#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
ACSF3	197322	genome.wustl.edu	37	16	89211720	89211721	+	Frame_Shift_Del	DEL	GG	GG	-	rs387907119		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:89211720_89211721delGG	ENST00000317447.4	+	9	1789_1790	c.1412_1413delGG	c.(1411-1413)cggfs	p.R471fs	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Frame_Shift_Del_p.R471fs|ACSF3_ENST00000378345.4_Frame_Shift_Del_p.R206fs	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	471			R -> Q (in CMAMMA). {ECO:0000269|PubMed:21841779}.|R -> W (in CMAMMA; dbSNP:rs138680796). {ECO:0000269|PubMed:21841779}.		fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ATCCGAGGCCGGACCTCAGTGG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1412_1413delGG	16.37:g.89211720_89211721delGG	ENSP00000320646:p.Arg471fs		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.R471fs	ENST00000317447.4	37	c.1412_1413	CCDS10974.1	16																																																																																			ACSF3	-	pfam_AMP-dep_Synth/Lig	ENSG00000176715		0.609	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	384	0.00	0	GG	NM_174917		89211720	89211721	+1	no_errors	ENST00000317447	ensembl	human	known	69_37n	frame_shift_del	24	53.57	30	DEL	1.000:0.996	-
ADAM23	8745	genome.wustl.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	dbGAP											2	Insertion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		A2RU59	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K781fs	ENST00000264377.3	37	c.2333_2334	CCDS2369.1	2																																																																																			ADAM23	-	NULL	ENSG00000114948		0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	299	0.00	0	-	NM_003812		207460860	207460861	+1	no_errors	ENST00000264377	ensembl	human	known	69_37n	frame_shift_ins	162	10.00	18	INS	0.005:0.000	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	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_ENST00000380566.4_Frame_Shift_Ins_p.G376fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs	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	153	0.00	0	-			18680349	18680350	+1	no_errors	ENST00000327883	ensembl	human	known	69_37n	frame_shift_ins	36	14.29	6	INS	1.000:1.000	G
ADARB1	104	genome.wustl.edu	37	21	46604943	46604943	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr21:46604943C>T	ENST00000360697.3	+	7	1637	c.1622C>T	c.(1621-1623)aCg>aTg	p.T541M	ADARB1_ENST00000348831.4_Missense_Mutation_p.T501M|ADARB1_ENST00000539173.1_Missense_Mutation_p.T541M|ADARB1_ENST00000389863.4_Missense_Mutation_p.T541M|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	541	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AGCATCCAAACGTGGGACGGG	0.592																																						dbGAP											0													134.0	126.0	129.0					21																	46604943		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1622C>T	21.37:g.46604943C>T	ENSP00000353920:p.Thr541Met		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.T541M	ENST00000360697.3	37	c.1622	CCDS33589.1	21	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843674	0.91197	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.42	5.42	0.78866	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.72075	0.973;0.976;0.959;0.966	D	0.98621	1.0667	10	0.87932	D	0	-43.5925	17.0803	0.86597	0.0:1.0:0.0:0.0	.	541;501;529;541	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	541;541;541;501;541	ENSP00000441897:T541M;ENSP00000374513:T541M;ENSP00000015877:T501M;ENSP00000353920:T541M	ENSP00000015877:T501M	T	+	2	0	ADARB1	45429371	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.459000	0.80802	2.712000	0.92718	0.563000	0.77884	ACG	ADARB1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000197381		0.592	ADARB1-004	KNOWN	basic|CCDS	protein_coding	ADARB1	HGNC	protein_coding	OTTHUMT00000206648.2	191	0.00	0	C	NM_015833		46604943	46604943	+1	no_errors	ENST00000360697	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	1.000	T
ADD1	118	genome.wustl.edu	37	4	2927786	2927786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr4:2927786delA	ENST00000398129.1	+	13	1828	c.1808delA	c.(1807-1809)gacfs	p.D603fs	ADD1_ENST00000398125.1_Frame_Shift_Del_p.D634fs|ADD1_ENST00000355842.3_Frame_Shift_Del_p.D634fs|ADD1_ENST00000446856.1_Frame_Shift_Del_p.D603fs|ADD1_ENST00000503455.2_Frame_Shift_Del_p.D634fs|ADD1_ENST00000264758.7_Frame_Shift_Del_p.D634fs|ADD1_ENST00000513328.2_Frame_Shift_Del_p.D603fs|ADD1_ENST00000398123.2_Frame_Shift_Del_p.D634fs			P35611	ADDA_HUMAN	adducin 1 (alpha)	603					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTCCTCCAGACCAGCCTGCG	0.612																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	dbGAP											0													59.0	65.0	63.0					4																	2927786		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1808delA	4.37:g.2927786delA	ENSP00000381197:p.Asp603fs		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Frame_Shift_Del	DEL	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D634fs	ENST00000398129.1	37	c.1901	CCDS43205.1	4																																																																																			ADD1	-	NULL	ENSG00000087274		0.612	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	122	0.00	0	A	NM_014189		2927786	2927786	+1	no_errors	ENST00000264758	ensembl	human	known	69_37n	frame_shift_del	25	42.55	20	DEL	0.999	-
ALMS1	7840	genome.wustl.edu	37	2	73677994	73677994	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:73677994A>G	ENST00000264448.6	+	8	4448	c.4337A>G	c.(4336-4338)cAt>cGt	p.H1446R	ALMS1_ENST00000409009.1_Missense_Mutation_p.H1404R|ALMS1_ENST00000377715.1_Missense_Mutation_p.H1446R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1446	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCACATAGTCATCTACCTGAA	0.498																																						dbGAP											0													119.0	120.0	120.0					2																	73677994		1885	4115	6000	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4337A>G	2.37:g.73677994A>G	ENSP00000264448:p.His1446Arg		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.H1446R	ENST00000264448.6	37	c.4337	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	6.918	0.538938	0.13250	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15834	3.3;3.3;2.39	4.19	-1.64	0.08318	.	1.068590	0.07360	N	0.883867	T	0.08358	0.0208	L	0.28192	0.835	0.09310	N	1	P;B;B	0.39352	0.669;0.218;0.218	B;B;B	0.38020	0.263;0.116;0.116	T	0.20371	-1.0277	10	0.10377	T	0.69	.	1.0115	0.01498	0.424:0.1637:0.095:0.3173	.	1446;1404;1446	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	R	1404;1446;1446	ENSP00000386627:H1404R;ENSP00000264448:H1446R;ENSP00000366944:H1446R	ENSP00000264448:H1446R	H	+	2	0	ALMS1	73531502	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.014000	0.13333	-0.252000	0.09528	0.482000	0.46254	CAT	ALMS1	-	NULL	ENSG00000116127		0.498	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	311	0.32	1	A	NM_015120		73677994	73677994	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	120	35.48	66	SNP	0.000	G
ATG16L2	89849	genome.wustl.edu	37	11	72535862	72535862	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:72535862T>C	ENST00000321297.5	+	9	1109	c.971T>C	c.(970-972)cTt>cCt	p.L324P	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	324					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GCTGCCCGACTTCCTACCCGG	0.602																																						dbGAP											0													71.0	60.0	64.0					11																	72535862		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.971T>C	11.37:g.72535862T>C	ENSP00000326340:p.Leu324Pro		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L324P	ENST00000321297.5	37	c.971	CCDS31634.1	11	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303191	0.23736	.	.	ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367	T;T;T	0.59083	0.43;0.4;0.29	4.82	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	135.341000	0.00166	N	0.000000	T	0.38295	0.1035	N	0.03608	-0.345	0.58432	D	0.999997	B;B;B	0.18166	0.003;0.0;0.026	B;B;B	0.18263	0.006;0.001;0.021	T	0.31916	-0.9926	10	0.51188	T	0.08	.	6.5173	0.22254	0.0:0.1147:0.0:0.8853	.	218;44;324	Q8NAA4-2;Q9H7Q5;Q8NAA4	.;.;A16L2_HUMAN	P	324;155;155	ENSP00000326340:L324P;ENSP00000441989:L155P;ENSP00000437412:L155P	ENSP00000326340:L324P	L	+	2	0	ATG16L2	72213510	0.066000	0.20996	0.708000	0.30435	0.359000	0.29487	1.498000	0.35660	0.862000	0.35528	0.454000	0.30748	CTT	ATG16L2	-	superfamily_WD40_repeat_dom	ENSG00000168010		0.602	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	204	0.00	0	T	NM_033388		72535862	72535862	+1	no_errors	ENST00000321297	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.843	C
ATP2A1	487	genome.wustl.edu	37	16	28913639	28913640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:28913639_28913640insC	ENST00000357084.3	+	17	2723_2724	c.2456_2457insC	c.(2455-2460)cgccccfs	p.RP819fs	ATP2A1_ENST00000395503.4_Frame_Shift_Ins_p.RP819fs|ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.RP694fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	819					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2464dupC	16.37:g.28913647_28913647dupC	ENSP00000349595:p.Arg819fs		A8K5J9|B3KY17|O14984	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R822fs	ENST00000357084.3	37	c.2456_2457	CCDS10643.1	16																																																																																			ATP2A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.658	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	80	0.00	0	-	NM_004320		28913639	28913640	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	frame_shift_ins	68	11.69	9	INS	0.996:0.957	C
BCL7C	9274	genome.wustl.edu	37	16	30899222	30899223	+	Frame_Shift_Ins	INS	-	-	G	rs150838242		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:30899222_30899223insG	ENST00000215115.4	-	6	1632_1633	c.617_618insC	c.(616-618)ccafs	p.P206fs	MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TGCGCTTGAGTGGGGGGGCACC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.618dupC	16.37:g.30899229_30899229dupG	ENSP00000215115:p.Pro206fs		O43770|Q6PD89	Frame_Shift_Ins	INS	pfam_BCL7	p.L207fs	ENST00000215115.4	37	c.618_617	CCDS10693.1	16																																																																																			BCL7C	-	NULL	ENSG00000099385		0.619	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255547.3	36	0.00	0	-	NM_004765		30899222	30899223	-1	no_errors	ENST00000215115	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	G
BLZF1	8548	genome.wustl.edu	37	1	169347609	169347609	+	Silent	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:169347609G>T	ENST00000367808.3	+	4	933	c.510G>T	c.(508-510)ggG>ggT	p.G170G	BLZF1_ENST00000329281.2_Silent_p.G170G			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	170					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CTTCTGTTGGGGATGATCTTC	0.373																																						dbGAP											0													149.0	148.0	148.0					1																	169347609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.510G>T	1.37:g.169347609G>T			O15298|Q5T531|Q5T533|Q9GZX4	Silent	SNP	pfam_DUF1721_fun	p.G170	ENST00000367808.3	37	c.510	CCDS1278.1	1																																																																																			BLZF1	-	NULL	ENSG00000117475		0.373	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	HGNC	protein_coding	OTTHUMT00000086109.1	494	0.00	0	G	NM_003666		169347609	169347609	+1	no_errors	ENST00000329281	ensembl	human	known	69_37n	silent	231	17.73	50	SNP	0.958	T
BPIFB4	149954	genome.wustl.edu	37	20	31671213	31671214	+	Frame_Shift_Ins	INS	-	-	C	rs139974951|rs541992483	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:31671213_31671214insC	ENST00000375483.3	+	3	210_211	c.210_211insC	c.(211-213)cccfs	p.P71fs		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	71						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V35fs*9(1)									ATGTCCGAGGACCCCCCCCAGT	0.495													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	3	0.000599042	0.0015	0.0014	5008	,	,		12507	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.218dupC	20.37:g.31671221_31671221dupC	ENSP00000364632:p.Pro71fs		Q5TDX6	Frame_Shift_Ins	INS	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.V73fs	ENST00000375483.3	37	c.210_211	CCDS13213.2	20																																																																																			BPIFB4	-	NULL	ENSG00000186191		0.495	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	131	0.00	0	-	NM_182519		31671213	31671214	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	frame_shift_ins	44	12.00	6	INS	0.020:0.030	C
C12orf42	374470	genome.wustl.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G	rs182234129|rs185386009		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr12:103695959_103695960insG	ENST00000378113.2	-	6	1234_1235	c.1009_1010insC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Ins_p.R270fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1010dupC	12.37:g.103695966_103695966dupG	ENSP00000367353:p.Arg337fs		Q49A64|Q4G0S2	Frame_Shift_Ins	INS	NULL	p.R337fs	ENST00000378113.2	37	c.1010_1009	CCDS44963.1	12																																																																																			C12orf42	-	NULL	ENSG00000179088		0.584	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	44	0.00	0	-	NM_198521		103695959	103695960	-1	no_errors	ENST00000378113	ensembl	human	known	69_37n	frame_shift_ins	59	13.24	9	INS	0.034:0.030	G
C1QTNF5	114902	genome.wustl.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C	rs369839371		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:119210189_119210190insC	ENST00000528368.1	-	3	814_815	c.583_584insG	c.(583-585)gccfs	p.A195fs	MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000445041.2_Frame_Shift_Ins_p.A195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.584dupG	11.37:g.119210197_119210197dupC	ENSP00000431140:p.Ala195fs		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Ins	INS	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.A195fs	ENST00000528368.1	37	c.584_583	CCDS8420.1	11																																																																																			C1QTNF5	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	ENSG00000223953		0.589	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF5	HGNC	protein_coding	OTTHUMT00000388354.1	200	0.50	1	-	NM_015645		119210189	119210190	-1	no_errors	ENST00000445041	ensembl	human	known	69_37n	frame_shift_ins	94	10.48	11	INS	1.000:0.976	C
CCDC108	255101	genome.wustl.edu	37	2	219895498	219895498	+	Silent	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:219895498G>A	ENST00000341552.5	-	9	1157	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	CCDC108_ENST00000441968.1_Silent_p.A358A|CCDC108_ENST00000409865.3_Silent_p.A347A|CCDC108_ENST00000410037.1_Silent_p.A293A|CCDC108_ENST00000453220.1_Silent_p.A358A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	358						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCCCTCGGCATCCTGGT	0.632																																						dbGAP											0													71.0	70.0	71.0					2																	219895498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1074C>T	2.37:g.219895498G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.A358	ENST00000341552.5	37	c.1074	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.632	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	159	0.00	0	G	NM_194302		219895498	219895498	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	silent	24	58.62	34	SNP	0.000	A
CCDC144A	9720	genome.wustl.edu	37	17	16665677	16665677	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr17:16665677T>A	ENST00000360524.8	+	14	3793	c.3717T>A	c.(3715-3717)aaT>aaA	p.N1239K	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N1239K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.N1005K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N1239K|CCDC144A_ENST00000443444.2_Missense_Mutation_p.N1239K	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1239																	GGGAGGATAATACTACTTCAA	0.308																																						dbGAP											0													17.0	19.0	18.0					17																	16665677		1787	4056	5843	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3717T>A	17.37:g.16665677T>A	ENSP00000353717:p.Asn1239Lys		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.N1239K	ENST00000360524.8	37	c.3717	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.005|0.005	-2.139309|-2.139309	0.00335|0.00335	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	.|T;T;T;T	.|0.02446	.|4.3;4.29;4.29;4.3	2.1|2.1	-1.26|-1.26	0.09376|0.09376	.|.	.|.	.|.	.|.	.|.	T|T	0.03390|0.03390	0.0098|0.0098	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B	.|0.24823	.|0.112;0.0	.|B;B	.|0.24394	.|0.053;0.001	T|T	0.41161|0.41161	-0.9524|-0.9524	5|8	.|.	.|.	.|.	.|.	6.0815|6.0815	0.19944|0.19944	0.0:0.4624:0.0:0.5376|0.0:0.4624:0.0:0.5376	.|.	.|1005;1239	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	K|K	769|1239;1239;1239;1005	.|ENSP00000382215:N1239K;ENSP00000439262:N1239K;ENSP00000353717:N1239K;ENSP00000394201:N1005K	.|.	I|N	+|+	2|3	0|2	CCDC144A|CCDC144A	16606402|16606402	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.248000|0.248000	0.25809|0.25809	0.108000|0.108000	0.15396|0.15396	-0.165000|-0.165000	0.10908|0.10908	0.155000|0.155000	0.16302|0.16302	ATA|AAT	CCDC144A	-	NULL	ENSG00000170160		0.308	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	347	0.00	0	T			16665677	16665677	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	0.678	A
CCDC17	149483	genome.wustl.edu	37	1	46086407	46086408	+	Frame_Shift_Ins	INS	-	-	A	rs143313832	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:46086407_46086408insA	ENST00000528266.1	-	12	1844_1845	c.1697_1698insT	c.(1696-1698)cagfs	p.Q566fs	CCDC17_ENST00000421127.2_Frame_Shift_Ins_p.Q557fs|CCDC17_ENST00000343901.2_Frame_Shift_Ins_p.Q534fs|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	566										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					GAGGTGGGTACTGGTACTCATG	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1697_1698insT	1.37:g.46086407_46086408insA	ENSP00000432172:p.Gln566fs		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Frame_Shift_Ins	INS	NULL	p.Q534fs	ENST00000528266.1	37	c.1602_1601	CCDS44131.2	1																																																																																			CCDC17	-	NULL	ENSG00000159588		0.564	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	244	0.00	0	-	NM_152500		46086407	46086408	-1	no_errors	ENST00000343901	ensembl	human	known	69_37n	frame_shift_ins	66	42.11	48	INS	0.991:0.994	A
CIC	23152	genome.wustl.edu	37	19	42796882	42796883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:42796882_42796883insC	ENST00000575354.2	+	14	3380_3381	c.3340_3341insC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3347dupC	19.37:g.42796889_42796889dupC	ENSP00000458663:p.Ala1114fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S1117fs	ENST00000575354.2	37	c.3340_3341	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	106	0.00	0	-			42796882	42796883	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	1.000:0.993	C
CPNE4	131034	genome.wustl.edu	37	3	131388574	131388574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:131388574G>T	ENST00000512055.1	-	11	2752	c.626C>A	c.(625-627)tCa>tAa	p.S209*	CPNE4_ENST00000429747.1_Nonsense_Mutation_p.S209*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.S209*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.S227*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.S227*			Q96A23	CPNE4_HUMAN	copine IV	209	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TACTTTGAATGATTTCCAGGC	0.408																																						dbGAP											0													82.0	90.0	88.0					3																	131388574		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.626C>A	3.37:g.131388574G>T	ENSP00000421705:p.Ser209*		D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.S227*	ENST00000512055.1	37	c.680	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.702469	0.98441	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.66	5.66	0.87406	.	0.244950	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.4979	16.6772	0.85282	0.0:0.0:1.0:0.0	.	.	.	.	X	209;209;227;209;227	.	ENSP00000411904:S209X	S	-	2	0	CPNE4	132871264	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.211000	0.77933	2.675000	0.91044	0.655000	0.94253	TCA	CPNE4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000196353		0.408	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	176	0.00	0	G	NM_130808		131388574	131388574	-1	no_errors	ENST00000502818	ensembl	human	known	69_37n	nonsense	108	28.48	43	SNP	1.000	T
CLDN11	5010	genome.wustl.edu	37	3	170136900	170136900	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:170136900G>A	ENST00000064724.3	+	1	248	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	RP11-469J4.3_ENST00000468232.1_lincRNA|CLDN11_ENST00000486975.1_Missense_Mutation_p.V16M|CLDN11_ENST00000451576.1_Missense_Mutation_p.V16M	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	16					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CACGAGCTTCGTGGGCTGGAT	0.677																																						dbGAP											0													39.0	37.0	38.0					3																	170136900		2146	4155	6301	-	-	-	SO:0001583	missense	0			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.46G>A	3.37:g.170136900G>A	ENSP00000064724:p.Val16Met		B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin11,prints_Claudin	p.V16M	ENST00000064724.3	37	c.46	CCDS3213.1	3	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518831	0.64634	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.89343	-2.5;-2.5;-2.5	5.15	4.26	0.50523	.	0.138959	0.51477	D	0.000096	D	0.90215	0.6941	M	0.63843	1.955	0.31123	N	0.70866	D;P	0.64830	0.994;0.786	P;B	0.56398	0.797;0.418	D	0.88642	0.3176	10	0.59425	D	0.04	.	7.5407	0.27737	0.1454:0.1391:0.7155:0.0	.	16;16	B4DFI2;O75508	.;CLD11_HUMAN	M	16	ENSP00000064724:V16M;ENSP00000417434:V16M;ENSP00000410185:V16M	ENSP00000064724:V16M	V	+	1	0	CLDN11	171619594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.843000	0.39259	1.148000	0.42385	0.557000	0.71058	GTG	CLDN11	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000013297		0.677	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN11	HGNC	protein_coding	OTTHUMT00000352403.1	51	0.00	0	G	NM_005602		170136900	170136900	+1	no_errors	ENST00000064724	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	A
CRABP1	1381	genome.wustl.edu	37	15	78633562	78633562	+	Splice_Site	SNP	G	G	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr15:78633562G>C	ENST00000299529.6	+	2	353	c.248G>C	c.(247-249)aGg>aCg	p.R83T		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	83					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	CGCAAGTGCAGGGTGAGGCCC	0.617																																					Ovarian(146;578 3231 38536)	dbGAP											0													57.0	40.0	46.0					15																	78633562		2196	4292	6488	-	-	-	SO:0001630	splice_region_variant	0				CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.249+1G>C	15.37:g.78633562G>C			Q6IAY7|Q8WTV5	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.R83T	ENST00000299529.6	37	c.248	CCDS10301.1	15	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607919	0.46527	.	.	ENSG00000166426	ENST00000299529	T	0.08102	3.13	5.11	4.2	0.49525	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.092366	0.85682	D	0.000000	T	0.04407	0.0121	N	0.04959	-0.14	0.52099	D	0.999945	B	0.06786	0.001	B	0.08055	0.003	T	0.36915	-0.9728	10	0.54805	T	0.06	.	8.9199	0.35605	0.168:0.0:0.832:0.0	.	83	P29762	RABP1_HUMAN	T	83	ENSP00000299529:R83T	ENSP00000299529:R83T	R	+	2	0	CRABP1	76420617	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.750000	0.47500	1.140000	0.42260	0.655000	0.94253	AGG	CRABP1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000166426		0.617	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRABP1	HGNC	protein_coding	OTTHUMT00000290110.2	103	0.00	0	G	NM_004378	Missense_Mutation	78633562	78633562	+1	no_errors	ENST00000299529	ensembl	human	known	69_37n	missense	39	46.58	34	SNP	1.000	C
CRTC3	64784	genome.wustl.edu	37	15	91185257	91185258	+	Frame_Shift_Ins	INS	-	-	T	rs113166189	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr15:91185257_91185258insT	ENST00000268184.6	+	15	1749_1750	c.1745_1746insT	c.(1744-1749)gaagagfs	p.EE582fs	CRTC3_ENST00000420329.2_Frame_Shift_Ins_p.EE581fs|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	582					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCACTGGAAGAGGAGCTGC	0.559			T	MAML2	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		Exception_encountered	15.37:g.91185257_91185258insT	ENSP00000268184:p.Glu582fs		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Frame_Shift_Ins	INS	NULL	p.E582fs	ENST00000268184.6	37	c.1745_1746	CCDS32331.1	15																																																																																			CRTC3	-	NULL	ENSG00000140577		0.559	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	124	0.00	0	-	NM_022769		91185257	91185258	+1	no_errors	ENST00000268184	ensembl	human	known	69_37n	frame_shift_ins	36	50.68	37	INS	1.000:0.995	T
CSRP2BP	57325	genome.wustl.edu	37	20	18163939	18163940	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:18163939_18163940insT	ENST00000435364.3	+	8	2322_2323	c.1981_1982insT	c.(1981-1983)cctfs	p.P661fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Ins_p.P660fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Ins_p.P533fs	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	661	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTTTTTTTGGCCTGGTATGTTC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	Exception_encountered	20.37:g.18163939_18163940insT	ENSP00000392318:p.Pro661fs		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Ins	INS	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P661fs	ENST00000435364.3	37	c.1981_1982	CCDS13133.1	20																																																																																			CSRP2BP	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000149474		0.446	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	310	0.00	0	-	NM_020536		18163939	18163940	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	frame_shift_ins	194	80.98	826	INS	1.000:1.000	T
CSRP2BP	57325	genome.wustl.edu	37	20	18163944	18163945	+	Splice_Site	DEL	TA	TA	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:18163944_18163945delTA	ENST00000435364.3	+	8	2325		c.e8+2		CSRP2BP_ENST00000377681.3_Splice_Site|CSRP2BP_ENST00000489634.2_Splice_Site	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTGGCCTGGTATGTTCCCCCT	0.431																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1984+2TA>-	20.37:g.18163944_18163945delTA			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Splice_Site	DEL	-	e8+2	ENST00000435364.3	37	c.1984+2_1984+1	CCDS13133.1	20																																																																																			CSRP2BP	-	-	ENSG00000149474		0.431	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	306	0.00	0	TA	NM_020536	Intron	18163944	18163945	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	splice_site_del	179	80.82	767	DEL	1.000:1.000	-
CTNND2	1501	genome.wustl.edu	37	5	11022988	11022989	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:11022988_11022989GC>TT	ENST00000304623.8	-	17	3080_3081	c.2891_2892GC>AA	c.(2890-2892)tGC>tAA	p.C964*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.C531*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.C906*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.C873*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.C627*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	964					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGTGTGCAGCAGACAGCTGT	0.535																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2891_2892delinsTT	5.37:g.11022988_11022989delinsTT	ENSP00000307134:p.Cys964*		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.C964*|p.C964Y	ENST00000304623.8	37	c.2892|c.2891	CCDS3881.1	5																																																																																			CTNND2	-	superfamily_ARM-type_fold	ENSG00000169862		0.535	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	735|742	0.14|0.00	1|0	G|C	NM_001332		11022988|11022989	11022988|11022989	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	nonsense|missense	518	24.27|24.05	166|164	SNP	1.000	T
DCSTAMP	81501	genome.wustl.edu	37	8	105361068	105361069	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr8:105361068_105361069insG	ENST00000297581.2	+	2	337_338	c.288_289insG	c.(289-291)gctfs	p.A97fs	DCSTAMP_ENST00000517991.1_Frame_Shift_Ins_p.A97fs|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	97					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGGCAGGAATGCTTTGATTGC	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.289dupG	8.37:g.105361069_105361069dupG	ENSP00000297581:p.Ala97fs		B7ZVW2|E7ESG0|Q2M2D5	Frame_Shift_Ins	INS	pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1	p.A96fs	ENST00000297581.2	37	c.288_289	CCDS6301.1	8																																																																																			DCSTAMP	-	NULL	ENSG00000164935		0.450	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	337	0.00	0	-	NM_030788		105361068	105361069	+1	no_errors	ENST00000297581	ensembl	human	known	69_37n	frame_shift_ins	325	47.07	289	INS	0.331:0.895	G
DLX6	1750	genome.wustl.edu	37	7	96635577	96635577	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr7:96635577C>A	ENST00000518156.2	+	1	718	c.288C>A	c.(286-288)caC>caA	p.H96Q	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.H68Q|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					accaccaccacGGCTCGCCCT	0.706																																						dbGAP											0													8.0	14.0	12.0					7																	96635577		1886	3851	5737	-	-	-	SO:0001583	missense	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.288C>A	7.37:g.96635577C>A	ENSP00000428480:p.His96Gln		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain	p.H96Q	ENST00000518156.2	37	c.288	CCDS47647.2	7	.	.	.	.	.	.	.	.	.	.	c	13.33	2.205084	0.39003	.	.	ENSG00000006377	ENST00000518156;ENST00000007660	D;D	0.92199	-2.99;-2.94	2.93	2.02	0.26589	.	1.228880	0.06158	U	0.675509	D	0.87605	0.6219	.	.	.	0.49130	D	0.999753	B	0.20887	0.049	B	0.23419	0.046	T	0.72827	-0.4175	9	0.28530	T	0.3	-1.3001	9.5519	0.39315	0.0:0.8904:0.0:0.1096	.	68	P56179-2	.	Q	96;68	ENSP00000428480:H96Q;ENSP00000007660:H68Q	ENSP00000007660:H68Q	H	+	3	2	DLX6	96473513	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	2.494000	0.45329	0.549000	0.28973	0.556000	0.70494	CAC	DLX6	-	NULL	ENSG00000006377		0.706	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	21	0.00	0	C	NM_005222		96635577	96635577	+1	no_errors	ENST00000518156	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	A
EEA1	8411	genome.wustl.edu	37	12	93170706	93170706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr12:93170706G>A	ENST00000322349.8	-	28	4291	c.4027C>T	c.(4027-4029)Caa>Taa	p.Q1343*		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1343					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCAACGCTTGTGTATGTTTG	0.338																																						dbGAP											0													200.0	192.0	194.0					12																	93170706		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4027C>T	12.37:g.93170706G>A	ENSP00000317955:p.Gln1343*		Q14221	Nonsense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.Q1343*	ENST00000322349.8	37	c.4027	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.863040	0.99479	.	.	ENSG00000102189	ENST00000322349	.	.	.	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	.	.	.	X	1343	.	ENSP00000317955:Q1343X	Q	-	1	0	EEA1	91694837	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	9.827000	0.99397	2.560000	0.86352	0.650000	0.86243	CAA	EEA1	-	superfamily_Znf_FYVE_PHD	ENSG00000102189		0.338	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	810	0.12	1	G	NM_003566		93170706	93170706	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	nonsense	293	34.45	154	SNP	1.000	A
EIF2S3	1968	genome.wustl.edu	37	X	24082440	24082440	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chrX:24082440C>A	ENST00000253039.4	+	7	1013	c.760C>A	c.(760-762)Ccc>Acc	p.P254T		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	254					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TACTTCAGAGCCCCGGCTTAT	0.358																																						dbGAP											0													115.0	121.0	119.0					X																	24082440		2202	4298	6500	-	-	-	SO:0001583	missense	0			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.760C>A	X.37:g.24082440C>A	ENSP00000253039:p.Pro254Thr		B5BTZ4	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_ProtSyn_GTP-bd	p.P254T	ENST00000253039.4	37	c.760	CCDS14210.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255193	0.80135	.	.	ENSG00000130741	ENST00000253039	T	0.70631	-0.5	5.11	5.11	0.69529	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.95816	3.725	0.80722	D	1	P	0.50943	0.94	P	0.49301	0.606	D	0.89921	0.4059	10	0.72032	D	0.01	.	17.9593	0.89079	0.0:1.0:0.0:0.0	.	254	P41091	IF2G_HUMAN	T	254	ENSP00000253039:P254T	ENSP00000253039:P254T	P	+	1	0	EIF2S3	23992361	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.419000	0.80179	2.262000	0.75019	0.600000	0.82982	CCC	EIF2S3	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000130741		0.358	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	307	0.00	0	C	NM_001415		24082440	24082440	+1	no_errors	ENST00000253039	ensembl	human	known	69_37n	missense	129	28.33	51	SNP	1.000	A
EN1	2019	genome.wustl.edu	37	2	119600568	119600568	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:119600568C>A	ENST00000295206.6	-	2	1635	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	375					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGTACAGTCCCTGGGCCATGA	0.647																																						dbGAP											0													66.0	58.0	61.0					2																	119600568		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1125G>T	2.37:g.119600568C>A	ENSP00000295206:p.Gln375His		Q4ZG44	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.Q375H	ENST00000295206.6	37	c.1125	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535852	0.64972	.	.	ENSG00000163064	ENST00000295206	D	0.92249	-3.0	5.13	4.24	0.50183	Homeobox engrailed (1);Homeobox engrailed-type, conserved site (1);Homeodomain-like (1);Homeobox engrailed, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	M	0.83603	2.65	0.39923	D	0.974186	D	0.64830	0.994	D	0.77004	0.989	D	0.95684	0.8734	10	0.87932	D	0	-15.5179	9.9885	0.41856	0.0:0.8417:0.0:0.1583	.	375	Q05925	HME1_HUMAN	H	375	ENSP00000295206:Q375H	ENSP00000295206:Q375H	Q	-	3	2	EN1	119317038	0.947000	0.32204	1.000000	0.80357	0.998000	0.95712	0.106000	0.15354	2.374000	0.81015	0.555000	0.69702	CAG	EN1	-	pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,prints_Homeodomain_engrailed	ENSG00000163064		0.647	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3	149	0.00	0	C			119600568	119600568	-1	no_errors	ENST00000295206	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	1.000	A
ERLIN2	11160	genome.wustl.edu	37	8	37607966	37607967	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr8:37607966_37607967insG	ENST00000276461.5	+	9	678_679	c.611_612insG	c.(610-615)gaaaagfs	p.EK204fs	ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.EK204fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	204	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGGTGGTGGAAAAGGAAGCAG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	Exception_encountered	8.37:g.37607966_37607967insG	ENSP00000276461:p.Glu204fs		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Ins	INS	pfam_Band_7,smart_Band_7	p.E206fs	ENST00000276461.5	37	c.611_612	CCDS6095.1	8																																																																																			ERLIN2	-	pfam_Band_7	ENSG00000147475		0.525	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	294	0.00	0	-	NM_007175		37607966	37607967	+1	no_errors	ENST00000276461	ensembl	human	known	69_37n	frame_shift_ins	166	31.69	77	INS	1.000:0.996	G
ERLIN2	11160	genome.wustl.edu	37	8	37607972	37607972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr8:37607972delA	ENST00000276461.5	+	9	684	c.617delA	c.(616-618)gaafs	p.E206fs	ERLIN2_ENST00000519638.1_Frame_Shift_Del_p.E206fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	206	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGAAAAGGAAGCAGAGACA	0.517																																						dbGAP											0													110.0	93.0	99.0					8																	37607972		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.617delA	8.37:g.37607972delA	ENSP00000276461:p.Glu206fs		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Del	DEL	pfam_Band_7,smart_Band_7	p.A207fs	ENST00000276461.5	37	c.617	CCDS6095.1	8																																																																																			ERLIN2	-	pfam_Band_7	ENSG00000147475		0.517	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	294	0.00	0	A	NM_007175		37607972	37607972	+1	no_errors	ENST00000276461	ensembl	human	known	69_37n	frame_shift_del	164	31.67	76	DEL	1.000	-
ERLIN2	11160	genome.wustl.edu	37	8	37607975	37607976	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr8:37607975_37607976insA	ENST00000276461.5	+	9	687_688	c.620_621insA	c.(619-624)gcagagfs	p.E208fs	ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.E208fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	208	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAAAGGAAGCAGAGACAGAGC	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.621dupA	8.37:g.37607976_37607976dupA	ENSP00000276461:p.Glu208fs		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Ins	INS	pfam_Band_7,smart_Band_7	p.E208fs	ENST00000276461.5	37	c.620_621	CCDS6095.1	8																																																																																			ERLIN2	-	NULL	ENSG00000147475		0.520	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	293	0.00	0	-	NM_007175		37607975	37607976	+1	no_errors	ENST00000276461	ensembl	human	known	69_37n	frame_shift_ins	164	31.67	76	INS	1.000:0.000	A
NUTM2E	283008	genome.wustl.edu	37	10	81606669	81606670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:81606669_81606670insC	ENST00000429984.3	+	3	1549_1550	c.1166_1167insC	c.(1165-1170)cacacgfs	p.T390fs	NUTM2E_ENST00000602967.1_Frame_Shift_Ins_p.T390fs			B1AL46	NTM2E_HUMAN	NUT family member 2E	390																	GAATGGCAGCACACGAGCAACT	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					10q22.3	2013-03-14	2013-03-14	2013-03-14	ENSG00000228570	ENSG00000228570			23448	other	unknown			"""family with sequence similarity 22, member E"""	FAM22E			Standard	NG_012781		Approved			B1AL46	OTTHUMG00000018586	ENST00000429984.3:c.1167dupC	10.37:g.81606670_81606670dupC	ENSP00000407521:p.Thr390fs		A6NHL0	Frame_Shift_Ins	INS	NULL	p.T390fs	ENST00000429984.3	37	c.1166_1167		10																																																																																			FAM22E	-	NULL	ENSG00000228570		0.619	NUTM2E-201	KNOWN	basic|appris_principal	protein_coding	FAM22E	HGNC	protein_coding		45	0.00	0	-	NG_012781		81606669	81606670	+1	no_errors	ENST00000429984	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.012:0.014	C
TMEM255B	348013	genome.wustl.edu	37	13	114498127	114498127	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr13:114498127G>T	ENST00000375353.3	+	4	286	c.259G>T	c.(259-261)Gca>Tca	p.A87S		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	87						integral component of membrane (GO:0016021)											GCAGCTGGTGGCAGCGATCGT	0.542																																						dbGAP											0													114.0	92.0	99.0					13																	114498127		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.259G>T	13.37:g.114498127G>T	ENSP00000364502:p.Ala87Ser			Missense_Mutation	SNP	NULL	p.A87S	ENST00000375353.3	37	c.259	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503016	0.64298	.	.	ENSG00000184497	ENST00000375353;ENST00000375348	T;T	0.57907	0.37;0.37	4.06	4.06	0.47325	.	.	.	.	.	T	0.63780	0.2540	M	0.79011	2.435	0.80722	D	1	D	0.56746	0.977	P	0.50791	0.65	T	0.72541	-0.4262	9	0.87932	D	0	-19.3313	15.0297	0.71696	0.0:0.0:1.0:0.0	.	87	Q8WV15	FA70B_HUMAN	S	87;95	ENSP00000364502:A87S;ENSP00000364497:A95S	ENSP00000364497:A95S	A	+	1	0	FAM70B	113615816	1.000000	0.71417	0.982000	0.44146	0.170000	0.22686	6.227000	0.72282	1.806000	0.52798	0.394000	0.25966	GCA	FAM70B	-	NULL	ENSG00000184497		0.542	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM70B	HGNC	protein_coding	OTTHUMT00000045953.4	396	0.25	1	G	NM_182614		114498127	114498127	+1	no_errors	ENST00000375353	ensembl	human	known	69_37n	missense	288	36.40	166	SNP	1.000	T
FGF10	2255	genome.wustl.edu	37	5	44388528	44388528	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:44388528G>A	ENST00000264664.4	-	1	371	c.257C>T	c.(256-258)aCc>aTc	p.T86I	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	86					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AAAGTACTTGGTGAAAGAGAA	0.512																																						dbGAP											0													125.0	131.0	129.0					5																	44388528		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.257C>T	5.37:g.44388528G>A	ENSP00000264664:p.Thr86Ile		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.T86I	ENST00000264664.4	37	c.257	CCDS3950.1	5	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327507	0.60743	.	.	ENSG00000070193	ENST00000264664	D	0.82711	-1.64	5.14	5.14	0.70334	.	0.187474	0.46442	D	0.000285	D	0.88742	0.6519	M	0.77616	2.38	0.36498	D	0.868854	P	0.52692	0.955	P	0.60609	0.877	D	0.89093	0.3484	10	0.25106	T	0.35	.	13.2498	0.60045	0.0:0.0:0.7985:0.2015	.	86	O15520	FGF10_HUMAN	I	86	ENSP00000264664:T86I	ENSP00000264664:T86I	T	-	2	0	FGF10	44424285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.114000	0.64648	2.383000	0.81215	0.561000	0.74099	ACC	FGF10	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd	ENSG00000070193		0.512	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	HGNC	protein_coding	OTTHUMT00000253845.2	376	0.00	0	G	NM_004465		44388528	44388528	-1	no_errors	ENST00000264664	ensembl	human	known	69_37n	missense	362	20.39	93	SNP	1.000	A
FGF18	8817	genome.wustl.edu	37	5	170847438	170847438	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:170847438C>A	ENST00000274625.5	+	2	604	c.60C>A	c.(58-60)ttC>ttA	p.F20L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	20					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGTGCTTCCAGGTACAGG	0.662																																						dbGAP											0													138.0	132.0	134.0					5																	170847438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.60C>A	5.37:g.170847438C>A	ENSP00000274625:p.Phe20Leu		D3DQL7|Q6UWF1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.F20L	ENST00000274625.5	37	c.60	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872836	0.33069	.	.	ENSG00000156427	ENST00000274625	T	0.71103	-0.54	3.7	2.75	0.32379	.	0.594973	0.16069	N	0.231090	T	0.47728	0.1461	N	0.14661	0.345	0.33470	D	0.586055	B	0.02656	0.0	B	0.01281	0.0	T	0.49062	-0.8978	10	0.08837	T	0.75	-14.6376	9.9736	0.41770	0.2002:0.7998:0.0:0.0	.	20	O76093	FGF18_HUMAN	L	20	ENSP00000274625:F20L	ENSP00000274625:F20L	F	+	3	2	FGF18	170780043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.919000	0.28692	1.777000	0.52277	0.561000	0.74099	TTC	FGF18	-	NULL	ENSG00000156427		0.662	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	197	0.00	0	C	NM_033649, NM_003862		170847438	170847438	+1	no_errors	ENST00000274625	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	A
FIGNL1	63979	genome.wustl.edu	37	7	50514936	50514937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr7:50514936_50514937insC	ENST00000419119.1	-	2	1602_1603	c.49_50insG	c.(49-51)aatfs	p.N17fs	FIGNL1_ENST00000433017.1_Frame_Shift_Ins_p.N17fs|FIGNL1_ENST00000435566.1_Frame_Shift_Ins_p.N17fs|FIGNL1_ENST00000356889.4_Frame_Shift_Ins_p.N17fs|FIGNL1_ENST00000395556.2_Frame_Shift_Ins_p.N17fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	17					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCGAAGTAATTCTTCTGCCAT	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.49_50insG	7.37:g.50514936_50514937insC	ENSP00000410811:p.Asn17fs		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.N17fs	ENST00000419119.1	37	c.50_49	CCDS5510.1	7																																																																																			FIGNL1	-	NULL	ENSG00000132436		0.411	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	160	0.00	0	-	NM_001042762		50514936	50514937	-1	no_errors	ENST00000356889	ensembl	human	known	69_37n	frame_shift_ins	38	59.14	55	INS	1.000:1.000	C
FLNB	2317	genome.wustl.edu	37	3	58124245	58124245	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:58124245T>G	ENST00000295956.4	+	29	5263	c.5098T>G	c.(5098-5100)Ttc>Gtc	p.F1700V	FLNB_ENST00000357272.4_Missense_Mutation_p.F1700V|FLNB_ENST00000490882.1_Missense_Mutation_p.F1731V|FLNB_ENST00000419752.2_Missense_Mutation_p.F1531V|FLNB_ENST00000348383.5_Missense_Mutation_p.F1700V|FLNB_ENST00000429972.2_Missense_Mutation_p.F1700V|FLNB_ENST00000358537.3_Missense_Mutation_p.F1700V|FLNB_ENST00000493452.1_Missense_Mutation_p.F1531V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1700					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TAACAGCCCCTTCACTGTCAT	0.468																																						dbGAP											0													189.0	186.0	187.0					3																	58124245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5098T>G	3.37:g.58124245T>G	ENSP00000295956:p.Phe1700Val		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F1700V	ENST00000295956.4	37	c.5098	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	T	31	5.089502	0.94149	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	6.17	6.17	0.99709	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.89163	3.01	0.80722	D	1	P;D;D;D;D;D	0.89917	0.712;1.0;0.998;0.997;0.996;0.998	P;D;D;D;D;D	0.91635	0.493;0.999;0.997;0.994;0.997;0.997	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1700;1731;1531;1531;1700;1700	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1700;1731;1700;1700;1700;1700;1531;1531	ENSP00000295956:F1700V;ENSP00000420213:F1731V;ENSP00000351339:F1700V;ENSP00000415599:F1700V;ENSP00000232447:F1700V;ENSP00000349819:F1700V;ENSP00000418510:F1531V;ENSP00000414532:F1531V	ENSP00000295956:F1700V	F	+	1	0	FLNB	58099285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.468	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	99	0.00	0	T	NM_001457		58124245	58124245	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	G
FNDC4	64838	genome.wustl.edu	37	2	27717516	27717517	+	Frame_Shift_Ins	INS	-	-	G	rs375116041		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:27717516_27717517insG	ENST00000264703.3	-	2	421_422	c.30_31insC	c.(28-33)cccagcfs	p.S11fs	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGGAGTCCGCTGGGGGGGGAAC	0.649																																						dbGAP											1	Insertion - Frameshift(1)	liver(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.31dupC	2.37:g.27717524_27717524dupG	ENSP00000264703:p.Ser11fs		D6W560	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S10fs	ENST00000264703.3	37	c.31_30	CCDS1756.1	2																																																																																			FNDC4	-	NULL	ENSG00000115226		0.649	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC4	HGNC	protein_coding	OTTHUMT00000215031.1	64	0.00	0	-	NM_022823		27717516	27717517	-1	no_errors	ENST00000264703	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	0.989:0.915	G
FNDC9	408263	genome.wustl.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	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			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.636dupG	5.37:g.156769916_156769916dupC	ENSP00000310594:p.Gly212fs	1781	A8K0Y6	Frame_Shift_Ins	INS	superfamily_Fibronectin_type3	p.G213fs	ENST00000312349.4	37	c.636_635	CCDS4337.1	5																																																																																			FNDC9	-	NULL	ENSG00000172568		0.584	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC9	HGNC	protein_coding	OTTHUMT00000252573.2	66	0.00	0	-	NM_001001343		156769909	156769910	-1	no_errors	ENST00000312349	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.000:0.000	C
FRG1B	284802	genome.wustl.edu	37	20	29611972	29611972	+	5'UTR	DEL	T	T	-	rs73611713		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:29611972delT	ENST00000278882.3	+	0	116				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR|FRG1B_ENST00000468180.2_3'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTTCCTCCCTGCCCTGGTGC	0.577																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-265T>-	20.37:g.29611972delT			C4AME5	RNA	DEL	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.577	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	33	0.00	0	T	NR_003579		29611972	29611972	+1	no_errors	ENST00000468180	ensembl	human	known	69_37n	rna	9	13.33	2	DEL	0.000	-
FRRS1	391059	genome.wustl.edu	37	1	100195231	100195231	+	Frame_Shift_Del	DEL	C	C	-	rs112965495		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:100195231delC	ENST00000414213.1	-	8	1434	c.833delG	c.(832-834)cgafs	p.R278fs	FRRS1_ENST00000287474.5_Frame_Shift_Del_p.R278fs			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	278	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGGGTGACTTCGCCCCGTTAA	0.478																																						dbGAP											0													55.0	53.0	54.0					1																	100195231		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.833delG	1.37:g.100195231delC	ENSP00000393884:p.Arg278fs		A6NLN7	Frame_Shift_Del	DEL	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R278fs	ENST00000414213.1	37	c.833		1																																																																																			FRRS1	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain	ENSG00000156869		0.478	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		172	0.00	0	C	NM_001013660		100195231	100195231	-1	no_errors	ENST00000287474	ensembl	human	known	69_37n	frame_shift_del	47	33.77	26	DEL	1.000	-
FSCN2	25794	genome.wustl.edu	37	17	79496124	79496125	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr17:79496124_79496125TG>CC	ENST00000417245.2	+	1	703_704	c.567_568TG>CC	c.(565-570)tgTGac>tgCCac	p.D190H	RP13-766D20.2_ENST00000442532.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.D190H|RP13-766D20.2_ENST00000430912.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	190					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGTCCTGTGACAGCCGCTA	0.673																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	Exception_encountered	17.37:g.79496124_79496125delinsCC	ENSP00000388716:p.Asp190His		A0AVC4|A8MRA6	Silent|Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.C189|p.D190H	ENST00000417245.2	37	c.567|c.568	CCDS45811.1	17																																																																																			FSCN2	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000186765		0.673	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	15|16	0.00	0	T|G	NM_012418		79496124|79496125	79496124|79496125	+1	no_errors	ENST00000334850	ensembl	human	known	69_37n	silent|missense	0	100.00	32|35	SNP	0.831|1.000	C
GATA3	2625	genome.wustl.edu	37	10	8115952	8115953	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:8115952_8115953insCC	ENST00000346208.3	+	6	1753_1754	c.1298_1299insCC	c.(1297-1302)caccacfs	p.H434fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.H435fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	434					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TTTGGACCACACCACCCCTCCA	0.624			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1299_1300dupCC	10.37:g.8115953_8115954dupCC	ENSP00000341619:p.His434fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.H435fs	ENST00000346208.3	37	c.1301_1302	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.624	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	217	0.00	0	-	NM_001002295		8115952	8115953	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	90	29.69	38	INS	1.000:0.946	CC
GCDH	2639	genome.wustl.edu	37	19	13002750	13002750	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:13002750G>C	ENST00000222214.5	+	4	444	c.233G>C	c.(232-234)aGa>aCa	p.R78T	GCDH_ENST00000422947.2_Missense_Mutation_p.D16H|GCDH_ENST00000591470.1_Missense_Mutation_p.R78T|GCDH_ENST00000457854.1_Missense_Mutation_p.R78T			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	78					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	TGCCAGGAGAGACTCATGCCT	0.632																																					GBM(123;875 1636 7726 16444 26754)	dbGAP											0													84.0	65.0	72.0					19																	13002750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.233G>C	19.37:g.13002750G>C	ENSP00000222214:p.Arg78Thr		A8K2Z2|O14719	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.R78T	ENST00000222214.5	37	c.233	CCDS12286.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178174|3.178174	0.57692|0.57692	.|.	.|.	ENSG00000105607|ENSG00000105607	ENST00000422947|ENST00000457854;ENST00000222214;ENST00000421816	D|D;D	0.96774|0.99724	-4.12|-6.54;-6.54	5.17|5.17	1.61|1.61	0.23674|0.23674	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|0.109687	.|0.64402	.|D	.|0.000020	D|D	0.98570|0.98570	0.9522|0.9522	M|M	0.63843|0.63843	1.955|1.955	0.21841|0.21841	N|N	0.999514|0.999514	P|B;B;B	0.38863|0.22983	0.65|0.032;0.078;0.064	B|B;B;B	0.29353|0.21546	0.101|0.028;0.035;0.033	D|D	0.99924|0.99924	1.1274|1.1274	9|10	0.87932|0.87932	D|D	0|0	.|.	5.5172|5.5172	0.16914|0.16914	0.4842:0.0:0.5158:0.0|0.4842:0.0:0.5158:0.0	.|.	16|66;78;78	B4DK85|B4DQF2;Q92947;Q92947-2	.|.;GCDH_HUMAN;.	H|T	16|78;78;66	ENSP00000394821:D16H|ENSP00000394872:R78T;ENSP00000222214:R78T	ENSP00000394821:D16H|ENSP00000222214:R78T	D|R	+|+	1|2	0|0	GCDH|GCDH	12863750|12863750	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.940000|0.940000	0.58332|0.58332	3.459000|3.459000	0.53021|0.53021	0.591000|0.591000	0.29711|0.29711	-0.369000|-0.369000	0.07265|0.07265	GAC|AGA	GCDH	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000105607		0.632	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	154	0.00	0	G			13002750	13002750	+1	no_errors	ENST00000222214	ensembl	human	known	69_37n	missense	114	37.02	67	SNP	0.999	C
GNAZ	2781	genome.wustl.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs		B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.Q205fs	ENST00000248996.4	37	c.605_606	CCDS13804.1	22																																																																																			GNAZ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000128266		0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	276	0.00	0	-	NM_002073		23438487	23438488	+1	no_errors	ENST00000248996	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	G
GPR110	266977	genome.wustl.edu	37	6	46976980	46976980	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr6:46976980C>A	ENST00000371253.2	-	11	2406	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	GPR110_ENST00000283297.5_Missense_Mutation_p.D534Y|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	731					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAACACACATCTTTCCTTTTG	0.473																																						dbGAP											0													98.0	97.0	98.0					6																	46976980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2191G>T	6.37:g.46976980C>A	ENSP00000360299:p.Asp731Tyr		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.D731Y	ENST00000371253.2	37	c.2191	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307885	0.23821	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.45668	0.89;0.89	5.9	5.02	0.67125	GPCR, family 2-like (1);	0.189833	0.37053	N	0.002272	T	0.47801	0.1465	M	0.74881	2.28	0.19575	N	0.999962	D	0.67145	0.996	P	0.62649	0.905	T	0.49485	-0.8935	10	0.66056	D	0.02	-10.8945	11.4791	0.50316	0.0:0.8615:0.0:0.1385	.	731	Q5T601	GP110_HUMAN	Y	731;534	ENSP00000360299:D731Y;ENSP00000283297:D534Y	ENSP00000283297:D534Y	D	-	1	0	GPR110	47084939	0.005000	0.15991	0.021000	0.16686	0.155000	0.21991	1.730000	0.38125	1.468000	0.48064	0.650000	0.86243	GAT	GPR110	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153292		0.473	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	378	0.00	0	C	NM_153840		46976980	46976980	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	missense	134	35.27	73	SNP	0.080	A
INO80E	283899	genome.wustl.edu	37	16	30016652	30016653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:30016652_30016653insC	ENST00000563197.1	+	7	1641_1642	c.624_625insC	c.(625-627)cccfs	p.P209fs	INO80E_ENST00000567705.1_Frame_Shift_Ins_p.P192fs|INO80E_ENST00000304516.7_Frame_Shift_Ins_p.P170fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	209	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCCTAAGATGCCCCCCCCCAC	0.673																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.633dupC	16.37:g.30016661_30016661dupC	ENSP00000457016:p.Pro209fs		Q6Y2K3	Frame_Shift_Ins	INS	NULL	p.T211fs	ENST00000563197.1	37	c.624_625	CCDS10665.1	16																																																																																			INO80E	-	NULL	ENSG00000169592		0.673	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80E	HGNC	protein_coding	OTTHUMT00000255156.2	14	0.00	0	-	NM_173618		30016652	30016653	+1	no_errors	ENST00000563197	ensembl	human	known	69_37n	frame_shift_ins	8	33.33	4	INS	1.000:1.000	C
HEATR3	55027	genome.wustl.edu	37	16	50136311	50136311	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:50136311G>C	ENST00000299192.7	+	14	2076	c.1885G>C	c.(1885-1887)Gct>Cct	p.A629P	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.A543P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	629										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATTATTATCTGCTCTGAAAGA	0.393																																						dbGAP											0													74.0	79.0	77.0					16																	50136311		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1885G>C	16.37:g.50136311G>C	ENSP00000299192:p.Ala629Pro		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A629P	ENST00000299192.7	37	c.1885	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388848	0.42308	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.48836	0.8;0.81	5.39	2.27	0.28462	.	0.210931	0.49305	D	0.000155	T	0.40473	0.1118	L	0.51422	1.61	0.36091	D	0.843467	P;P	0.41569	0.755;0.612	B;B	0.41088	0.347;0.203	T	0.42749	-0.9433	10	0.26408	T	0.33	.	10.5672	0.45179	0.2676:0.0:0.7324:0.0	.	543;629	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	P	543;629	ENSP00000285767:A543P;ENSP00000299192:A629P	ENSP00000285767:A543P	A	+	1	0	HEATR3	48693812	0.963000	0.33076	0.948000	0.38648	0.880000	0.50808	0.852000	0.27764	0.311000	0.23014	-0.312000	0.09012	GCT	HEATR3	-	NULL	ENSG00000155393		0.393	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	298	0.00	0	G	NM_182922		50136311	50136311	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	missense	109	42.71	82	SNP	0.974	C
IP6K2	51447	genome.wustl.edu	37	3	48730707	48730708	+	Intron	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:48730707_48730708insC	ENST00000328631.5	-	3	426				IP6K2_ENST00000436134.1_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCTTACCCAGTTCCTTAGTCTC	0.396																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.203-95->G	3.37:g.48730707_48730708insC			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	NULL	p.L90fs	ENST00000328631.5	37	c.267_266	CCDS2777.1	3																																																																																			IP6K2	-	NULL	ENSG00000068745		0.396	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	82	0.00	0	-	NM_016291		48730707	48730708	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000449563	ensembl	human	putative	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	C
IP6K2	51447	genome.wustl.edu	37	3	48730708	48730709	+	Intron	INS	-	-	TC			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:48730708_48730709insTC	ENST00000328631.5	-	3	426				IP6K2_ENST00000436134.1_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTTACCCAGTTCCTTAGTCTCT	0.396																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.203-96->GA	3.37:g.48730708_48730709insTC			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	NULL	p.E89fs	ENST00000328631.5	37	c.266_265	CCDS2777.1	3																																																																																			IP6K2	-	NULL	ENSG00000068745		0.396	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	82	0.00	0	-	NM_016291		48730708	48730709	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000449563	ensembl	human	putative	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:1.000	TC
KBTBD6	89890	genome.wustl.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R442fs	ENST00000379485.1	37	c.1327_1326	CCDS9376.1	13																																																																																			KBTBD6	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000165572		0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	282	0.00	0	-	NM_152903		41705321	41705322	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	frame_shift_ins	153	10.00	17	INS	0.947:0.558	C
KIAA1804	84451	genome.wustl.edu	37	1	233490631	233490631	+	Silent	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:233490631C>A	ENST00000366624.3	+	4	1446	c.1185C>A	c.(1183-1185)ctC>ctA	p.L395L	MLK4_ENST00000366623.3_Silent_p.L395L	NM_032435.2	NP_115811.2																					CCTTAATTCTCGAACAGTTGA	0.383																																						dbGAP											0													150.0	141.0	144.0					1																	233490631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000366624.3:c.1185C>A	1.37:g.233490631C>A				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L395	ENST00000366624.3	37	c.1185	CCDS1598.1	1																																																																																			RP5-862P8.2	-	pirsf_MAPKKK9/10/11,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	ENSG00000143674		0.383	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Clone_based_vega_gene	protein_coding	OTTHUMT00000092495.1	336	0.00	0	C			233490631	233490631	+1	no_errors	ENST00000366624	ensembl	human	known	69_37n	silent	315	45.22	260	SNP	0.998	A
KLC1	3831	genome.wustl.edu	37	14	104121136	104121137	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr14:104121136_104121137insA	ENST00000348520.6	+	2	554_555	c.235_236insA	c.(235-237)ttgfs	p.L79fs	KLC1_ENST00000445352.4_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000347839.6_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000557450.1_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000553286.1_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000380038.3_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000389744.4_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000246489.7_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000555836.1_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000557575.1_Frame_Shift_Ins_p.L79fs|RP11-73M18.2_ENST00000472726.2_Frame_Shift_Ins_p.L251fs|KLC1_ENST00000554280.1_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000452929.2_Frame_Shift_Ins_p.L79fs|KLC1_ENST00000334553.6_Frame_Shift_Ins_p.L79fs	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACTGGAGATGTTGGAGCTCGGC	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	Exception_encountered	14.37:g.104121136_104121137insA	ENSP00000341154:p.Leu79fs		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Frame_Shift_Ins	INS	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.L79fs	ENST00000348520.6	37	c.235_236	CCDS41996.1	14																																																																																			KLC1	-	NULL	ENSG00000126214		0.416	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	304	0.00	0	-	NM_005552		104121136	104121137	+1	no_errors	ENST00000334553	ensembl	human	known	69_37n	frame_shift_ins	102	32.00	48	INS	0.812:1.000	A
KLHL42	57542	genome.wustl.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1191)gtggggfs	p.VG396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATCTACATCGTGGGGGGGTGTC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1194dupG	12.37:g.27950775_27950775dupG	ENSP00000370671:p.Val396fs		Q2VPK1|Q8N334	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.C399fs	ENST00000381271.2	37	c.1187_1188	CCDS31763.1	12																																																																																			KLHDC5	-	NULL	ENSG00000087448		0.594	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	106	0.00	0	-	NM_020782		27950768	27950769	+1	no_errors	ENST00000381271	ensembl	human	known	69_37n	frame_shift_ins	53	14.52	9	INS	1.000:0.988	G
KLHL1	57626	genome.wustl.edu	37	13	70281926	70281927	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr13:70281926_70281927insC	ENST00000377844.4	-	10	2776_2777	c.2017_2018insG	c.(2017-2019)tatfs	p.Y673fs	KLHL1_ENST00000545028.1_Frame_Shift_Ins_p.Y480fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	673					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTGGGATCATATCTAAAATTC	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2017_2018insG	13.37:g.70281926_70281927insC	ENSP00000367075:p.Tyr673fs		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Y673fs	ENST00000377844.4	37	c.2018_2017	CCDS9445.1	13																																																																																			KLHL1	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000150361		0.361	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	338	0.00	0	-	NM_020866		70281926	70281927	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	frame_shift_ins	243	27.25	91	INS	1.000:1.000	C
KYNU	8942	genome.wustl.edu	37	2	143685297	143685298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:143685297_143685298insT	ENST00000410015.2	+	4	450_451	c.360_361insT	c.(361-363)aagfs	p.K121fs	KYNU_ENST00000264170.4_Frame_Shift_Ins_p.K121fs|KYNU_ENST00000375773.2_Frame_Shift_Ins_p.K121fs|KYNU_ENST00000409512.1_Frame_Shift_Ins_p.K121fs					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TAGGCCTTATGAAGGACATTGT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	Exception_encountered	2.37:g.143685297_143685298insT	ENSP00000387296:p.Lys121fs			Frame_Shift_Ins	INS	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	p.K120fs	ENST00000410015.2	37	c.360_361		2																																																																																			KYNU	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	ENSG00000115919		0.356	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000332172.2	491	0.00	0	-	NM_001032998		143685297	143685298	+1	no_errors	ENST00000264170	ensembl	human	known	69_37n	frame_shift_ins	268	47.35	241	INS	0.996:0.613	T
KYNU	8942	genome.wustl.edu	37	2	143685303	143685306	+	Frame_Shift_Del	DEL	CATT	CATT	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	CATT	CATT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:143685303_143685306delCATT	ENST00000410015.2	+	4	456_459	c.366_369delCATT	c.(364-369)gacattfs	p.DI122fs	KYNU_ENST00000264170.4_Frame_Shift_Del_p.DI122fs|KYNU_ENST00000375773.2_Frame_Shift_Del_p.DI122fs|KYNU_ENST00000409512.1_Frame_Shift_Del_p.DI122fs					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTATGAAGGACATTGTAGGTAAGT	0.358																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.366_369delCATT	2.37:g.143685303_143685306delCATT	ENSP00000387296:p.Asp122fs			Frame_Shift_Del	DEL	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	p.D122fs	ENST00000410015.2	37	c.366_369		2																																																																																			KYNU	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	ENSG00000115919		0.358	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000332172.2	476	0.00	0	CATT	NM_001032998		143685303	143685306	+1	no_errors	ENST00000264170	ensembl	human	known	69_37n	frame_shift_del	250	45.18	206	DEL	1.000:1.000:1.000:1.000	-
LAMA3	3909	genome.wustl.edu	37	18	21426463	21426463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr18:21426463delC	ENST00000313654.9	+	31	4163	c.3922delC	c.(3922-3924)cgcfs	p.R1308fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.R1308fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1308	Domain III B.|Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGATTCCCACGCTGCAAGCG	0.617																																						dbGAP											0													19.0	21.0	20.0					18																	21426463		2099	4227	6326	-	-	-	SO:0001589	frameshift_variant	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3922delC	18.37:g.21426463delC	ENSP00000324532:p.Arg1308fs		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R1308fs	ENST00000313654.9	37	c.3922	CCDS42419.1	18																																																																																			LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000053747		0.617	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	52	0.00	0	C	NM_000227, NM_198129		21426463	21426463	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.032	-
LETM1	3954	genome.wustl.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		B4DED2|Q9UF65	Frame_Shift_Ins	INS	pfam_LETM1,pfscan_EF_HAND_2	p.A144fs	ENST00000302787.2	37	c.433_432	CCDS3355.1	4																																																																																			LETM1	-	NULL	ENSG00000168924		0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	141	0.00	0	-			1843235	1843236	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	frame_shift_ins	96	11.93	13	INS	0.000:0.000	G
LRG1	116844	genome.wustl.edu	37	19	4538291	4538292	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:4538291_4538292insT	ENST00000306390.6	-	2	1164_1165	c.704_705insA	c.(703-705)cagfs	p.Q235fs	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	235					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTCCGGCTGCGGCAAGAG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.705dupA	19.37:g.4538292_4538292dupT	ENSP00000302621:p.Gln235fs		Q8N4F5|Q96QZ4	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P236fs	ENST00000306390.6	37	c.705_704	CCDS12130.1	19																																																																																			LRG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.594	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	146	0.00	0	-	NM_052972		4538291	4538292	-1	no_errors	ENST00000306390	ensembl	human	known	69_37n	frame_shift_ins	44	80.44	181	INS	0.012:0.019	T
LRIF1	55791	genome.wustl.edu	37	1	111494582	111494582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:111494582delC	ENST00000369763.4	-	2	1314	c.924delG	c.(922-924)aagfs	p.K308fs	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTTGAAGACTTAACAGGAA	0.358																																						dbGAP											0													73.0	70.0	71.0					1																	111494582		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.924delG	1.37:g.111494582delC	ENSP00000358778:p.Lys308fs		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Frame_Shift_Del	DEL	NULL	p.K308fs	ENST00000369763.4	37	c.924	CCDS30800.1	1																																																																																			LRIF1	-	NULL	ENSG00000121931		0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	325	0.00	0	C	NM_018372		111494582	111494582	-1	no_errors	ENST00000369763	ensembl	human	known	69_37n	frame_shift_del	299	33.04	148	DEL	1.000	-
LRRC10	376132	genome.wustl.edu	37	12	70004164	70004164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr12:70004164delC	ENST00000361484.3	-	1	778	c.455delG	c.(454-456)ggcfs	p.G152fs		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	152					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCGTTGGAGCCGGCATGCAG	0.627																																						dbGAP											0													47.0	49.0	48.0					12																	70004164		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.455delG	12.37:g.70004164delC	ENSP00000355166:p.Gly152fs		Q6ZVY4	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G152fs	ENST00000361484.3	37	c.455	CCDS31856.1	12																																																																																			LRRC10	-	NULL	ENSG00000198812		0.627	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	180	0.00	0	C	NM_201550		70004164	70004164	-1	no_errors	ENST00000361484	ensembl	human	known	69_37n	frame_shift_del	53	72.11	137	DEL	1.000	-
MAGIX	79917	genome.wustl.edu	37	X	49021387	49021387	+	Silent	SNP	C	C	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chrX:49021387C>T	ENST00000412696.2	+	4	466	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	MAGIX_ENST00000376339.1_Silent_p.L97L|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Silent_p.L97L|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	156	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																CGTGCGCGGGCTGCTGAAGGA	0.627																																						dbGAP											0													40.0	43.0	42.0					X																	49021387		2060	4170	6230	-	-	-	SO:0001819	synonymous_variant	0			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.466C>T	X.37:g.49021387C>T			A6XND4|A8MSX9|B7WP26|Q14C81	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L156	ENST00000412696.2	37	c.466	CCDS48106.1	X																																																																																			MAGIX	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000017621		0.627	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	73	0.00	0	C	NM_024859		49021387	49021387	+1	no_errors	ENST00000412696	ensembl	human	known	69_37n	silent	32	36.54	19	SNP	0.327	T
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	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	94	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	91	13.33	14	INS	0.999:1.000	C
MED22	6837	genome.wustl.edu	37	9	136208393	136208394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr9:136208393_136208394insT	ENST00000491289.1	-	5	1145_1146	c.564_565insA	c.(562-567)cactccfs	p.S189fs	MED22_ENST00000476080.1_3'UTR|MED22_ENST00000343730.5_Frame_Shift_Ins_p.S189fs|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000471524.1_5'Flank			Q15528	MED22_HUMAN	mediator complex subunit 22	189						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CCAGCATGGGAGTGGGCAGGGG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.564_565insA	9.37:g.136208393_136208394insT	ENSP00000420393:p.Ser189fs		B3KW83|B3KWX4|O76072|Q5T8U0	Frame_Shift_Ins	INS	NULL	p.S188fs	ENST00000491289.1	37	c.565_564	CCDS6963.1	9																																																																																			MED22	-	NULL	ENSG00000148297		0.678	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	54	0.00	0	-	NM_133640		136208393	136208394	-1	no_errors	ENST00000343730	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.996:0.990	T
MICAL2	9645	genome.wustl.edu	37	11	12229617	12229617	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:12229617G>A	ENST00000256194.4	+	5	808	c.520G>A	c.(520-522)Gga>Aga	p.G174R	MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000537344.1_Missense_Mutation_p.G174R|MICAL2_ENST00000342902.5_Missense_Mutation_p.G174R|MICAL2_ENST00000379612.3_Missense_Mutation_p.G174R|MICAL2_ENST00000527546.1_Missense_Mutation_p.G174R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	174	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCTGATGCTGGGAGTTGAAAT	0.448																																						dbGAP											0													230.0	201.0	211.0					11																	12229617		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.520G>A	11.37:g.12229617G>A	ENSP00000256194:p.Gly174Arg		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.G174R	ENST00000256194.4	37	c.520	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.291449	0.95546	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67;-4.67	5.64	5.64	0.86602	.	0.059022	0.64402	D	0.000003	D	0.99080	0.9684	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	.	19.4873	0.95035	0.0:0.0:1.0:0.0	.	174;174;174;174;174;174	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	R	174	ENSP00000441689:G174R;ENSP00000256194:G174R;ENSP00000433965:G174R;ENSP00000344894:G174R;ENSP00000368932:G174R	ENSP00000256194:G174R	G	+	1	0	MICAL2	12186193	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.623000	0.98386	2.937000	0.99478	0.650000	0.86243	GGA	MICAL2	-	NULL	ENSG00000133816		0.448	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	725	0.00	0	G	NM_014632		12229617	12229617	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	missense	661	15.99	126	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36224339	36224340	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:36224339_36224340insC	ENST00000222270.7	+	28	6889_6890	c.6889_6890insC	c.(6889-6891)gccfs	p.A2297fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.A2297fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2297					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCATACAAAGCCCCCCGGCTG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6895dupC	19.37:g.36224345_36224345dupC	ENSP00000222270:p.Ala2297fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R2299fs	ENST00000222270.7	37	c.6889_6890	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.683	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		24	0.00	0	-	NM_014727		36224339	36224340	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.953:0.977	C
MRC1	4360	genome.wustl.edu	37	10	18155569	18155569	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:18155569C>A	ENST00000239761.3	+	12	1965	c.1862C>A	c.(1861-1863)gCa>gAa	p.A621E	RP11-457D2.3_ENST00000442231.1_RNA	NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	621	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GATGAAAAGGCAAAATTTGTG	0.522																																					GBM(115;1153 1594 28187 28781 35884)	dbGAP											0													6.0	6.0	6.0					10																	18155569		1857	3211	5068	-	-	-	SO:0001583	missense	0			J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"""CD molecules"", ""C-type lectin domain containing"""	7228	protein-coding gene	gene with protein product		153618	"""mannose receptor, C type 1-like 1"""	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1862C>A	10.37:g.18155569C>A	ENSP00000239761:p.Ala621Glu		A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.A621E	ENST00000239761.3	37	c.1862	CCDS7123.1	10	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721676	0.15372	.	.	ENSG00000120586	ENST00000239761	T	0.55234	0.53	4.25	3.34	0.38264	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.362638	0.22041	U	0.065455	T	0.51363	0.1670	L	0.31157	0.91	0.37233	D	0.905798	D	0.58620	0.983	P	0.55112	0.769	T	0.54596	-0.8270	10	0.36615	T	0.2	-30.2667	11.8376	0.52336	0.0:0.9141:0.0:0.0859	.	621	P22897	MRC1_HUMAN	E	621	ENSP00000239761:A621E	ENSP00000239761:A621E	A	+	2	0	MRC1	18195575	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.500000	0.35682	0.989000	0.38761	0.436000	0.28706	GCA	MRC1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000120586		0.522	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC1	HGNC	protein_coding	OTTHUMT00000047057.1	92	0.00	0	C	NM_002438		18155569	18155569	+1	no_errors	ENST00000239761	ensembl	human	known	69_37n	missense	95	33.57	48	SNP	1.000	A
MUC5B	727897	genome.wustl.edu	37	11	1257711	1257711	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:1257711delC	ENST00000529681.1	+	24	3034	c.2976delC	c.(2974-2976)ttcfs	p.F992fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.F995fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	992	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGATCTTCCTGGTCATCG	0.622																																						dbGAP											0													72.0	83.0	79.0					11																	1257711		2021	4177	6198	-	-	-	SO:0001589	frameshift_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2976delC	11.37:g.1257711delC	ENSP00000436812:p.Phe992fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L996fs	ENST00000529681.1	37	c.2985	CCDS44515.2	11																																																																																			MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000117983		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	86	0.00	0	C	XM_001126093		1257711	1257711	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
MYH11	4629	genome.wustl.edu	37	16	15802686	15802687	+	Intron	INS	-	-	G	rs111588143	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:15802686_15802687insG	ENST00000300036.5	-	41	5896				NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Intron|MYH11_ENST00000576790.2_Frame_Shift_Ins_p.P1933fs|MYH11_ENST00000452625.2_Frame_Shift_Ins_p.P1940fs|MYH11_ENST00000573908.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTTCCTGTGGGGGGGGCCC	0.495			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0									,,,,,	37,4227		0,37,2095					,,,,,	1.7	1.0			33	57,8197		0,57,4070	no	frameshift,intron,intron,intron,intron,frameshift	MYH11,NDE1	NM_022844.2,NM_017668.2,NM_002474.2,NM_001143979.1,NM_001040114.1,NM_001040113.1	,,,,,	0,94,6165	A1A1,A1R,RR		0.6906,0.8677,0.7509	,,,,,	,,,,,		94,12424				-	-	-	SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5787-4706->C	16.37:g.15802694_15802694dupG			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q1941fs	ENST00000300036.5	37	c.5820_5819	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.495	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	85	0.00	0	-	NM_001040113		15802686	15802687	-1	no_errors	ENST00000452625	ensembl	human	known	69_37n	frame_shift_ins	34	17.07	7	INS	1.000:1.000	G
NAIF1	203245	genome.wustl.edu	37	9	130825869	130825869	+	Silent	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr9:130825869G>T	ENST00000373078.4	-	2	1041	c.822C>A	c.(820-822)gcC>gcA	p.A274A	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	274					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCCCTCCATGGCCTGGGCCT	0.627																																						dbGAP											0													83.0	75.0	78.0					9																	130825869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.822C>A	9.37:g.130825869G>T			B3KV81|Q8WU12	Silent	SNP	NULL	p.A274	ENST00000373078.4	37	c.822	CCDS6889.1	9																																																																																			NAIF1	-	NULL	ENSG00000171169		0.627	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	240	0.41	1	G	NM_197956		130825869	130825869	-1	no_errors	ENST00000373078	ensembl	human	known	69_37n	silent	16	72.88	43	SNP	1.000	T
NELL1	4745	genome.wustl.edu	37	11	21250897	21250897	+	Silent	SNP	C	C	T	rs561513540		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:21250897C>T	ENST00000357134.5	+	14	1598	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	NELL1_ENST00000532434.1_Silent_p.S482S|NELL1_ENST00000325319.5_Silent_p.S425S|NELL1_ENST00000298925.5_Silent_p.S510S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	482	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATGTGGCAGCGGCCAGCACA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21339	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													83.0	67.0	73.0					11																	21250897		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1446C>T	11.37:g.21250897C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.S482	ENST00000357134.5	37	c.1446	CCDS7855.1	11																																																																																			NELL1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000165973		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	194	0.00	0	C	NM_006157		21250897	21250897	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	silent	58	37.23	35	SNP	0.001	T
NINL	22981	genome.wustl.edu	37	20	25485550	25485550	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:25485550C>A	ENST00000278886.6	-	6	755	c.682G>T	c.(682-684)Gtc>Ttc	p.V228F	NINL_ENST00000422516.1_Missense_Mutation_p.V228F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	228	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.V228I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGAGCCCGACGCTCTGGCAG	0.642																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											50.0	52.0	51.0					20																	25485550		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.682G>T	20.37:g.25485550C>A	ENSP00000278886:p.Val228Phe		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.V228F	ENST00000278886.6	37	c.682	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655651	0.47467	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.79940	-1.32;-1.32	5.18	2.92	0.33932	EF-hand-like domain (1);	0.481287	0.20968	N	0.082445	T	0.74329	0.3702	N	0.11364	0.135	0.25889	N	0.983497	D;D	0.61697	0.973;0.99	P;P	0.61477	0.729;0.889	T	0.64719	-0.6341	10	0.46703	T	0.11	-13.2297	7.53	0.27677	0.0:0.1938:0.0:0.8062	.	228;228	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	228	ENSP00000278886:V228F;ENSP00000410431:V228F	ENSP00000278886:V228F	V	-	1	0	NINL	25433550	0.996000	0.38824	0.925000	0.36789	0.928000	0.56348	0.416000	0.21198	0.450000	0.26774	0.655000	0.94253	GTC	NINL	-	smart_EF_hand_Ca-bd	ENSG00000101004		0.642	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	79	0.00	0	C	NM_025176		25485550	25485550	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	7	82.05	32	SNP	0.985	A
NR5A2	2494	genome.wustl.edu	37	1	200143157	200143159	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:200143157_200143159delTGG	ENST00000367362.3	+	8	1691_1693	c.1445_1447delTGG	c.(1444-1449)ctggac>cac	p.482_483LD>H	NR5A2_ENST00000544748.1_In_Frame_Del_p.410_411LD>H|NR5A2_ENST00000236914.3_In_Frame_Del_p.436_437LD>H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	482					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCCGCCCTGCTGGACTACACAAT	0.429																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1445_1447delTGG	1.37:g.200143157_200143159delTGG	ENSP00000356331:p.Leu482_Asp483delinsHis		B4E2P3|O95642|Q147U3	In_Frame_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.LD482in_frame_delH	ENST00000367362.3	37	c.1445_1447	CCDS1401.1	1																																																																																			NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.429	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	123	0.00	0	TGG			200143157	200143159	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	in_frame_del	62	21.52	17	DEL	1.000:1.000:1.000	-
NYNRIN	57523	genome.wustl.edu	37	14	24885799	24885799	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr14:24885799C>T	ENST00000382554.3	+	9	5162	c.4844C>T	c.(4843-4845)tCg>tTg	p.S1615L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1615	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCCCTGGTCGAACCTGCAG	0.577																																						dbGAP											0													40.0	41.0	41.0					14																	24885799		1950	4126	6076	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4844C>T	14.37:g.24885799C>T	ENSP00000371994:p.Ser1615Leu		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.S1615L	ENST00000382554.3	37	c.4844	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216761	0.58452	.	.	ENSG00000205978	ENST00000382554	T	0.43688	0.94	5.25	5.25	0.73442	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.35068	0.0919	L	0.55213	1.73	0.24836	N	0.992491	P	0.39404	0.672	B	0.28553	0.091	T	0.43196	-0.9406	9	0.87932	D	0	.	11.2956	0.49276	0.1815:0.8185:0.0:0.0	.	1615	Q9P2P1	NYNRI_HUMAN	L	1615	ENSP00000371994:S1615L	ENSP00000371994:S1615L	S	+	2	0	NYNRIN	23955639	0.832000	0.29368	0.936000	0.37596	0.934000	0.57294	1.329000	0.33770	2.717000	0.92951	0.655000	0.94253	TCG	NYNRIN	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000205978		0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	104	0.00	0	C			24885799	24885799	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	0.788	T
OR10G9	219870	genome.wustl.edu	37	11	123894140	123894140	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:123894140G>A	ENST00000375024.1	+	1	421	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		GAGCAGATGTGCCCTCCTGGC	0.542																																						dbGAP											0													90.0	81.0	84.0					11																	123894140		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.421G>A	11.37:g.123894140G>A	ENSP00000364164:p.Ala141Thr			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A141T	ENST00000375024.1	37	c.421	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.610240	0.00835	.	.	ENSG00000236981	ENST00000375024	T	0.37752	1.18	3.48	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.663946	0.13123	N	0.412042	T	0.20129	0.0484	N	0.21194	0.64	0.09310	N	1	B	0.12013	0.005	B	0.23574	0.047	T	0.30851	-0.9964	10	0.15066	T	0.55	.	4.455	0.11639	0.1966:0.0:0.6278:0.1755	.	141	Q8NGN4	O10G9_HUMAN	T	141	ENSP00000364164:A141T	ENSP00000364164:A141T	A	+	1	0	OR10G9	123399350	0.000000	0.05858	0.093000	0.20910	0.049000	0.14656	-1.062000	0.03468	0.287000	0.22375	0.655000	0.94253	GCC	OR10G9	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000236981		0.542	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	350	0.00	0	G	NM_001001953		123894140	123894140	+1	no_errors	ENST00000375024	ensembl	human	known	69_37n	missense	185	40.13	124	SNP	0.000	A
OR10Z1	128368	genome.wustl.edu	37	1	158577066	158577066	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:158577066G>T	ENST00000361284.1	+	1	838	c.838G>T	c.(838-840)Gta>Tta	p.V280L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GACCTATACTGTAGTGACCCC	0.463																																						dbGAP											0													235.0	237.0	237.0					1																	158577066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.838G>T	1.37:g.158577066G>T	ENSP00000354707:p.Val280Leu		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V280L	ENST00000361284.1	37	c.838	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495782	0.44352	.	.	ENSG00000198967	ENST00000361284	T	0.00279	8.33	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	N	0.003764	T	0.00144	0.0004	L	0.61218	1.895	0.37338	D	0.910251	P	0.35600	0.511	B	0.38194	0.267	T	0.72443	-0.4292	10	0.45353	T	0.12	.	11.162	0.48520	0.0886:0.0:0.9114:0.0	.	280	Q8NGY1	O10Z1_HUMAN	L	280	ENSP00000354707:V280L	ENSP00000354707:V280L	V	+	1	0	OR10Z1	156843690	0.000000	0.05858	1.000000	0.80357	0.540000	0.34992	0.305000	0.19254	2.528000	0.85240	0.650000	0.86243	GTA	OR10Z1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198967		0.463	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	457	0.22	1	G	NM_001004478		158577066	158577066	+1	no_errors	ENST00000361284	ensembl	human	known	69_37n	missense	239	30.23	104	SNP	1.000	T
PAPSS2	9060	genome.wustl.edu	37	10	89505676	89505676	+	Silent	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:89505676C>A	ENST00000361175.4	+	12	2163	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	PAPSS2_ENST00000456849.1_Silent_p.P603P|PAPSS2_ENST00000427144.2_Silent_p.P602P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	598					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCATGGCCCCCAAAGCATGGA	0.493																																						dbGAP											0													79.0	86.0	84.0					10																	89505676		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1794C>A	10.37:g.89505676C>A			Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.P603	ENST00000361175.4	37	c.1809	CCDS7385.1	10																																																																																			PAPSS2	-	pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase	ENSG00000198682		0.493	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	178	0.00	0	C			89505676	89505676	+1	no_errors	ENST00000456849	ensembl	human	known	69_37n	silent	52	40.23	35	SNP	1.000	A
PAX6	5080	genome.wustl.edu	37	11	31823284	31823286	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	TAA	TAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr11:31823284_31823286delTAA	ENST00000379132.3	-	5	460_462	c.180_182delTTA	c.(178-183)tattac>tac	p.60_61YY>Y	PAX6_ENST00000379111.2_In_Frame_Del_p.60_61YY>Y|PAX6_ENST00000379123.5_In_Frame_Del_p.60_61YY>Y|PAX6_ENST00000379129.2_In_Frame_Del_p.74_75YY>Y|PAX6_ENST00000241001.8_In_Frame_Del_p.60_61YY>Y|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379115.4_In_Frame_Del_p.74_75YY>Y|PAX6_ENST00000379107.2_In_Frame_Del_p.74_75YY>Y|PAX6_ENST00000419022.1_In_Frame_Del_p.74_75YY>Y			P26367	PAX6_HUMAN	paired box 6	60	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.Y74_Y75ins*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCCAGTCTCGTAATACCTGCCCA	0.443									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													dbGAP											1	Insertion - In frame(1)	central_nervous_system(1)																																								-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.180_182delTTA	11.37:g.31823284_31823286delTAA	ENSP00000368427:p.Tyr61del		Q6N006|Q99413	In_Frame_Del	DEL	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.Y75in_frame_del	ENST00000379132.3	37	c.224_222	CCDS31451.1	11																																																																																			PAX6	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000007372		0.443	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	401	0.00	0	TAA	NM_001604		31823284	31823286	-1	no_errors	ENST00000379107	ensembl	human	known	69_37n	in_frame_del	204	38.18	126	DEL	1.000:1.000:1.000	-
PCDH19	57526	genome.wustl.edu	37	X	99662504	99662505	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chrX:99662504_99662505insG	ENST00000373034.4	-	1	2766_2767	c.1091_1092insC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACGTAGCCCGGGGGGGCGCT	0.609																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CI082278	PCDH19	I																																				-	-	-	SO:0001589	frameshift_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1092dupC	X.37:g.99662511_99662511dupG	ENSP00000362125:p.Pro364fs		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y366fs	ENST00000373034.4	37	c.1092_1091	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.609	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	112	0.00	0	-	NM_020766		99662504	99662505	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	0.984:1.000	G
PCDHA11	56138	genome.wustl.edu	37	5	140250369	140250369	+	Missense_Mutation	SNP	G	G	A	rs374163229		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:140250369G>A	ENST00000398640.2	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.682																																						dbGAP											0													87.0	96.0	93.0					5																	140250369		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1681G>A	5.37:g.140250369G>A	ENSP00000381636:p.Ala561Thr		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A561T	ENST00000398640.2	37	c.1681	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985375	0.18889	.	.	ENSG00000249158	ENST00000398640	T	0.43294	0.95	5.35	3.57	0.40892	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.42245	0.1194	M	0.65498	2.005	0.23906	N	0.996501	D;B	0.57899	0.981;0.239	B;B	0.44315	0.446;0.094	T	0.33929	-0.9849	9	0.56958	D	0.05	.	7.2317	0.26046	0.1507:0.139:0.7102:0.0	.	561;561	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	561	ENSP00000381636:A561T	ENSP00000381636:A561T	A	+	1	0	PCDHA11	140230553	0.067000	0.21026	0.986000	0.45419	0.144000	0.21451	0.369000	0.20416	0.649000	0.30751	0.556000	0.70494	GCG	PCDHA11	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000249158		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	130	0.00	0	G	NM_018902		140250369	140250369	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	0.995	A
PKHD1	5314	genome.wustl.edu	37	6	51484109	51484110	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr6:51484109_51484110insC	ENST00000371117.3	-	67	12269_12270	c.11994_11995insG	c.(11992-11997)aactggfs	p.W3999fs	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3999					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTCCTTCCAGTTCCCAGTCT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11994_11995insG	6.37:g.51484109_51484110insC	ENSP00000360158:p.Trp3999fs		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Ins	INS	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.W3998fs	ENST00000371117.3	37	c.11995_11994	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.574	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	134	0.00	0	-	NM_138694		51484109	51484110	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	frame_shift_ins	54	44.33	43	INS	0.961:0.735	C
PLA2G15	23659	genome.wustl.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)tggfs	p.W230fs	PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.LG188fs|RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.W136fs|PLA2G15_ENST00000444212.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629																																						dbGAP											0										11,4251		0,11,2120						5.6	1.0			28	14,8240		0,14,4113	no	frameshift	PLA2G15	NM_012320.3		0,25,6233	A1A1,A1R,RR		0.1696,0.2581,0.1997				25,12491				-	-	-	SO:0001589	frameshift_variant	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.695dupG	16.37:g.68289861_68289861dupG	ENSP00000219345:p.Trp230fs		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Ins	INS	pfam_LACT/PDAT_acylTrfase	p.V233fs	ENST00000219345.5	37	c.688_689	CCDS10864.1	16																																																																																			PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.629	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	71	0.00	0	-	NM_012320		68289854	68289855	+1	no_errors	ENST00000219345	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:1.000	G
PLK4	10733	genome.wustl.edu	37	4	128807873	128807873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr4:128807873delA	ENST00000270861.5	+	5	1622	c.1348delA	c.(1348-1350)aatfs	p.N450fs	PLK4_ENST00000507249.1_Intron|PLK4_ENST00000514379.1_Frame_Shift_Del_p.N409fs|PLK4_ENST00000513090.1_Frame_Shift_Del_p.N418fs|PLK4_ENST00000515069.1_Frame_Shift_Del_p.N450fs	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	450					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACCTGATAACAATCAAGCACT	0.363																																					Colon(135;508 1718 19061 31832 42879)	dbGAP											0													38.0	38.0	38.0					4																	128807873		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1348delA	4.37:g.128807873delA	ENSP00000270861:p.Asn450fs		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.N450fs	ENST00000270861.5	37	c.1348	CCDS3735.1	4																																																																																			PLK4	-	NULL	ENSG00000142731		0.363	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	207	0.00	0	A			128807873	128807873	+1	no_errors	ENST00000270861	ensembl	human	known	69_37n	frame_shift_del	39	31.67	19	DEL	0.094	-
TMEM256-PLSCR3	100529211	genome.wustl.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR					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	194	0.00	0	-			7294058	7294059	-1	no_errors	ENST00000324822	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.637:1.000	C
PRAMEF11	440560	genome.wustl.edu	37	1	12887458	12887458	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:12887458C>A	ENST00000535591.1	-	3	594	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	133					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AATCTCTCCTCTGCTTGACCC	0.463																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.399G>T	1.37:g.12887458C>A	ENSP00000439551:p.Gln133His			Missense_Mutation	SNP	NULL	p.Q133H	ENST00000535591.1	37	c.399	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	5.168	0.216491	0.09810	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14144	2.53;2.53	1.48	1.48	0.22813	.	0.988029	0.08249	N	0.974933	T	0.19525	0.0469	M	0.62723	1.935	0.09310	N	1	P	0.38440	0.631	B	0.44278	0.445	T	0.26467	-1.0102	10	0.44086	T	0.13	.	6.4564	0.21932	0.0:1.0:0.0:0.0	.	133	O60813	PRA11_HUMAN	H	133;174;133	ENSP00000439551:Q133H;ENSP00000391839:Q133H	ENSP00000328783:Q174H	Q	-	3	2	PRAMEF11	12810045	0.014000	0.17966	0.086000	0.20670	0.052000	0.14988	0.152000	0.16302	1.137000	0.42214	0.400000	0.26472	CAG	PRAMEF11	-	NULL	ENSG00000204513		0.463	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		386	0.00	0	C	XM_496341		12887458	12887458	-1	no_errors	ENST00000535591	ensembl	human	known	69_37n	missense	138	52.90	155	SNP	0.112	A
LZTS3	9762	genome.wustl.edu	37	20	3146923	3146924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:3146923_3146924insG	ENST00000329152.3	-	2	1939_1940	c.542_543insC	c.(541-543)ccgfs	p.P181fs	LZTS3_ENST00000337576.5_Frame_Shift_Ins_p.P181fs|LZTS3_ENST00000360342.3_Frame_Shift_Ins_p.P181fs			O60299	LZTS3_HUMAN		181						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.Q182fs*7(1)									CATTGGTCTGCGGGGGGCACAA	0.609																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								3,4261		0,3,2129						-4.2	1.0			40	4,8250		0,4,4123	no	frameshift	ProSAPiP1	NM_014731.2		0,7,6252	A1A1,A1R,RR		0.0485,0.0704,0.0559				7,12511				-	-	-	SO:0001589	frameshift_variant	0																														ENST00000329152.3:c.543dupC	20.37:g.3146929_3146929dupG	ENSP00000332123:p.Pro181fs		A2A2Q7|D3DVX6|Q8IXX8	Frame_Shift_Ins	INS	pfam_Fez1	p.Q182fs	ENST00000329152.3	37	c.543_542	CCDS13049.1	20																																																																																			RP5-1187M17.10	-	NULL	ENSG00000088899		0.609	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSAPIP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000077715.2	189	0.00	0	-			3146923	3146924	-1	no_errors	ENST00000329152	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.989:1.000	G
PVRL3	25945	genome.wustl.edu	37	3	110845147	110845147	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:110845147G>T	ENST00000485303.1	+	5	1309	c.1034G>T	c.(1033-1035)gGt>gTt	p.G345V	PVRL3_ENST00000493615.1_Missense_Mutation_p.G322V|PVRL3_ENST00000319792.3_Missense_Mutation_p.G345V	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	345	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AATTCCCTTGGTCAAAGAAGT	0.318																																						dbGAP											0													84.0	82.0	82.0					3																	110845147		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1034G>T	3.37:g.110845147G>T	ENSP00000418070:p.Gly345Val		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G345V	ENST00000485303.1	37	c.1034	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446999	0.84101	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.23348	1.91;1.91;1.91	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044143	0.85682	D	0.000000	T	0.65739	0.2720	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.76977	-0.2759	10	0.87932	D	0	.	17.2428	0.87019	0.0:0.0:1.0:0.0	.	322;345	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	V	345;345;322	ENSP00000418070:G345V;ENSP00000321514:G345V;ENSP00000420579:G322V	ENSP00000321514:G345V	G	+	2	0	PVRL3	112327837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.736000	0.93811	0.591000	0.81541	GGT	PVRL3	-	pfscan_Ig-like	ENSG00000177707		0.318	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	543	0.00	0	G	NM_015480		110845147	110845147	+1	no_errors	ENST00000485303	ensembl	human	known	69_37n	missense	319	23.13	96	SNP	1.000	T
RBM20	282996	genome.wustl.edu	37	10	112581637	112581638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:112581637_112581638insC	ENST00000369519.3	+	11	3318_3319	c.3260_3261insC	c.(3259-3264)agccccfs	p.SP1087fs		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1087					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I1090fs*4(1)		autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GAGAAAGCCAGCCCCCCCATCG	0.594																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)								7,2173		1,5,1084						4.1	0.9			41	4,4226		1,2,2112	no	frameshift	RBM20	NM_001134363.1		2,7,3196	A1A1,A1R,RR		0.0946,0.3211,0.1716				11,6399				-	-	-	SO:0001589	frameshift_variant	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3267dupC	10.37:g.112581644_112581644dupC	ENSP00000358532:p.Ser1087fs		A6NIP5|B5A868|Q5JVI1	Frame_Shift_Ins	INS	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.I1090fs	ENST00000369519.3	37	c.3260_3261	CCDS44477.1	10																																																																																			RBM20	-	NULL	ENSG00000203867		0.594	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	133	0.00	0	-	NM_001134363		112581637	112581638	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	frame_shift_ins	46	11.54	6	INS	0.969:0.936	C
RELN	5649	genome.wustl.edu	37	7	103191642	103191642	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr7:103191642G>T	ENST00000428762.1	-	41	6333	c.6174C>A	c.(6172-6174)tgC>tgA	p.C2058*	RELN_ENST00000424685.2_Nonsense_Mutation_p.C2058*|RELN_ENST00000343529.5_Nonsense_Mutation_p.C2058*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2058					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTGTGGTAGCAGAGGGGCA	0.597																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													71.0	54.0	59.0					7																	103191642		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6174C>A	7.37:g.103191642G>T	ENSP00000392423:p.Cys2058*		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.C2058*	ENST00000428762.1	37	c.6174	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.122817	0.99780	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.7	4.81	0.61882	.	0.105286	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3411	0.55095	0.1329:0.0:0.8671:0.0	.	.	.	.	X	2058	.	ENSP00000345694:C2058X	C	-	3	2	RELN	102978878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.718000	0.54919	2.683000	0.91414	0.650000	0.86243	TGC	RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.597	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	78	0.00	0	G	NM_005045		103191642	103191642	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	nonsense	34	19.05	8	SNP	1.000	T
RIPK1	8737	genome.wustl.edu	37	6	3077011	3077012	+	5'UTR	INS	-	-	G	rs375497021|rs202096237|rs368197023	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr6:3077011_3077012insG	ENST00000259808.4	+	0	252_253				RIPK1_ENST00000541791.1_5'Flank|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_5'Flank			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACAGCTCTGCCGGGGGGGGAAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.-46->G	6.37:g.3077019_3077019dupG			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	RNA	INS	-	NULL	ENST00000259808.4	37	NULL	CCDS4482.1	6																																																																																			RIPK1	-	-	ENSG00000137275		0.391	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	92	0.00	0	-	NM_003804		3077011	3077012	+1	no_errors	ENST00000490396	ensembl	human	known	69_37n	rna	71	14.46	12	INS	0.000:0.000	G
RPAP1	26015	genome.wustl.edu	37	15	41815547	41815549	+	In_Frame_Del	DEL	GCT	GCT	-	rs141661497		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr15:41815547_41815549delGCT	ENST00000304330.4	-	18	2556_2558	c.2440_2442delAGC	c.(2440-2442)agcdel	p.S815del	RPAP1_ENST00000561603.1_In_Frame_Del_p.S815del	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	815						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S814R(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGGGCATGAGCTTGGCTGGTGG	0.596																																						dbGAP											1	Substitution - Missense(1)	kidney(1)																																								-	-	-	SO:0001651	inframe_deletion	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2440_2442delAGC	15.37:g.41815547_41815549delGCT	ENSP00000306123:p.Ser815del		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	In_Frame_Del	DEL	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S815in_frame_del	ENST00000304330.4	37	c.2442_2440	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.596	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	62	0.00	0	GCT	NM_015540		41815547	41815549	-1	no_errors	ENST00000304330	ensembl	human	known	69_37n	in_frame_del	64	50.00	69	DEL	0.000:0.000:0.000	-
RPAP2	79871	genome.wustl.edu	37	1	92789086	92789086	+	Silent	SNP	A	A	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:92789086A>G	ENST00000610020.1	+	8	718	c.609A>G	c.(607-609)caA>caG	p.Q203Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	203					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTGAAAAGCAATATGAATCTA	0.388																																						dbGAP											0													119.0	126.0	124.0					1																	92789086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.609A>G	1.37:g.92789086A>G			C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	pfam_DUF408	p.Q203	ENST00000610020.1	37	c.609	CCDS740.1	1																																																																																			RPAP2	-	NULL	ENSG00000122484		0.388	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	371	0.00	0	A	NM_024813		92789086	92789086	+1	no_errors	ENST00000370343	ensembl	human	known	69_37n	silent	147	34.80	79	SNP	0.000	G
SEMA5A	9037	genome.wustl.edu	37	5	9202176	9202176	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr5:9202176G>T	ENST00000382496.5	-	9	1488	c.823C>A	c.(823-825)Cgc>Agc	p.R275S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	275	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGTTCAGGCGAGCCTTCATG	0.522																																						dbGAP											0													92.0	84.0	87.0					5																	9202176		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.823C>A	5.37:g.9202176G>T	ENSP00000371936:p.Arg275Ser		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.R275S	ENST00000382496.5	37	c.823	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216442	0.79352	.	.	ENSG00000112902	ENST00000382496	T	0.25085	1.82	5.84	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	H	0.94423	3.535	0.80722	D	1	P	0.34684	0.463	B	0.42625	0.393	T	0.59637	-0.7417	10	0.66056	D	0.02	.	13.7045	0.62629	0.0:0.0:0.8445:0.1555	.	275	Q13591	SEM5A_HUMAN	S	275	ENSP00000371936:R275S	ENSP00000371936:R275S	R	-	1	0	SEMA5A	9255176	1.000000	0.71417	0.086000	0.20670	0.941000	0.58515	3.835000	0.55805	1.397000	0.46682	0.655000	0.94253	CGC	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000112902		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	235	0.00	0	G			9202176	9202176	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	88	36.23	50	SNP	0.975	T
SETDB1	9869	genome.wustl.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs|SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						dbGAP											0									,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				-	-	-	SO:0001627	intron_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	smart_Tudor	p.T396fs	ENST00000271640.5	37	c.1179_1180	CCDS44217.1	1																																																																																			SETDB1	-	NULL	ENSG00000143379		0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	300	0.00	0	-			150917623	150917624	+1	no_errors	ENST00000368962	ensembl	human	known	69_37n	frame_shift_ins	452	12.57	65	INS	0.000:0.000	G
SLC18A2	6571	genome.wustl.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-708)ggccccfs	p.GP235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.711dupC	10.37:g.119014798_119014798dupC	ENSP00000298472:p.Gly235fs		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F238fs	ENST00000298472.5	37	c.704_705	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.569	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	168	0.00	0	-	NM_003054		119014791	119014792	+1	no_errors	ENST00000298472	ensembl	human	known	69_37n	frame_shift_ins	52	10.34	6	INS	1.000:0.136	C
SMTN	6525	genome.wustl.edu	37	22	31487798	31487799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr22:31487798_31487799insC	ENST00000347557.2	+	11	1815_1816	c.1597_1598insC	c.(1597-1599)gccfs	p.A533fs	SMTN_ENST00000333137.7_Frame_Shift_Ins_p.A533fs|SMTN_ENST00000358743.1_Frame_Shift_Ins_p.A533fs|SMTN_ENST00000404574.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	533					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.S536fs*2(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCAGCCATGCCCCCCCCAGT	0.629																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)							,,,,	39,4217		2,35,2091					,,,,	3.4	1.0			43	90,8154		1,88,4033	no	frameshift,frameshift,frameshift,frameshift,frameshift	SMTN	NM_134270.2,NM_134269.2,NM_006932.4,NM_001207018.1,NM_001207017.1	,,,,	3,123,6124	A1A1,A1R,RR		1.0917,0.9164,1.032	,,,,	,,,,		129,12371				-	-	-	SO:0001589	frameshift_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1605dupC	22.37:g.31487806_31487806dupC	ENSP00000328635:p.Ala533fs		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Ins	INS	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S536fs	ENST00000347557.2	37	c.1597_1598	CCDS13886.1	22																																																																																			SMTN	-	NULL	ENSG00000183963		0.629	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	75	0.00	0	-	NM_134270		31487798	31487799	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	frame_shift_ins	10	23.08	3	INS	1.000:0.994	C
SPDYE1	285955	genome.wustl.edu	37	7	44047341	44047341	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr7:44047341G>A	ENST00000258704.3	+	6	1122	c.985G>A	c.(985-987)Gcg>Acg	p.A329T	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	329										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CTGGGTGTGGGCGCGAGATCG	0.597																																						dbGAP											0													2.0	3.0	3.0					7																	44047341		758	1694	2452	-	-	-	SO:0001583	missense	0			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.985G>A	7.37:g.44047341G>A	ENSP00000258704:p.Ala329Thr		Q9NTH5	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.A329T	ENST00000258704.3	37	c.985	CCDS5475.1	7	.	.	.	.	.	.	.	.	.	.	.	8.466	0.856413	0.17106	.	.	ENSG00000136206	ENST00000258704	.	.	.	.	.	.	.	1.746200	0.03176	N	0.171484	T	0.22244	0.0536	N	0.14661	0.345	0.09310	N	0.999999	B	0.26935	0.164	B	0.27170	0.077	T	0.20472	-1.0274	7	0.36615	T	0.2	.	.	.	.	.	329	Q8NFV5	SPDE1_HUMAN	T	329	.	ENSP00000258704:A329T	A	+	1	0	SPDYE1	44013866	0.997000	0.39634	0.382000	0.26119	0.385000	0.30292	-0.054000	0.11826	0.088000	0.17205	0.089000	0.15464	GCG	SPDYE1	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000136206		0.597	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYE1	HGNC	protein_coding	OTTHUMT00000250974.1	172	0.00	0	G	NM_175064		44047341	44047341	+1	no_errors	ENST00000258704	ensembl	human	known	69_37n	missense	30	35.42	17	SNP	0.393	A
SSPO	23145	genome.wustl.edu	37	7	149501109	149501110	+	RNA	INS	-	-	G	rs530953664|rs552397911	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr7:149501109_149501110insG	ENST00000378016.2	+	0	8245_8246							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCGGCAGCCTGGGGGGGTGCC	0.668													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	4	0.000798722	0.0015	0.0029	5008	,	,		18333	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149501116_149501116dupG			Q76B61	RNA	INS	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.668	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		28	0.00	0	-			149501109	149501110	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	5	28.57	2	INS	0.000:0.000	G
STAT6	6778	genome.wustl.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000543873.2_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	111	0.00	0	-	NM_003153		57499093	57499094	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	frame_shift_ins	50	12.28	7	INS	1.000:1.000	G
SULF1	23213	genome.wustl.edu	37	8	70550743	70550743	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr8:70550743C>A	ENST00000260128.4	+	20	3008	c.2291C>A	c.(2290-2292)tCt>tAt	p.S764Y	SULF1_ENST00000419716.3_Missense_Mutation_p.S764Y|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.S764Y|SULF1_ENST00000458141.2_Missense_Mutation_p.S764Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	764					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACAGTGGGATCTTTCTGTGCT	0.383																																						dbGAP											0													88.0	83.0	85.0					8																	70550743		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2291C>A	8.37:g.70550743C>A	ENSP00000260128:p.Ser764Tyr		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.S764Y	ENST00000260128.4	37	c.2291	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831299	0.71258	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.9	4.9	0.64082	Alkaline-phosphatase-like, core domain (1);	0.344263	0.30762	N	0.008927	T	0.27205	0.0667	L	0.46157	1.445	0.36676	D	0.878785	D	0.57571	0.98	P	0.50440	0.641	T	0.11792	-1.0573	10	0.72032	D	0.01	.	18.6867	0.91567	0.0:1.0:0.0:0.0	.	764	Q8IWU6	SULF1_HUMAN	Y	764	ENSP00000403040:S764Y;ENSP00000260128:S764Y;ENSP00000385704:S764Y;ENSP00000390315:S764Y	ENSP00000260128:S764Y	S	+	2	0	SULF1	70713297	0.958000	0.32768	0.857000	0.33713	0.990000	0.78478	3.093000	0.50217	2.714000	0.92807	0.650000	0.86243	TCT	SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.383	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	618	0.00	0	C	NM_015170		70550743	70550743	+1	no_errors	ENST00000260128	ensembl	human	known	69_37n	missense	448	41.91	329	SNP	0.918	A
TAF1C	9013	genome.wustl.edu	37	16	84217059	84217059	+	Missense_Mutation	SNP	C	C	T	rs567236392		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:84217059C>T	ENST00000567759.1	-	4	457	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000378541.4_Missense_Mutation_p.R92Q|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_Missense_Mutation_p.R25Q|TAF1C_ENST00000566732.1_Missense_Mutation_p.R92Q|TAF1C_ENST00000341690.6_Missense_Mutation_p.R25Q	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	92					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTCCGATACCGGCACCCTCC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		18251	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													28.0	27.0	28.0					16																	84217059		2199	4299	6498	-	-	-	SO:0001583	missense	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.275G>A	16.37:g.84217059C>T	ENSP00000455265:p.Arg92Gln		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.R92Q	ENST00000567759.1	37	c.275	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594441	0.46214	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.43688	0.94;0.94;0.94	4.53	-6.97	0.01616	.	2.807520	0.01074	N	0.004874	T	0.18635	0.0447	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.18166	0.01;0.01;0.026;0.01	B;B;B;B	0.09377	0.002;0.001;0.004;0.003	T	0.12091	-1.0561	10	0.12430	T	0.62	0.8465	3.896	0.09139	0.1267:0.4953:0.1605:0.2175	.	92;92;92;25	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	Q	92;25;25;92	ENSP00000367802:R92Q;ENSP00000437900:R25Q;ENSP00000345305:R25Q	ENSP00000345305:R25Q	R	-	2	0	TAF1C	82774560	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.750000	0.01822	-1.281000	0.02399	-0.768000	0.03414	CGG	TAF1C	-	NULL	ENSG00000103168		0.652	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	132	0.00	0	C	NM_139353		84217059	84217059	-1	no_errors	ENST00000378541	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.000	T
TET3	200424	genome.wustl.edu	37	2	74329151	74329152	+	Frame_Shift_Ins	INS	-	-	G	rs190925009	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:74329151_74329152insG	ENST00000409262.3	+	9	4831_4832	c.4831_4832insG	c.(4831-4833)tggfs	p.W1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCGCAAGTGGGGGGGCACT	0.688																																						dbGAP											0										17,3831		0,17,1907						5.2	1.0			13	13,7927		0,13,3957	no	frameshift	TET3	NM_144993.1		0,30,5864	A1A1,A1R,RR		0.1637,0.4418,0.2545				30,11758				-	-	-	SO:0001589	frameshift_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4838dupG	2.37:g.74329158_74329158dupG	ENSP00000386869:p.Trp1611fs		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Ins	INS	NULL	p.T1614fs	ENST00000409262.3	37	c.4831_4832	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.688	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	18	0.00	0	-			74329151	74329152	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	frame_shift_ins	28	15.15	5	INS	1.000:1.000	G
TFE3	7030	genome.wustl.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P483fs	ENST00000315869.7	37	c.1446_1445	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	115	0.86	1	-	NM_006521		48887951	48887952	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	frame_shift_ins	101	13.68	16	INS	0.035:0.037	C
TRMT2A	27037	genome.wustl.edu	37	22	20103700	20103700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr22:20103700delT	ENST00000252136.7	-	2	848	c.460delA	c.(460-462)aggfs	p.R156fs	TRMT2A_ENST00000439169.2_Frame_Shift_Del_p.R156fs|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Frame_Shift_Del_p.R156fs|TRMT2A_ENST00000404751.3_Frame_Shift_Del_p.R156fs|RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	156	Poly-Arg.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGTCGCCTCCTCCTGGCCATG	0.647																																						dbGAP											0													56.0	53.0	54.0					22																	20103700		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.460delA	22.37:g.20103700delT	ENSP00000252136:p.Arg156fs		D3DX25|Q32P57|Q96ME6|Q9H732	Frame_Shift_Del	DEL	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.R154fs	ENST00000252136.7	37	c.460	CCDS13774.1	22																																																																																			TRMT2A	-	NULL	ENSG00000099899		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	117	0.00	0	T	NM_022727		20103700	20103700	-1	no_errors	ENST00000252136	ensembl	human	known	69_37n	frame_shift_del	1	90.00	9	DEL	1.000	-
CENPT	80152	genome.wustl.edu	37	16	67859154	67859155	+	IGR	INS	-	-	G	rs201031808	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr16:67859154_67859155insG	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Frame_Shift_Ins_p.M265fs|TSNAXIP1_ENST00000388833.3_Frame_Shift_Ins_p.M211fs|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Frame_Shift_Ins_p.M196fs	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCGGGAGGACATGTCATTAGCC	0.54																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859154_67859155insG			Q96I29|Q96IC6|Q96NK9|Q9H901	Frame_Shift_Ins	INS	NULL	p.M211fs	ENST00000562787.1	37	c.631_632	CCDS42182.1	16																																																																																			TSNAXIP1	-	NULL	ENSG00000102904		0.540	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000422020.1	213	0.00	0	-	NM_025082		67859154	67859155	+1	no_errors	ENST00000388833	ensembl	human	known	69_37n	frame_shift_ins	68	30.61	30	INS	1.000:1.000	G
U2AF2	11338	genome.wustl.edu	37	19	56173905	56173906	+	Frame_Shift_Ins	INS	-	-	G	rs149491308		TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:56173905_56173906insG	ENST00000308924.4	+	6	564_565	c.524_525insG	c.(523-528)ctggggfs	p.LG175fs	CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Frame_Shift_Ins_p.LG175fs|U2AF2_ENST00000590551.1_Frame_Shift_Ins_p.LG11fs			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	175	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTGA	0.604																																						dbGAP											0									,	9,4255		0,9,2123					,	4.1	1.0			43	6,8248		0,6,4121	no	frameshift,frameshift	U2AF2	NM_007279.2,NM_001012478.1	,	0,15,6244	A1A1,A1R,RR		0.0727,0.2111,0.1198	,	,		15,12503				-	-	-	SO:0001589	frameshift_variant	0			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.531dupG	19.37:g.56173912_56173912dupG	ENSP00000307863:p.Leu175fs		Q96HC5	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.L178fs	ENST00000308924.4	37	c.524_525	CCDS12933.1	19																																																																																			U2AF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	ENSG00000063244		0.604	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	HGNC	protein_coding	OTTHUMT00000453599.1	126	0.00	0	-	NM_007279		56173905	56173906	+1	no_errors	ENST00000308924	ensembl	human	known	69_37n	frame_shift_ins	37	13.95	6	INS	0.991:0.923	G
USP20	10868	genome.wustl.edu	37	9	132623252	132623253	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr9:132623252_132623253delCC	ENST00000315480.4	+	7	525_526	c.367_368delCC	c.(367-369)cctfs	p.P123fs	USP20_ENST00000358355.1_Frame_Shift_Del_p.P123fs|USP20_ENST00000372429.3_Frame_Shift_Del_p.P123fs			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	123					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAAAGCTGTTCCTATTGCTGTG	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.367_368delCC	9.37:g.132623252_132623253delCC	ENSP00000313811:p.Pro123fs		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.P123fs	ENST00000315480.4	37	c.367_368	CCDS43892.1	9																																																																																			USP20	-	NULL	ENSG00000136878		0.579	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	248	0.00	0	CC			132623252	132623253	+1	no_errors	ENST00000315480	ensembl	human	known	69_37n	frame_shift_del	14	85.83	103	DEL	1.000:1.000	-
CFAP43	80217	genome.wustl.edu	37	10	105953739	105953739	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr10:105953739A>T	ENST00000278064.2	-	11	1445	c.1120T>A	c.(1120-1122)Tct>Act	p.S374T	WDR96_ENST00000428666.1_Missense_Mutation_p.S444T|WDR96_ENST00000357060.3_Missense_Mutation_p.S443T|WDR96_ENST00000369720.1_Missense_Mutation_p.S374T																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGGCTGCAGAGAGGGAGGAT	0.512																																						dbGAP											0													118.0	105.0	110.0					10																	105953739		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000278064.2:c.1120T>A	10.37:g.105953739A>T	ENSP00000278064:p.Ser374Thr			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.S443T	ENST00000278064.2	37	c.1327		10	.	.	.	.	.	.	.	.	.	.	A	2.978	-0.210873	0.06140	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.27720	1.66;1.66;1.66;1.65	4.93	2.47	0.30058	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.455332	0.16453	N	0.213774	T	0.23330	0.0564	L	0.46885	1.475	0.09310	N	1	B;B	0.32365	0.367;0.097	B;B	0.31946	0.138;0.046	T	0.16158	-1.0412	10	0.19590	T	0.45	.	8.0176	0.30389	0.6761:0.0:0.0:0.3239	.	444;443	B4DHB6;Q8NDM7	.;WDR96_HUMAN	T	443;444;374;374	ENSP00000349568:S443T;ENSP00000400289:S444T;ENSP00000278064:S374T;ENSP00000358734:S374T	ENSP00000278064:S374T	S	-	1	0	WDR96	105943729	0.236000	0.23804	0.035000	0.18076	0.222000	0.24845	1.502000	0.35704	0.364000	0.24374	0.528000	0.53228	TCT	WDR96	-	superfamily_WD40_repeat_dom	ENSG00000197748		0.512	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1	55	0.00	0	A			105953739	105953739	-1	no_errors	ENST00000357060	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	0.126	T
WNT7A	7476	genome.wustl.edu	37	3	13896104	13896104	+	Silent	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr3:13896104G>A	ENST00000285018.4	-	3	799	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	165					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CATCCACAAAGACCTTGGCGA	0.612																																						dbGAP											0													109.0	120.0	116.0					3																	13896104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.495C>T	3.37:g.13896104G>A			Q96H90|Q9Y560	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.V165	ENST00000285018.4	37	c.495	CCDS2616.1	3																																																																																			WNT7A	-	pfam_Wnt,smart_Wnt	ENSG00000154764		0.612	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	151	0.00	0	G	NM_004625		13896104	13896104	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	silent	47	65.69	90	SNP	1.000	A
WRAP53	55135	genome.wustl.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1558-1560)gggfs	p.G520fs	WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.G487fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.G520fs|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.G520fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	520					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1564dupG	17.37:g.7606721_7606721dupG	ENSP00000324203:p.Gly520fs		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A521fs	ENST00000316024.5	37	c.1557_1558	CCDS11119.1	17																																																																																			WRAP53	-	NULL	ENSG00000141499		0.599	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	148	0.00	0	-	NM_018081		7606714	7606715	+1	no_errors	ENST00000316024	ensembl	human	known	69_37n	frame_shift_ins	38	15.56	7	INS	1.000:1.000	G
ZNF514	84874	genome.wustl.edu	37	2	95815222	95815223	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr2:95815222_95815223insCG	ENST00000295208.2	-	5	1469_1470	c.1007_1008insCG	c.(1006-1008)agafs	p.R336fs	ZNF514_ENST00000411425.1_Frame_Shift_Ins_p.R336fs|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						CAGTATGAAATCTGTAATGCAC	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.1007_1008insCG	2.37:g.95815222_95815223insCG	ENSP00000295208:p.Arg336fs		Q5JPJ3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R336fs	ENST00000295208.2	37	c.1008_1007	CCDS2011.1	2																																																																																			ZNF514	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144026		0.431	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	409	0.00	0	-	NM_032788		95815222	95815223	-1	no_errors	ENST00000295208	ensembl	human	known	69_37n	frame_shift_ins	236	33.52	119	INS	1.000:1.000	CG
ZNF556	80032	genome.wustl.edu	37	19	2878290	2878290	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr19:2878290G>A	ENST00000307635.2	+	4	1421	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	ZNF556_ENST00000586426.1_Missense_Mutation_p.R444K	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCATGTGAGAAGTCACACA	0.418																																						dbGAP											0													83.0	92.0	89.0					19																	2878290		2199	4298	6497	-	-	-	SO:0001583	missense	0			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1334G>A	19.37:g.2878290G>A	ENSP00000302603:p.Arg445Lys		Q96GM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R445K	ENST00000307635.2	37	c.1334	CCDS12097.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030888	0.35797	.	.	ENSG00000172000	ENST00000307635	T	0.16897	2.31	2.31	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.25094	0.71	0.21064	N	0.999799	P	0.42735	0.788	B	0.41202	0.35	T	0.19063	-1.0317	9	0.44086	T	0.13	.	6.9971	0.24789	0.1612:0.0:0.8388:0.0	.	445	Q9HAH1	ZN556_HUMAN	K	445	ENSP00000302603:R445K	ENSP00000302603:R445K	R	+	2	0	ZNF556	2829290	0.007000	0.16637	0.026000	0.17262	0.057000	0.15508	1.540000	0.36115	1.121000	0.41925	0.205000	0.17691	AGA	ZNF556	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172000		0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	100	0.00	0	G	NM_024967		2878290	2878290	+1	no_errors	ENST00000307635	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.991	A
ZNF831	128611	genome.wustl.edu	37	20	57769139	57769140	+	Frame_Shift_Ins	INS	-	-	G	rs55786258	byFrequency	TCGA-AR-A0TY-01A-12W-A12T-09	TCGA-AR-A0TY-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f915733b-aaf4-406d-af52-00de113e8e0c	f5cfd725-897e-4728-91bc-ba3957d43764	g.chr20:57769139_57769140insG	ENST00000371030.2	+	1	3065_3066	c.3065_3066insG	c.(3064-3069)ttggggfs	p.LG1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCACAGTTGGGGGGGGACA	0.678																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3073dupG	20.37:g.57769147_57769147dupG	ENSP00000360069:p.Leu1022fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1025fs	ENST00000371030.2	37	c.3065_3066	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.678	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	59	0.00	0	-	NM_178457		57769139	57769140	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	frame_shift_ins	20	13.04	3	INS	0.000:0.000	G
