192S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	192					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGACATTTCAACATGGAAGT	0.353																																						dbGAP											0													93.0	93.0	93.0					2																	187702201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.575T>C	2.37:g.187702201A>G	ENSP00000295131:p.Leu192Ser		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.L192S	ENST00000295131.2	37	c.575	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131874	0.77662	.	.	ENSG00000163012	ENST00000295131	T	0.72942	-0.7	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.186883	0.26840	N	0.022224	T	0.75324	0.3834	M	0.76328	2.33	0.41683	D	0.989308	D	0.54397	0.966	P	0.47299	0.543	T	0.79836	-0.1635	10	0.72032	D	0.01	-1.1564	13.9615	0.64182	1.0:0.0:0.0:0.0	.	192	Q8NEG5	ZSWM2_HUMAN	S	192	ENSP00000295131:L192S	ENSP00000295131:L192S	L	-	2	0	ZSWIM2	187410446	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.756000	0.74919	2.287000	0.76781	0.482000	0.46254	TTG	ZSWIM2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000163012		0.353	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	61	0.00	0	A	NM_182521		187702201	187702201	-1	no_errors	ENST00000295131	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	1.000	G
