#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTSL1	92949	genome.wustl.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4116_4117insC	c.(4117-4119)ccc>Cccc	p.P1373fs	ADAMTSL1_ENST00000380545.5_Splice_Site_p.P74fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						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)		TTCTCACAGATCCCCCCCAAGT	0.564																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_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.4115-1->C	9.37:g.18829849_18829849dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q75fs	ENST00000380548.4	37	c.219_220	CCDS47954.1	9																																																																																			ADAMTSL1	-	NULL	ENSG00000178031		0.564	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	89	0.00	0	-		Frame_Shift_Ins	18829842	18829843	+1	no_errors	ENST00000388710	ensembl	human	known	69_37n	frame_shift_ins	48	14.29	8	INS	0.998:1.000	C
ALG12	79087	genome.wustl.edu	37	22	50297990	50297991	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:50297990_50297991insG	ENST00000330817.6	-	8	1429_1430	c.1156_1157insC	c.(1156-1158)cagfs	p.Q386fs	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	386					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTGTCTGGGGGGGCACC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1157dupC	22.37:g.50297997_50297997dupG	ENSP00000333813:p.Gln386fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Frame_Shift_Ins	INS	pfam_GPI_mannosylTrfase	p.Q386fs	ENST00000330817.6	37	c.1157_1156	CCDS14081.1	22																																																																																			ALG12	-	NULL	ENSG00000182858		0.644	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	20	0.00	0	-	NM_024105		50297990	50297991	-1	no_errors	ENST00000330817	ensembl	human	known	69_37n	frame_shift_ins	25	21.88	7	INS	0.074:0.002	G
ANAPC4	29945	genome.wustl.edu	37	4	25395932	25395932	+	Splice_Site	SNP	G	G	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr4:25395932G>T	ENST00000315368.3	+	12	1019	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	ANAPC4_ENST00000510092.1_Splice_Site_p.E293*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	293				EKN -> GKD (in Ref. 1; AAF05752). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTTTTCCAGGAAAAGAACAC	0.338																																						dbGAP											0													51.0	53.0	53.0					4																	25395932		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.877-1G>T	4.37:g.25395932G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.E293*	ENST00000315368.3	37	c.877	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.876659	0.97055	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.83	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.3181	14.7793	0.69754	0.0689:0.0:0.9311:0.0	.	.	.	.	X	293	.	.	E	+	1	0	ANAPC4	25005030	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.271000	0.78506	1.484000	0.48361	0.585000	0.79938	GAA	ANAPC4	-	pirsf_APC4_metazoa	ENSG00000053900		0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	65	0.00	0	G	NM_013367	Nonsense_Mutation	25395932	25395932	+1	no_errors	ENST00000510092	ensembl	human	known	69_37n	nonsense	42	41.67	30	SNP	1.000	T
ART5	116969	genome.wustl.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)catfs	p.H227fs	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Frame_Shift_Ins_p.H227fs|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.5																																						dbGAP											0									,	5,4259		0,5,2127					,	6.2	1.0			76	3,8251		0,3,4124	no	frameshift,frameshift	ART5	NM_053017.3,NM_001079536.1	,	0,8,6251	A1A1,A1R,RR		0.0363,0.1173,0.0639	,	,		8,12510				-	-	-	SO:0001589	frameshift_variant	0			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.680dupC	11.37:g.3660986_3660986dupG	ENSP00000380258:p.His227fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYG7|Q6UX84|Q86W02	Frame_Shift_Ins	INS	pfam_ART,prints_ART	p.H227fs	ENST00000397068.3	37	c.680_679	CCDS7743.1	11																																																																																			ART5	-	pfam_ART,prints_ART	ENSG00000167311		0.500	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	37	0.00	0	-	NM_053017		3660979	3660980	-1	no_errors	ENST00000359918	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.986:0.988	G
ASIC4	55515	genome.wustl.edu	37	2	220402687	220402688	+	Frame_Shift_Ins	INS	-	-	G	rs115824877	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:220402687_220402688insG	ENST00000347842.3	+	9	1877_1878	c.1863_1864insG	c.(1864-1866)gggfs	p.G622fs	ASIC4_ENST00000358078.4_Frame_Shift_Ins_p.G641fs	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	622					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GAGTGGAGGGTGGGGGGGTCAG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1870dupG	2.37:g.220402694_220402694dupG	ENSP00000326627:p.Gly622fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Frame_Shift_Ins	INS	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.V623fs	ENST00000347842.3	37	c.1863_1864	CCDS2442.1	2																																																																																			ASIC4	-	NULL	ENSG00000072182		0.629	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1	52	0.00	0	-	NM_018674		220402687	220402688	+1	no_errors	ENST00000347842	ensembl	human	known	69_37n	frame_shift_ins	46	11.54	6	INS	0.959:1.000	G
ATG9B	285973	genome.wustl.edu	37	7	150721217	150721218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:150721217_150721218insG	ENST00000377974.2	-	1	368_369	c.293_294insC	c.(292-294)ccafs	p.P98fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Frame_Shift_Ins_p.P98fs|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.P98fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	98	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.T99fs*50(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTGTGTTGGGGGGGTGGC	0.649																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)								29,3739		0,29,1855						1.5	0.0			19	21,7909		0,21,3944	no	frameshift	ATG9B	NM_173681.5		0,50,5799	A1A1,A1R,RR		0.2648,0.7696,0.4274				50,11648				-	-	-	SO:0001589	frameshift_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.294dupC	7.37:g.150721224_150721224dupG	ENSP00000475005:p.Pro98fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	INS	-	NULL	ENST00000377974.2	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.649	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		15	0.00	0	-	NM_173681		150721217	150721218	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	8	20.00	2	INS	0.001:0.003	G
ATP10D	57205	genome.wustl.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1845)ctggggfs	p.LG614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1848dupG	4.37:g.47559704_47559704dupG	ENSP00000273859:p.Leu614fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L617fs	ENST00000273859.3	37	c.1841_1842	CCDS3476.1	4																																																																																			ATP10D	-	superfamily_HAD-like_dom	ENSG00000145246		0.401	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	24	0.00	0	-	NM_020453		47559697	47559698	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.449:0.439	G
ATP7B	540	genome.wustl.edu	37	13	52511651	52511651	+	Silent	SNP	C	C	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr13:52511651C>T	ENST00000242839.4	-	18	4020	c.3864G>A	c.(3862-3864)acG>acA	p.T1288T	ATP7B_ENST00000344297.5_Silent_p.T1081T|ATP7B_ENST00000448424.2_Silent_p.T1210T|ATP7B_ENST00000400370.3_Silent_p.T858T|ATP7B_ENST00000418097.2_Silent_p.T1223T|ATP7B_ENST00000400366.3_Silent_p.T1177T|ATP7B_ENST00000417240.2_Silent_p.T499T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1288			Missing (in WD). {ECO:0000269|PubMed:9222767}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGGCCACATCCGTGCCGGTGC	0.627									Wilson disease																													dbGAP											0													57.0	66.0	63.0					13																	52511651		2115	4221	6336	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3864G>A	13.37:g.52511651C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.T1288	ENST00000242839.4	37	c.3864	CCDS41892.1	13																																																																																			ATP7B	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000123191		0.627	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	57	0.00	0	C	NM_000053		52511651	52511651	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	silent	32	15.79	6	SNP	0.161	T
AXL	558	genome.wustl.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(868-870)cccfs	p.P290fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.P290fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.P22fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.874dupC	19.37:g.41743939_41743939dupC	ENSP00000301178:p.Pro290fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5L2|Q9UD27	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H291fs	ENST00000301178.4	37	c.867_868	CCDS12575.1	19																																																																																			AXL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000167601		0.649	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	60	0.00	0	-			41743932	41743933	+1	no_errors	ENST00000301178	ensembl	human	known	69_37n	frame_shift_ins	122	12.23	17	INS	0.982:1.000	C
BARHL2	343472	genome.wustl.edu	37	1	91182376	91182377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:91182376_91182377insG	ENST00000370445.4	-	1	417_418	c.376_377insC	c.(376-378)cagfs	p.Q126fs		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	126	Gln/Pro-rich.				cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCCCAGCTGCTGGGGGggcggc	0.693																																					GBM(199;3561 4100 22440)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.377dupC	1.37:g.91182383_91182383dupG	ENSP00000359474:p.Gln126fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVP2|Q7Z4N7	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q126fs	ENST00000370445.4	37	c.377_376	CCDS730.1	1																																																																																			BARHL2	-	NULL	ENSG00000143032		0.693	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	13	0.00	0	-			91182376	91182377	-1	no_errors	ENST00000370445	ensembl	human	known	69_37n	frame_shift_ins	7	36.36	4	INS	0.999:1.000	G
BAX	581	genome.wustl.edu	37	19	49458970	49458971	+	Frame_Shift_Ins	INS	-	-	G	rs141306106|rs398122842|rs398122841|rs398122840		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:49458970_49458971insG	ENST00000345358.7	+	3	165_166	c.113_114insG	c.(112-117)atggggfs	p.MG38fs	BAX_ENST00000415969.2_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000391871.3_Frame_Shift_Ins_p.W21fs|BAX_ENST00000539787.1_Frame_Shift_Ins_p.MG38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)							,,,	38,4226		0,38,2094					,,,	4.0	0.3			58	42,8212		0,42,4085	no	frameshift,intron,frameshift,frameshift	BAX	NM_138764.4,NM_138763.3,NM_138761.3,NM_004324.3	,,,	0,80,6179	A1A1,A1R,RR		0.5088,0.8912,0.6391	,,,	,,,		80,12438				-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.121dupG	19.37:g.49458978_49458978dupG	ENSP00000263262:p.Met38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.113_114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.594	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	46	0.00	0	-	NM_138763		49458970	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_ins	9	30.77	4	INS	0.585:0.588	G
BMP1	649	genome.wustl.edu	37	8	22054259	22054260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:22054259_22054260insC	ENST00000306385.5	+	14	2502_2503	c.1832_1833insC	c.(1831-1836)taccccfs	p.YP611fs	BMP1_ENST00000397816.3_Frame_Shift_Ins_p.YP611fs|BMP1_ENST00000306349.8_Frame_Shift_Ins_p.YP611fs|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	611	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1839dupC	8.37:g.22054266_22054266dupC	ENSP00000305714:p.Tyr611fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Ins	INS	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.N614fs	ENST00000306385.5	37	c.1832_1833	CCDS6026.1	8																																																																																			BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000168487		0.604	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	47	0.00	0	-	NM_006132		22054259	22054260	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	frame_shift_ins	23	14.81	4	INS	1.000:1.000	C
BPIFB4	149954	genome.wustl.edu	37	20	31671213	31671214	+	Frame_Shift_Ins	INS	-	-	C	rs139974951|rs541992483	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	23	0.00	0	-	NM_182519		31671213	31671214	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	frame_shift_ins	23	30.30	10	INS	0.020:0.030	C
BRD8	10902	genome.wustl.edu	37	5	137505020	137505021	+	Frame_Shift_Ins	INS	-	-	G	rs150525307|rs141690527	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr5:137505020_137505021insG	ENST00000254900.5	-	8	903_904	c.532_533insC	c.(532-534)cggfs	p.R178fs	BRD8_ENST00000455658.2_Frame_Shift_Ins_p.R137fs|BRD8_ENST00000402931.1_Frame_Shift_Ins_p.R178fs|BRD8_ENST00000411594.2_Frame_Shift_Ins_p.R178fs|BRD8_ENST00000230901.5_Frame_Shift_Ins_p.R178fs	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	178					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.R178Q(1)|p.R178fs*20(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTAACCTCCGGGGGGGTGTT	0.441																																						dbGAP											2	Substitution - Missense(1)|Insertion - Frameshift(1)	lung(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.533dupC	5.37:g.137505027_137505027dupG	ENSP00000254900:p.Arg178fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Frame_Shift_Ins	INS	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R178fs	ENST00000254900.5	37	c.533_532	CCDS4198.1	5																																																																																			BRD8	-	NULL	ENSG00000112983		0.441	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	55	0.00	0	-	NM_006696		137505020	137505021	-1	no_errors	ENST00000254900	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	1.000:1.000	G
ERICH4	100170765	genome.wustl.edu	37	19	41949131	41949132	+	Frame_Shift_Ins	INS	-	-	C	rs567420399	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:41949131_41949132insC	ENST00000378187.2	+	1	69_70	c.57_58insC	c.(58-60)cccfs	p.P20fs		NM_001130514.1	NP_001123986.1	A6NGS2	ERIC4_HUMAN		20																	GGCTGGGCCCACCCCCCCAGGC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000378187.2:c.64dupC	19.37:g.41949138_41949138dupC	ENSP00000367429:p.Pro20fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.Q21fs	ENST00000378187.2	37	c.57_58	CCDS46085.1	19																																																																																			C19orf69	-	NULL	ENSG00000204978		0.634	C19orf69-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf69	HGNC	protein_coding		52	0.00	0	-			41949131	41949132	+1	no_errors	ENST00000378187	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.996:0.991	C
C2CD4D	100191040	genome.wustl.edu	37	1	151810572	151810573	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:151810572_151810573insG	ENST00000454109.1	-	2	1478_1479	c.893_894insC	c.(892-894)ccgfs	p.P298fs		NM_001136003.1	NP_001129475.1	B7Z1M9	C2D4D_HUMAN	C2 calcium-dependent domain containing 4D	298	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.									skin(1)	1						CGGCCAGGTCCGGGGGGCCGAG	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC171843	CCDS44224.1	1q21.3	2012-07-02			ENSG00000225556	ENSG00000225556			37210	protein-coding gene	gene with protein product	"""family with sequence similarity 148, member D"""						Standard	NM_001136003		Approved	FAM148D	uc010pdq.1	B7Z1M9	OTTHUMG00000167218	ENST00000454109.1:c.894dupC	1.37:g.151810578_151810578dupG	ENSP00000389554:p.Pro298fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG8	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D299fs	ENST00000454109.1	37	c.894_893	CCDS44224.1	1																																																																																			C2CD4D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000225556		0.698	C2CD4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD4D	HGNC	protein_coding	OTTHUMT00000393778.1	27	0.00	0	-	NM_001136003		151810572	151810573	-1	no_errors	ENST00000454109	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.000:0.001	G
C9orf91	203197	genome.wustl.edu	37	9	117379520	117379521	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:117379520_117379521insC	ENST00000288502.4	+	2	482_483	c.45_46insC	c.(46-48)cccfs	p.P16fs	C9orf91_ENST00000374049.4_Frame_Shift_Ins_p.P16fs|AL160275.1_ENST00000606438.1_RNA|Y_RNA_ENST00000364879.1_RNA|C9orf91_ENST00000471206.1_3'UTR			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	16						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CTGGCCCATTGCCCCCCTCCTC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.51dupC	9.37:g.117379526_117379526dupC	ENSP00000288502:p.Pro16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Frame_Shift_Ins	INS	NULL	p.S17fs	ENST00000288502.4	37	c.45_46	CCDS6808.1	9																																																																																			C9orf91	-	NULL	ENSG00000157693		0.609	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	30	0.00	0	-	NM_153045		117379520	117379521	+1	no_errors	ENST00000374049	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.659:0.671	C
CAPN1	823	genome.wustl.edu	37	11	64956194	64956195	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:64956194_64956195insG	ENST00000527323.1	+	9	1382_1383	c.1142_1143insG	c.(1141-1146)gcggggfs	p.AG381fs	CAPN1_ENST00000524773.1_Frame_Shift_Ins_p.AG381fs|CAPN1_ENST00000533820.1_Frame_Shift_Ins_p.AG381fs|CAPN1_ENST00000279247.6_Frame_Shift_Ins_p.AG381fs|CAPN1_ENST00000533129.1_Frame_Shift_Ins_p.AG381fs			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	381	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGGAGCACCGCGGGGGGCTGCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1148dupG	11.37:g.64956200_64956200dupG	ENSP00000431984:p.Ala381fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TTR0|Q6DHV4	Frame_Shift_Ins	INS	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.C384fs	ENST00000527323.1	37	c.1142_1143	CCDS44644.1	11																																																																																			CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease	ENSG00000014216		0.644	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	25	0.00	0	-			64956194	64956195	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.999:0.677	G
CCDC74A	90557	genome.wustl.edu	37	2	132287109	132287110	+	Intron	INS	-	-	G	rs148172431|rs560072033|rs542783411	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:132287109_132287110insG	ENST00000295171.6	+	2	388				CCDC74A_ENST00000478665.1_Intron|CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Intron	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A											endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AATCAGCCAGTGGGGGGGCAGG	0.624													ggggggg|GGGGGGG|GGGGGGGG|insertion	4	0.000798722	0.0008	0.0	5008	,	,		18422	0.002		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.251-110->G	2.37:g.132287116_132287116dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4I5	Frame_Shift_Ins	INS	NULL	p.Q45fs	ENST00000295171.6	37	c.125_126	CCDS2167.1	2																																																																																			CCDC74A	-	NULL	ENSG00000163040		0.624	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	46	0.00	0	-	NM_138770		132287109	132287110	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434330	ensembl	human	putative	69_37n	frame_shift_ins	10	16.67	2	INS	0.000:0.000	G
CCT8L2	150160	genome.wustl.edu	37	22	17073281	17073281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:17073281delG	ENST00000359963.3	-	1	419	c.160delC	c.(160-162)cacfs	p.H54fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	54					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCGGCCGTGGGGGCCATAG	0.647																																						dbGAP											0													66.0	68.0	67.0					22																	17073281		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.160delC	22.37:g.17073281delG	ENSP00000353048:p.His54fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPH3|Q9UJS3	Frame_Shift_Del	DEL	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1	p.H54fs	ENST00000359963.3	37	c.160	CCDS13738.1	22																																																																																			CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1	ENSG00000198445		0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	51	0.00	0	G			17073281	17073281	-1	no_errors	ENST00000359963	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.849	-
CDHR2	54825	genome.wustl.edu	37	5	176003133	176003134	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr5:176003133_176003134insC	ENST00000510636.1	+	12	1415_1416	c.1141_1142insC	c.(1141-1143)tccfs	p.S381fs	CDHR2_ENST00000506348.1_Frame_Shift_Ins_p.S381fs|CDHR2_ENST00000261944.5_Frame_Shift_Ins_p.S381fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGAGCATGCCTCCCCCCGCATC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1147dupC	5.37:g.176003139_176003139dupC	ENSP00000424565:p.Ser381fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R383fs	ENST00000510636.1	37	c.1141_1142	CCDS34297.1	5																																																																																			CDHR2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000074276		0.639	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	38	0.00	0	-	NM_017675		176003133	176003134	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	0.404:0.405	C
CECR2	27443	genome.wustl.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.N799fs	ENST00000400585.2	37	c.2387_2388		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	30	0.00	0	-	NM_031413		18022285	18022286	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	frame_shift_ins	21	16.00	4	INS	0.580:0.581	C
CELSR3	1951	genome.wustl.edu	37	3	48689914	48689915	+	Frame_Shift_Ins	INS	-	-	G	rs201091047		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr3:48689914_48689915insG	ENST00000164024.4	-	11	5986_5987	c.5706_5707insC	c.(5704-5709)cccggcfs	p.G1903fs	CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.G1903fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1903	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGCACTGCCGGGGGGCAGGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5707dupC	3.37:g.48689920_48689920dupG	ENSP00000164024:p.Gly1903fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G1902fs	ENST00000164024.4	37	c.5707_5706	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000008300		0.629	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	34	0.00	0	-	NM_001407		48689914	48689915	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	0.002:0.001	G
CHD4	1108	genome.wustl.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	dbGAP											3	Deletion - In frame(3)	central_nervous_system(3)								115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				-	-	-	SO:0001651	inframe_deletion	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	In_Frame_Del	DEL	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K119in_frame_del	ENST00000357008.2	37	c.357_355	CCDS8552.1	12																																																																																			CHD4	-	NULL	ENSG00000111642		0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		22	0.00	0	CTT	NM_001273		6711207	6711209	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	in_frame_del	13	23.53	4	DEL	0.999:1.000:1.000	-
CLPP	8192	genome.wustl.edu	37	19	6361606	6361607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:6361606_6361607insG	ENST00000245816.4	+	1	144_145	c.21_22insG	c.(22-24)gggfs	p.G8fs	CLPP_ENST00000596149.1_5'Flank|CLPP_ENST00000596605.1_5'Flank|CTB-180A7.3_ENST00000595644.1_RNA	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	8					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GAATATTGGTAGGGGGGGCCCG	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.28dupG	19.37:g.6361613_6361613dupG	ENSP00000245816:p.Gly8fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4W5	Frame_Shift_Ins	INS	pfam_ClpP/TepA,prints_ClpP	p.A9fs	ENST00000245816.4	37	c.21_22	CCDS12162.1	19																																																																																			CLPP	-	NULL	ENSG00000125656		0.713	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPP	HGNC	protein_coding	OTTHUMT00000452984.1	18	0.00	0	-	NM_006012		6361606	6361607	+1	no_errors	ENST00000245816	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.000:0.003	G
CLSTN1	22883	genome.wustl.edu	37	1	9804665	9804665	+	Frame_Shift_Del	DEL	G	G	-	rs573501912		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:9804665delG	ENST00000377298.4	-	8	1814	c.1022delC	c.(1021-1023)ccgfs	p.P341fs	CLSTN1_ENST00000361311.4_Frame_Shift_Del_p.P331fs|CLSTN1_ENST00000377288.3_Frame_Shift_Del_p.P341fs	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	341					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGATCCACTCGGGGATGGCAG	0.652																																						dbGAP											0													56.0	40.0	46.0					1																	9804665		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1022delC	1.37:g.9804665delG	ENSP00000366513:p.Pro341fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P341fs	ENST00000377298.4	37	c.1022	CCDS30580.1	1																																																																																			CLSTN1	-	superfamily_ConA-like_lec_gl	ENSG00000171603		0.652	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	33	0.00	0	G			9804665	9804665	-1	no_errors	ENST00000377298	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
CNKSR1	10256	genome.wustl.edu	37	1	26514777	26514778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:26514777_26514778insC	ENST00000374253.5	+	17	1567_1568	c.1528_1529insC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_ENST00000531191.1_Frame_Shift_Ins_p.A245fs|CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.A503fs|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCGGGCCCCCCCACCC	0.604																																					NSCLC(180;1396 2109 28270 30756 34275)	dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1535dupC	1.37:g.26514784_26514784dupC	ENSP00000363371:p.Ala510fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMW9|O95381	Frame_Shift_Ins	INS	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P513fs	ENST00000374253.5	37	c.1528_1529		1																																																																																			CNKSR1	-	NULL	ENSG00000142675		0.604	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	90	0.00	0	-	NM_006314		26514777	26514778	+1	no_errors	ENST00000374253	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	0.000:0.000	C
CNOT3	4849	genome.wustl.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.P244fs	ENST00000406403.1	37	c.724_725	CCDS12880.1	19																																																																																			CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	69	0.00	0	-	NM_014516		54649666	54649667	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	frame_shift_ins	121	17.12	25	INS	1.000:1.000	C
COL4A4	1286	genome.wustl.edu	37	2	227896715	227896715	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:227896715G>A	ENST00000396625.3	-	40	3970	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1255S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1255	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCGGGTCAGGAATGTCCTTA	0.517																																						dbGAP											0													48.0	51.0	50.0					2																	227896715		1898	4126	6024	-	-	-	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3763C>T	2.37:g.227896715G>A	ENSP00000379866:p.Pro1255Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1255S	ENST00000396625.3	37	c.3763	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604497	0.03717	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96802	-4.13;-2.64	5.43	4.55	0.56014	.	.	.	.	.	D	0.90055	0.6894	N	0.12182	0.205	0.44595	D	0.997569	B	0.23937	0.094	B	0.28709	0.093	D	0.85158	0.0990	9	0.20519	T	0.43	.	9.1291	0.36835	0.0971:0.0:0.9029:0.0	.	1255	P53420	CO4A4_HUMAN	S	1255	ENSP00000379866:P1255S;ENSP00000328553:P1255S	ENSP00000328553:P1255S	P	-	1	0	COL4A4	227604959	1.000000	0.71417	0.982000	0.44146	0.012000	0.07955	1.947000	0.40293	2.569000	0.86673	0.603000	0.83216	CCT	COL4A4	-	NULL	ENSG00000081052		0.517	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	36	0.00	0	G	NM_000092		227896715	227896715	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	0.892	A
COL5A1	1289	genome.wustl.edu	37	9	137642389	137642390	+	Splice_Site	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:137642389_137642390insC	ENST00000371817.3	+	12	1910_1911	c.1496_1497insC	c.(1495-1500)ggcccc>ggCcccc	p.GP499fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	499	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P501fs*57(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGTCTTCAGGGCCCCCCTGGAC	0.663																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001630	splice_region_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1495-1->C	9.37:g.137642395_137642395dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G502fs	ENST00000371817.3	37	c.1496_1497	CCDS6982.1	9																																																																																			COL5A1	-	pfam_Collagen	ENSG00000130635		0.663	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	53	0.00	0	-	NM_000093	Frame_Shift_Ins	137642389	137642390	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
CRAT	1384	genome.wustl.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)gggaagfs	p.K166fs	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.496dupG	9.37:g.131864820_131864820dupC	ENSP00000315013:p.Lys166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T952|Q9BW16	Frame_Shift_Ins	INS	pfam_Carn_acyl_trans	p.K165fs	ENST00000318080.2	37	c.496_495	CCDS6919.1	9																																																																																			CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.609	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	64	0.00	0	-			131864813	131864814	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.909:0.127	C
CRTC1	23373	genome.wustl.edu	37	19	18879553	18879554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:18879553_18879554insC	ENST00000321949.8	+	10	1296_1297	c.1270_1271insC	c.(1270-1272)tccfs	p.S424fs	CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.S440fs|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.S383fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCTCCCCCAGTCCCCCCCAGAG	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1277dupC	19.37:g.18879560_18879560dupC	ENSP00000323332:p.Ser424fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.E443fs	ENST00000321949.8	37	c.1318_1319	CCDS32963.1	19																																																																																			CRTC1	-	NULL	ENSG00000105662		0.703	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	19	0.00	0	-	NM_025021		18879553	18879554	+1	no_errors	ENST00000338797	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	1.000:1.000	C
CYB5R4	51167	genome.wustl.edu	37	6	84569561	84569562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr6:84569561_84569562insG	ENST00000369681.5	+	1	200_201	c.60_61insG	c.(61-63)gggfs	p.G21fs	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	21					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GTGTCGCCTCCGGGGGGCGTAG	0.678											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(86;1289 1332 25971 40349 52675)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.66dupG	6.37:g.84569567_84569567dupG	ENSP00000358695:p.Gly21fs	Somatic	1230	WXS	Illumina GAIIx	Phase_IV	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Frame_Shift_Ins	INS	pfam_Cyt_B5,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_domain,superfamily_Cyt_B5,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Cyt_B5,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5	p.R22fs	ENST00000369681.5	37	c.60_61	CCDS5000.2	6																																																																																			CYB5R4	-	NULL	ENSG00000065615		0.678	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	HGNC	protein_coding	OTTHUMT00000041362.4	34	0.00	0	-	NM_016230		84569561	84569562	+1	no_errors	ENST00000369681	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.753:0.969	G
DHX9	1660	genome.wustl.edu	37	1	182811768	182811768	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:182811768A>G	ENST00000367549.3	+	2	177	c.67A>G	c.(67-69)Att>Gtt	p.I23V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	23	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATCCTATGAAATTAGAGCAGT	0.378																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													108.0	100.0	103.0					1																	182811768		1857	4091	5948	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.67A>G	1.37:g.182811768A>G	ENSP00000356520:p.Ile23Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.I23V	ENST00000367549.3	37	c.67	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876817	0.33162	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.75938	-0.98	5.47	4.31	0.51392	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.054030	0.64402	D	0.000002	T	0.51346	0.1669	N	0.05078	-0.115	0.51767	D	0.999937	B	0.14805	0.011	B	0.20184	0.028	T	0.38415	-0.9662	10	0.15066	T	0.55	.	11.0113	0.47665	0.8601:0.0:0.0:0.1399	.	23	Q08211	DHX9_HUMAN	V	23	ENSP00000356520:I23V	ENSP00000356520:I23V	I	+	1	0	DHX9	181078391	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.442000	0.73443	0.973000	0.38340	0.533000	0.62120	ATT	DHX9	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000135829		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	99	0.00	0	A	NM_030588		182811768	182811768	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	93	62.50	155	SNP	1.000	G
DLX3	1747	genome.wustl.edu	37	17	48068892	48068892	+	Frame_Shift_Del	DEL	C	C	-	rs148713638	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:48068892delC	ENST00000434704.2	-	3	1078	c.853delG	c.(853-855)gctfs	p.A285fs	DLX3_ENST00000512495.2_Frame_Shift_Del_p.A165fs	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	285					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGTACACAGCCCCAGGGTTG	0.647																																						dbGAP											0													14.0	16.0	15.0					17																	48068892		2195	4282	6477	-	-	-	SO:0001589	frameshift_variant	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.853delG	17.37:g.48068892delC	ENSP00000389870:p.Ala285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQL6	Frame_Shift_Del	DEL	pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.A285fs	ENST00000434704.2	37	c.853	CCDS11556.1	17																																																																																			DLX3	-	NULL	ENSG00000064195		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	28	0.00	0	C			48068892	48068892	-1	no_errors	ENST00000434704	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
DNM2	1785	genome.wustl.edu	37	19	10940881	10940882	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:10940881_10940882insC	ENST00000355667.6	+	20	2450_2451	c.2370_2371insC	c.(2371-2373)cccfs	p.P791fs	DNM2_ENST00000359692.6_Frame_Shift_Ins_p.P787fs|DNM2_ENST00000389253.4_Frame_Shift_Ins_p.P791fs|DNM2_ENST00000408974.4_Frame_Shift_Ins_p.P787fs|DNM2_ENST00000585892.1_Frame_Shift_Ins_p.P791fs|DNM2_ENST00000314646.5_Frame_Shift_Ins_p.P791fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	791	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACTCCAGGGCCCCCCCTGAT	0.693			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2377dupC	19.37:g.10940888_10940888dupC	ENSP00000347890:p.Pro791fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Ins	INS	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.L792fs	ENST00000355667.6	37	c.2370_2371	CCDS45968.1	19																																																																																			DNM2	-	NULL	ENSG00000079805		0.693	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	40	0.00	0	-	NM_004945		10940881	10940882	+1	no_errors	ENST00000314646	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	0.894:1.000	C
EID2B	126272	genome.wustl.edu	37	19	40023339	40023340	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:40023339_40023340insC	ENST00000326282.4	-	1	154_155	c.103_104insG	c.(103-105)gcafs	p.A35fs	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCGCCGACTGCCCCCCGCAGT	0.728																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.104dupG	19.37:g.40023345_40023345dupC	ENSP00000317564:p.Ala35fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.A35fs	ENST00000326282.4	37	c.104_103	CCDS12539.1	19																																																																																			EID2B	-	NULL	ENSG00000176401		0.728	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID2B	HGNC	protein_coding	OTTHUMT00000464961.1	9	0.00	0	-	NM_152361		40023339	40023340	-1	no_errors	ENST00000326282	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.002:0.003	C
COL26A1	136227	genome.wustl.edu	37	7	101187315	101187316	+	RNA	INS	-	-	C	rs377572973		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:101187315_101187316insC	ENST00000397927.3	+	0	854_855				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGCCTGCAGGCCCCCCCGGGT	0.653																																						dbGAP											0																																										-	-	-			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101187322_101187322dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M90	Frame_Shift_Ins	INS	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.G217fs	ENST00000397927.3	37	c.641_642		7																																																																																			EMID2	-	pfam_Collagen	ENSG00000160963		0.653	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	26	0.00	0	-	NM_133457		101187315	101187316	+1	no_errors	ENST00000313669	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.985:0.708	C
ERCC6	2074	genome.wustl.edu	37	10	50690757	50690758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr10:50690757_50690758insC	ENST00000355832.5	-	10	2222_2223	c.2144_2145insG	c.(2143-2145)ggafs	p.G715fs	ERCC6_ENST00000542458.1_Frame_Shift_Ins_p.G85fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	715					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTTGAATATCCCCCCATGGT	0.421								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0			GRCh37	CD982622	ERCC6	D																																				-	-	-	SO:0001589	frameshift_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2145dupG	10.37:g.50690763_50690763dupC	ENSP00000348089:p.Gly715fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y716fs	ENST00000355832.5	37	c.2145_2144	CCDS7229.1	10																																																																																			ERCC6	-	pfam_SNF2_N	ENSG00000225830		0.421	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	46	0.00	0	-	NM_000124		50690757	50690758	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.736:1.000	C
FAM178B	51252	genome.wustl.edu	37	2	97636500	97636501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:97636500_97636501insC	ENST00000417561.3	-	8	1021_1022	c.1022_1023insG	c.(1021-1023)ggcfs	p.G341fs	FAM178B_ENST00000490605.2_Frame_Shift_Ins_p.G193fs|FAM178B_ENST00000327896.3_Frame_Shift_Ins_p.G161fs			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	341										large_intestine(1)|ovary(1)	2						AGCTTCCTGAGCCCCCCCAGGA	0.475																																						dbGAP											0										4,2198		0,4,1097						2.7	0.0			61	9,4447		1,7,2220	no	frameshift	FAM178B	NM_001122646.2		1,11,3317	A1A1,A1R,RR		0.202,0.1817,0.1953				13,6645				-	-	-	SO:0001589	frameshift_variant	0			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.1023dupG	2.37:g.97636507_97636507dupC	ENSP00000413245:p.Gly341fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Frame_Shift_Ins	INS	NULL	p.S342fs	ENST00000417561.3	37	c.1023_1022		2																																																																																			FAM178B	-	NULL	ENSG00000168754		0.475	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		50	0.00	0	-	NM_016490		97636500	97636501	-1	no_errors	ENST00000417561	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	0.024:0.001	C
STRIP1	85369	genome.wustl.edu	37	1	110585774	110585775	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:110585774_110585775insC	ENST00000369795.3	+	9	972_973	c.950_951insC	c.(949-954)ctccccfs	p.LP317fs	STRIP1_ENST00000369796.1_Frame_Shift_Ins_p.LP222fs	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	317					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											ATCCTGGGCCTCCCCCCGCTTC	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.956dupC	1.37:g.110585780_110585780dupC	ENSP00000358810:p.Leu317fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Frame_Shift_Ins	INS	pfam_DUF3402,pfam_N1221	p.L320fs	ENST00000369795.3	37	c.950_951	CCDS30798.1	1																																																																																			FAM40A	-	pfam_N1221	ENSG00000143093		0.574	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40A	HGNC	protein_coding	OTTHUMT00000032213.1	40	0.00	0	-	NM_033088		110585774	110585775	+1	no_errors	ENST00000369795	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.999:0.006	C
FAM92B	339145	genome.wustl.edu	37	16	85135924	85135924	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr16:85135924delA	ENST00000539556.1	-	7	702	c.547delT	c.(547-549)tgtfs	p.C183fs		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	183										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						ACAAAGTCACAAAAAAATTTC	0.507																																						dbGAP											0													57.0	57.0	57.0					16																	85135924		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.547delT	16.37:g.85135924delA	ENSP00000443411:p.Cys183fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_FAM92	p.C183fs	ENST00000539556.1	37	c.547	CCDS32500.1	16																																																																																			FAM92B	-	pfam_FAM92	ENSG00000153789		0.507	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		47	0.00	0	A	NM_198491		85135924	85135924	-1	no_errors	ENST00000539556	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.000	-
FAT2	2196	genome.wustl.edu	37	5	150905451	150905452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr5:150905451_150905452insG	ENST00000261800.5	-	17	10395_10396	c.10383_10384insC	c.(10381-10386)ccctacfs	p.Y3462fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3462	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAACGAGTAGGGGGGGCCAT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10384dupC	5.37:g.150905458_150905458dupG	ENSP00000261800:p.Tyr3462fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y3461fs	ENST00000261800.5	37	c.10384_10383	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.584	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	44	0.00	0	-	NM_001447		150905451	150905452	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	frame_shift_ins	24	14.29	4	INS	1.000:0.841	G
FBXW9	84261	genome.wustl.edu	37	19	12800973	12800974	+	Frame_Shift_Ins	INS	-	-	C	rs202013059	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:12800973_12800974insC	ENST00000380339.3	-	6	960_961	c.924_925insG	c.(922-927)gggcctfs	p.P309fs	CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Frame_Shift_Ins_p.P299fs|FBXW9_ENST00000393261.3_Intron|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	309					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.925dupG	19.37:g.12800981_12800981dupC	ENSP00000369696:p.Pro309fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP7|Q9BT89	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P308fs	ENST00000380339.3	37	c.925_924		19																																																																																			FBXW9	-	superfamily_WD40_repeat_dom	ENSG00000132004		0.624	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		35	0.00	0	-	NM_032301		12800973	12800974	-1	no_errors	ENST00000380339	ensembl	human	known	69_37n	frame_shift_ins	48	15.79	9	INS	0.001:0.002	C
MROH5	389690	genome.wustl.edu	37	8	142506589	142506590	+	RNA	INS	-	-	G	rs374529732	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:142506589_142506590insG	ENST00000430863.1	-	0	172_173					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		ATGTGGAGACAGGGGGGGAGAT	0.554																																						dbGAP											0																																										-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506596_142506596dupG		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.V32fs	ENST00000430863.1	37	c.93_92		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.554	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	105	0.00	0	-	NM_207414		142506589	142506590	-1	pseudogene	ENST00000430863	ensembl	human	known	69_37n	frame_shift_ins	63	11.27	8	INS	0.000:0.000	G
FLT3LG	2323	genome.wustl.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		FLT3LG_ENST00000204637.2_Splice_Site|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000595510.1_Splice_Site	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																						dbGAP											1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)																																								-	-	-	SO:0001630	splice_region_variant	0			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1->C	19.37:g.49982174_49982174dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVC2|B9EGH2|Q05C96	Frame_Shift_Ins	INS	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.S118fs	ENST00000594009.1	37	c.344_343	CCDS12767.1	19																																																																																			FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	36	0.00	0	-		Intron	49982165	49982166	+1	no_errors	ENST00000204637	ensembl	human	known	69_37n	frame_shift_ins	16	20.00	4	INS	1.000:1.000	C
FNDC4	64838	genome.wustl.edu	37	2	27717516	27717517	+	Frame_Shift_Ins	INS	-	-	G	rs375116041		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:27717516_27717517insG	ENST00000264703.3	-	2	421_422	c.30_31insC	c.(28-33)cccagcfs	p.S11fs	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGGAGTCCGCTGGGGGGGGAAC	0.649																																						dbGAP											1	Insertion - Frameshift(1)	liver(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.31dupC	2.37:g.27717524_27717524dupG	ENSP00000264703:p.Ser11fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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	18	0.00	0	-	NM_022823		27717516	27717517	-1	no_errors	ENST00000264703	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.989:0.915	G
FOXM1	2305	genome.wustl.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2009dupC	12.37:g.2968094_2968094dupG	ENSP00000352901:p.Leu670fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L708fs	ENST00000359843.3	37	c.2123_2122	CCDS8515.1	12																																																																																			FOXM1	-	NULL	ENSG00000111206		0.579	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	47	0.00	0	-	NM_021953		2968087	2968088	-1	no_errors	ENST00000342628	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	1.000:1.000	G
FOXN1	8456	genome.wustl.edu	37	17	26862048	26862049	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:26862048_26862049insC	ENST00000226247.2	+	7	1488_1489	c.1459_1460insC	c.(1459-1461)accfs	p.T487fs	FOXN1_ENST00000579795.1_Frame_Shift_Ins_p.T487fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	487					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCAGCCAGGCACCCCCCAGGAC	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1465dupC	17.37:g.26862054_26862054dupC	ENSP00000226247:p.Thr487fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q7|O15352	Frame_Shift_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q489fs	ENST00000226247.2	37	c.1459_1460	CCDS11232.1	17																																																																																			FOXN1	-	NULL	ENSG00000109101		0.683	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	19	0.00	0	-			26862048	26862049	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:1.000	C
GALR2	8811	genome.wustl.edu	37	17	74073099	74073099	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:74073099delC	ENST00000329003.3	+	2	841	c.751delC	c.(751-753)cccfs	p.P251fs	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	251					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTGCTGGATGCCCCACCACGC	0.682																																						dbGAP											0													36.0	37.0	36.0					17																	74073099		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.751delC	17.37:g.74073099delC	ENSP00000329684:p.Pro251fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JUU4|Q32MN8	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.H252fs	ENST00000329003.3	37	c.751	CCDS11739.1	17																																																																																			GALR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182687		0.682	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	12	0.00	0	C			74073099	74073099	+1	no_errors	ENST00000329003	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
GATA3	2625	genome.wustl.edu	37	10	8111496	8111497	+	Frame_Shift_Ins	INS	-	-	GGAG			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr10:8111496_8111497insGGAG	ENST00000346208.3	+	5	1437_1438	c.982_983insGGAG	c.(982-984)tggfs	p.-330fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.-331fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3						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						AACCACACTCTGGAGGAGGAAT	0.545			"""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.983_986dupGGAG	10.37:g.8111497_8111500dupGGAG	ENSP00000341619:p.Arg330fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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.R331fs	ENST00000346208.3	37	c.985_986	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.545	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	79	0.00	0	-	NM_001002295		8111496	8111497	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	35	27.08	13	INS	1.000:1.000	GGAG
GLI3	2737	genome.wustl.edu	37	7	42004243	42004244	+	Frame_Shift_Ins	INS	-	-	T	rs138100963		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:42004243_42004244insT	ENST00000395925.3	-	15	4511_4512	c.4427_4428insA	c.(4426-4428)aacfs	p.N1476fs	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1476					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTAACTCAGAGTTTTTGGCGCT	0.52									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											0			GRCh37	CD050882	GLI3	D	rs138100963																																			-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4428dupA	7.37:g.42004248_42004248dupT	ENSP00000379258:p.Asn1476fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N1476fs	ENST00000395925.3	37	c.4428_4427	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.520	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	43	0.00	0	-	NM_000168		42004243	42004244	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:0.993	T
GLYR1	84656	genome.wustl.edu	37	16	4862228	4862229	+	Frame_Shift_Ins	INS	-	-	C	rs533332243		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr16:4862228_4862229insC	ENST00000321919.9	-	13	1216_1217	c.1140_1141insG	c.(1138-1143)gggcgcfs	p.R381fs	GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.R364fs|GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.R375fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.R300fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	381					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								43,4221		0,43,2089						4.8	1.0			40	28,8226		0,28,4099	no	frameshift	GLYR1	NM_032569.3		0,71,6188	A1A1,A1R,RR		0.3392,1.0084,0.5672				71,12447				-	-	-	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1141dupG	16.37:g.4862236_4862236dupC	ENSP00000322716:p.Arg381fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.R380fs	ENST00000321919.9	37	c.1141_1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.574	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	52	0.00	0	-	NM_032569		4862228	4862229	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	frame_shift_ins	35	23.91	11	INS	0.990:0.170	C
GPC2	221914	genome.wustl.edu	37	7	99771553	99771554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:99771553_99771554insC	ENST00000292377.2	-	5	963_964	c.796_797insG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGTGAGGGGACCCCCCGGCAC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.797dupG	7.37:g.99771559_99771559dupC	ENSP00000292377:p.Val266fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A7	Frame_Shift_Ins	INS	pfam_Glypican	p.V266fs	ENST00000292377.2	37	c.797_796	CCDS5689.1	7																																																																																			GPC2	-	pfam_Glypican	ENSG00000213420		0.644	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	20	0.00	0	-	NM_152742		99771553	99771554	-1	no_errors	ENST00000292377	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.001:0.000	C
GPR124	25960	genome.wustl.edu	37	8	37697097	37697098	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:37697097_37697098insG	ENST00000412232.2	+	16	2481_2482	c.2468_2469insG	c.(2467-2472)gcggggfs	p.AG823fs	GPR124_ENST00000315215.7_Frame_Shift_Ins_p.AG606fs	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	823					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCTGTCTTTGCGGGGGGCATCA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2474dupG	8.37:g.37697103_37697103dupG	ENSP00000406367:p.Ala823fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.I826fs	ENST00000412232.2	37	c.2468_2469	CCDS6097.2	8																																																																																			GPR124	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000020181		0.599	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	47	0.00	0	-			37697097	37697098	+1	no_errors	ENST00000412232	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.995:0.064	G
GPSM2	29899	genome.wustl.edu	37	1	109466642	109466643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:109466642_109466643insC	ENST00000406462.2	+	15	2394_2395	c.1621_1622insC	c.(1621-1623)tccfs	p.S541fs	GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.S541fs|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	541					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCCTGTGGTATCCCCCAACACG	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1626dupC	1.37:g.109466647_109466647dupC	ENSP00000385510:p.Ser541fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Frame_Shift_Ins	INS	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N543fs	ENST00000406462.2	37	c.1621_1622	CCDS792.2	1																																																																																			GPSM2	-	NULL	ENSG00000121957		0.396	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	42	0.00	0	-	NM_013296		109466642	109466643	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.975:0.997	C
HDAC6	10013	genome.wustl.edu	37	X	48681900	48681901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrX:48681900_48681901insC	ENST00000334136.5	+	25	3269_3270	c.3091_3092insC	c.(3091-3093)accfs	p.T1031fs	HDAC6_ENST00000376619.2_Frame_Shift_Ins_p.T1031fs|HDAC6_ENST00000444343.2_Frame_Shift_Ins_p.T1045fs			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1031					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGACCACCAGACCCCCCCAACC	0.589																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3098dupC	X.37:g.48681907_48681907dupC	ENSP00000334061:p.Thr1031fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.T1048fs	ENST00000334136.5	37	c.3133_3134	CCDS14306.1	X																																																																																			HDAC6	-	NULL	ENSG00000094631		0.589	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	24	0.00	0	-	NM_006044		48681900	48681901	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.328:0.014	C
HECTD4	283450	genome.wustl.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.D4198fs	ENST00000430131.2	37	c.12591_12590		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000173064		0.629	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		27	0.00	0	-	NM_173813		112600859	112600860	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	0.555:1.000	G
HECW1	23072	genome.wustl.edu	37	7	43483924	43483924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:43483924delC	ENST00000395891.2	+	11	1758	c.1153delC	c.(1153-1155)ccafs	p.P385fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.P385fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	385					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTCTGAGGCACCAGAGTCCTC	0.582																																						dbGAP											0													51.0	57.0	55.0					7																	43483924		2097	4219	6316	-	-	-	SO:0001589	frameshift_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1153delC	7.37:g.43483924delC	ENSP00000379228:p.Pro385fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.P385fs	ENST00000395891.2	37	c.1153	CCDS5469.2	7																																																																																			HECW1	-	NULL	ENSG00000002746		0.582	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	42	0.00	0	C	NM_015052		43483924	43483924	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.000	-
HERC1	8925	genome.wustl.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q4385fs	ENST00000443617.2	37	c.13154_13153	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	48	0.00	0	-	NM_003922		63918305	63918306	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	1.000:1.000	G
HN1L	90861	genome.wustl.edu	37	16	1735531	1735531	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr16:1735531A>G	ENST00000248098.3	+	2	193	c.136A>G	c.(136-138)Aat>Gat	p.N46D	HN1L_ENST00000562684.1_Missense_Mutation_p.N74D|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000382711.5_Missense_Mutation_p.N30D|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000569765.1_Missense_Mutation_p.N74D|HN1L_ENST00000382710.4_Missense_Mutation_p.N34D|HN1L_ENST00000561516.1_Missense_Mutation_p.N46D	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	46						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GATGGCATCTAATATTTTTGG	0.478																																						dbGAP											0													85.0	85.0	85.0					16																	1735531		2199	4300	6499	-	-	-	SO:0001583	missense	0			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.136A>G	16.37:g.1735531A>G	ENSP00000248098:p.Asn46Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY2|Q6EIC7	Missense_Mutation	SNP	NULL	p.N46D	ENST00000248098.3	37	c.136	CCDS10441.1	16	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802960	0.90623	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.41065	1.01;1.01	5.99	5.99	0.97316	.	0.264070	0.42821	D	0.000655	T	0.68513	0.3009	M	0.86502	2.82	0.50632	D	0.999886	D;D;D;D;D	0.71674	0.977;0.997;0.992;0.998;0.977	P;D;P;D;P	0.66196	0.725;0.942;0.874;0.91;0.725	T	0.73610	-0.3928	10	0.56958	D	0.05	-16.4728	16.4943	0.84223	1.0:0.0:0.0:0.0	.	34;74;74;46;46	A6NGP5;B4E1P3;B4DLH4;B4DL85;Q9H910	.;.;.;.;HN1L_HUMAN	D	46;74;46;34	ENSP00000248098:N46D;ENSP00000372157:N34D	ENSP00000248098:N46D	N	+	1	0	HN1L	1675532	0.966000	0.33281	0.932000	0.37286	0.996000	0.88848	3.196000	0.51020	2.291000	0.77112	0.533000	0.62120	AAT	HN1L	-	NULL	ENSG00000206053		0.478	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2	61	0.00	0	A	NM_144570		1735531	1735531	+1	no_errors	ENST00000248098	ensembl	human	known	69_37n	missense	18	76.32	58	SNP	0.995	G
HPS1	3257	genome.wustl.edu	37	10	100189562	100189563	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr10:100189562_100189563insC	ENST00000325103.6	-	9	1085_1086	c.852_853insG	c.(850-855)gggagcfs	p.S285fs	MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000338546.5_Frame_Shift_Ins_p.S285fs|HPS1_ENST00000361490.4_Frame_Shift_Ins_p.S285fs	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	285					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCTGCAGAGCTCCCCCCAGTTG	0.688									Hermansky-Pudlak syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.853dupG	10.37:g.100189568_100189568dupC	ENSP00000326649:p.Ser285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Frame_Shift_Ins	INS	NULL	p.S284fs	ENST00000325103.6	37	c.853_852	CCDS7475.1	10																																																																																			HPS1	-	NULL	ENSG00000107521		0.688	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	27	0.00	0	-	NM_000195, NM_182637, NM_182638, NM_182639		100189562	100189563	-1	no_errors	ENST00000325103	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.033:0.007	C
IGFN1	91156	genome.wustl.edu	37	1	201174401	201174402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:201174401_201174402insG	ENST00000335211.4	+	11	1238_1239	c.1108_1109insG	c.(1108-1110)aggfs	p.R370fs	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Frame_Shift_Ins_p.R370fs	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	370	Ig-like 2.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGGTGGTGAGGGGGGCACGT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1114dupG	1.37:g.201174407_201174407dupG	ENSP00000334714:p.Arg370fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAI1|Q9NT72	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A372fs	ENST00000335211.4	37	c.1108_1109	CCDS53455.1	1																																																																																			IGFN1	-	smart_Ig_sub	ENSG00000163395		0.604	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		36	0.00	0	-	NM_178275		201174401	201174402	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.884:0.684	G
IGSF9B	22997	genome.wustl.edu	37	11	133815978	133815979	+	Frame_Shift_Ins	INS	-	-	G	rs564027888	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:133815978_133815979insG	ENST00000321016.8	-	2	469_470	c.239_240insC	c.(238-240)ccgfs	p.P80fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.P80fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	80	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTCCACGTGCGGCGGGTAGTA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.240dupC	11.37:g.133815980_133815980dupG	ENSP00000317980:p.Pro80fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA26	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H81fs	ENST00000321016.8	37	c.240_239		11																																																																																			IGSF9B	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000080854		0.624	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		61	0.00	0	-	XM_290502		133815978	133815979	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	frame_shift_ins	18	18.18	4	INS	0.087:1.000	G
ILF3	3609	genome.wustl.edu	37	19	10794365	10794366	+	Frame_Shift_Ins	INS	-	-	C	rs58159971		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:10794365_10794366insC	ENST00000590261.1	+	15	1905_1906	c.1905_1906insC	c.(1906-1908)cccfs	p.P636fs	ILF3_ENST00000449870.1_Frame_Shift_Ins_p.P640fs|ILF3_ENST00000407004.3_Frame_Shift_Ins_p.P640fs|ILF3_ENST00000592763.1_Frame_Shift_Ins_p.P640fs|ILF3_ENST00000420083.1_Frame_Shift_Ins_p.P636fs|ILF3_ENST00000250241.8_Frame_Shift_Ins_p.P636fs|ILF3_ENST00000318511.3_Frame_Shift_Ins_p.P636fs|ILF3_ENST00000588657.1_Frame_Shift_Ins_p.P640fs|ILF3_ENST00000589998.1_Frame_Shift_Ins_p.P636fs			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	636	Interaction with PRMT1.|Poly-Pro.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAGTGCCCCCACCCCCCAACCT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1911dupC	19.37:g.10794371_10794371dupC	ENSP00000468156:p.Pro636fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Frame_Shift_Ins	INS	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.N641fs	ENST00000590261.1	37	c.1917_1918	CCDS12246.1	19																																																																																			ILF3	-	NULL	ENSG00000129351		0.629	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	48	0.00	0	-			10794365	10794366	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.918:0.998	C
INTS5	80789	genome.wustl.edu	37	11	62416115	62416116	+	Frame_Shift_Ins	INS	-	-	T	rs542555325		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:62416115_62416116insT	ENST00000330574.2	-	2	1488_1489	c.1436_1437insA	c.(1435-1437)aacfs	p.N479fs	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	479					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCAACATGGTTTTTGAGCGC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1437dupA	11.37:g.62416120_62416120dupT	ENSP00000327889:p.Asn479fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W5|Q9C0G5	Frame_Shift_Ins	INS	NULL	p.N479fs	ENST00000330574.2	37	c.1437_1436	CCDS8027.1	11																																																																																			INTS5	-	NULL	ENSG00000185085		0.589	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	28	0.00	0	-	NM_030628		62416115	62416116	-1	no_errors	ENST00000330574	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:1.000	T
JPH4	84502	genome.wustl.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1505_1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	21	0.00	0	-	NM_032452		24040435	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_ins	25	24.24	8	INS	0.051:0.057	C
KAZALD1	81621	genome.wustl.edu	37	10	102824102	102824102	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr10:102824102C>G	ENST00000370200.5	+	3	922	c.596C>G	c.(595-597)cCc>cGc	p.P199R		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	199	Ig-like C2-type.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TTTGCCTACCCCATGGCCTCC	0.582																																						dbGAP											0													85.0	71.0	76.0					10																	102824102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.596C>G	10.37:g.102824102C>G	ENSP00000359219:p.Pro199Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like	p.P199R	ENST00000370200.5	37	c.596	CCDS7509.1	10	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022673	0.93462	.	.	ENSG00000107821	ENST00000370200	D	0.97850	-4.57	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	10	0.87932	D	0	-2.1421	20.1775	0.98187	0.0:1.0:0.0:0.0	.	199	Q96I82	KAZD1_HUMAN	R	199	ENSP00000359219:P199R	ENSP00000359219:P199R	P	+	2	0	KAZALD1	102814092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	CCC	KAZALD1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like	ENSG00000107821		0.582	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	HGNC	protein_coding	OTTHUMT00000049891.2	53	0.00	0	C	NM_030929		102824102	102824102	+1	no_errors	ENST00000370200	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	G
KIAA2022	340533	genome.wustl.edu	37	X	73963324	73963324	+	Silent	SNP	C	C	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrX:73963324C>T	ENST00000055682.6	-	3	1679	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	356					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CACTGCTCTGCTTCAGGGCCC	0.473																																						dbGAP											0													65.0	61.0	63.0					X																	73963324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1068G>A	X.37:g.73963324C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.K356	ENST00000055682.6	37	c.1068	CCDS35337.1	X																																																																																			KIAA2022	-	NULL	ENSG00000050030		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	74	0.00	0	C	NM_001008537		73963324	73963324	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	silent	101	12.17	14	SNP	0.996	T
KIF13B	23303	genome.wustl.edu	37	8	29003919	29003919	+	Silent	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:29003919G>A	ENST00000524189.1	-	18	2201	c.2163C>T	c.(2161-2163)gcC>gcT	p.A721A	KIF13B_ENST00000521515.1_Silent_p.A721A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	721					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCAGGCTGGAGGCTGGAATCT	0.408																																						dbGAP											0													134.0	124.0	127.0					8																	29003919		1882	4106	5988	-	-	-	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2163C>T	8.37:g.29003919G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A721	ENST00000524189.1	37	c.2163	CCDS55217.1	8																																																																																			KIF13B	-	NULL	ENSG00000197892		0.408	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	106	0.00	0	G			29003919	29003919	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	silent	47	61.16	74	SNP	1.000	A
LIMK1	3984	genome.wustl.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:73535322_73535323insC	ENST00000336180.2	+	15	1775_1776	c.1724_1725insC	c.(1723-1728)tgccccfs	p.CP575fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP541fs|LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP605fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CCCCCAAACTGCCCCCCGAGCT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1730dupC	7.37:g.73535328_73535328dupC	ENSP00000336740:p.Cys575fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S578fs	ENST00000336180.2	37	c.1724_1725	CCDS5563.1	7																																																																																			LIMK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000106683		0.653	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	65	0.00	0	-	NM_002314		73535322	73535323	+1	no_errors	ENST00000336180	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	C
LINC00174	285908	genome.wustl.edu	37	7	65842446	65842446	+	lincRNA	SNP	G	G	A	rs534361995		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:65842446G>A	ENST00000421767.1	-	0	3286					NR_026873.1				long intergenic non-protein coding RNA 174																		CCGCCAACAGGCAAGAACTGG	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14286	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													18.0	18.0	18.0					7																	65842446		2200	4292	6492	-	-	-			0			AK091213		7q11.21	2013-12-05	2013-12-05	2013-12-05	ENSG00000179406	ENSG00000179406		"""Long non-coding RNAs"""	27788	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 174"""	NCRNA00174			Standard	NR_026873		Approved		uc003tux.4		OTTHUMG00000156590		7.37:g.65842446G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000421767.1	37	NULL		7																																																																																			LINC00174	-	-	ENSG00000179406		0.692	LINC00174-001	KNOWN	basic	lincRNA	LINC00174	HGNC	lincRNA	OTTHUMT00000344721.1	25	0.00	0	G	NR_026873		65842446	65842446	-1	no_errors	ENST00000421767	ensembl	human	known	69_37n	rna	21	16.00	4	SNP	0.786	A
LINGO1	84894	genome.wustl.edu	37	15	77908193	77908194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr15:77908193_77908194insG	ENST00000355300.6	-	2	229_230	c.55_56insC	c.(55-57)ctcfs	p.L19fs	LINGO1_ENST00000561030.1_Frame_Shift_Ins_p.L13fs	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	19					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGGCCAGGAGGGGGCTGGGC	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.56dupC	15.37:g.77908198_77908198dupG	ENSP00000347451:p.Leu19fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L19fs	ENST00000355300.6	37	c.56_55	CCDS45313.1	15																																																																																			LINGO1	-	NULL	ENSG00000169783		0.708	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	15	0.00	0	-	NM_032808		77908193	77908194	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:1.000	G
LRP2	4036	genome.wustl.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ccafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCACCTGCATGGGGGGGGCAG	0.535																																						dbGAP											0			GRCh37	CI073757	LRP2	I	rs80338754																																			-	-	-	SO:0001589	frameshift_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13140dupC	2.37:g.169997032_169997032dupG	ENSP00000263816:p.Pro4380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C4381fs	ENST00000263816.3	37	c.13140_13139	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000081479		0.535	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	47	0.00	0	-	NM_004525		169997024	169997025	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_ins	26	16.13	5	INS	1.000:1.000	G
LRP4	4038	genome.wustl.edu	37	11	46917494	46917495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:46917494_46917495insC	ENST00000378623.1	-	10	1365_1366	c.1123_1124insG	c.(1123-1125)gcafs	p.A375fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	375	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACTGCACTGCCCCCCGCACC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1124dupG	11.37:g.46917500_46917500dupC	ENSP00000367888:p.Ala375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A375fs	ENST00000378623.1	37	c.1124_1123	CCDS31478.1	11																																																																																			LRP4	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000134569		0.629	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	41	0.00	0	-	NM_002334		46917494	46917495	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	frame_shift_ins	16	20.00	4	INS	0.850:0.844	C
LRWD1	222229	genome.wustl.edu	37	7	102108766	102108766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:102108766delC	ENST00000292616.5	+	7	1013	c.861delC	c.(859-861)agcfs	p.S287fs	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	287					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGAACAACAGCCCCCAGGACC	0.662																																						dbGAP											0													42.0	45.0	44.0					7																	102108766		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.861delC	7.37:g.102108766delC	ENSP00000292616:p.Ser287fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q289fs	ENST00000292616.5	37	c.861	CCDS34715.1	7																																																																																			LRWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000161036		0.662	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	56	0.00	0	C	NM_152892		102108766	102108766	+1	no_errors	ENST00000292616	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
MAP1B	4131	genome.wustl.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Frame_Shift_Ins	INS	pfam_MAP1B_neuraxin	p.E1968fs	ENST00000296755.7	37	c.5894_5895	CCDS4012.1	5																																																																																			MAP1B	-	pfam_MAP1B_neuraxin	ENSG00000131711		0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	17	0.00	0	-	NM_005909		71495076	71495077	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	0.926:0.932	C
MAP2K4	6416	genome.wustl.edu	37	17	11984789	11984790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:11984789_11984790insT	ENST00000353533.5	+	3	398_399	c.335_336insT	c.(334-339)gcttatfs	p.Y113fs	MAP2K4_ENST00000581941.1_3'UTR|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Frame_Shift_Ins_p.Y124fs	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.A112V(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GGACGAGGAGCTTATGGTTCTG	0.421			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	breast(4)|ovary(4)|biliary_tract(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.337dupT	17.37:g.11984791_11984791dupT	ENSP00000262445:p.Tyr113fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y124fs	ENST00000353533.5	37	c.368_369	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.421	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	46	0.00	0	-			11984789	11984790	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_ins	11	65.62	21	INS	1.000:0.997	T
MAP3K12	7786	genome.wustl.edu	37	12	53876672	53876672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr12:53876672delT	ENST00000267079.2	-	12	2041	c.1816delA	c.(1816-1818)atgfs	p.M606fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.M639fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.M639fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	606					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GATGAAGACATTTTGCGGAGC	0.697																																						dbGAP											0													41.0	47.0	45.0					12																	53876672		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1816delA	12.37:g.53876672delT	ENSP00000267079:p.Met606fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M606fs	ENST00000267079.2	37	c.1816	CCDS8860.1	12																																																																																			MAP3K12	-	pirsf_MAP3K12_MAP3K13	ENSG00000139625		0.697	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	27	0.00	0	T	NM_006301		53876672	53876672	-1	no_errors	ENST00000267079	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000405074.3_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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	44	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	44	18.52	10	INS	0.999:1.000	C
MCM3AP	8888	genome.wustl.edu	37	21	47664719	47664720	+	Splice_Site	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr21:47664719_47664720insC	ENST00000397708.1	-	24	5293		c.e24+1		MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000467026.1_Splice_Site|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Splice_Site|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAAGCACGTACCCCCCAGGGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5038+1->G	21.37:g.47664725_47664725dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Splice_Site	INS	-	e23+1	ENST00000397708.1	37	c.5038+1_5038+1	CCDS13734.1	21																																																																																			MCM3AP	-	-	ENSG00000160294		0.619	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	20	0.00	0	-	NM_003906	Intron	47664719	47664720	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	splice_site_ins	9	18.18	2	INS	0.996:1.000	C
MN1	4330	genome.wustl.edu	37	22	28196398	28196398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:28196398delG	ENST00000302326.4	-	1	1088	c.134delC	c.(133-135)cctfs	p.P45fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	45					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CACAGGGCCAGGGGGCCCCCC	0.637			T	ETV6	"""AML, meningioma"""																																	dbGAP		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													57.0	64.0	62.0					22																	28196398		1896	4106	6002	-	-	-	SO:0001589	frameshift_variant	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.134delC	22.37:g.28196398delG	ENSP00000304956:p.Pro45fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1V9	Frame_Shift_Del	DEL	NULL	p.P45fs	ENST00000302326.4	37	c.134	CCDS42998.1	22																																																																																			MN1	-	NULL	ENSG00000169184		0.637	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	54	0.00	0	G	NM_002430		28196398	28196398	-1	no_errors	ENST00000302326	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
MYADML2	255275	genome.wustl.edu	37	17	79898822	79898823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:79898822_79898823insG	ENST00000409745.2	-	3	1149_1150	c.795_796insC	c.(793-798)cccaacfs	p.N266fs	AC137723.5_ENST00000415556.1_RNA|MYADML2_ENST00000330655.3_Frame_Shift_Ins_p.N266fs	NM_001145113.2	NP_001138585.2	A6NDP7	MADL2_HUMAN	myeloid-associated differentiation marker-like 2	266	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)	1						CGAGCACAGTTGGGGGGCCGTT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AC137723, BC029306	CCDS45815.1	17q25.3	2008-10-15			ENSG00000185105	ENSG00000185105			34548	protein-coding gene	gene with protein product							Standard	NM_001145113		Approved	LOC255275	uc010wvf.1	A6NDP7	OTTHUMG00000154388	ENST00000409745.2:c.796dupC	17.37:g.79898828_79898828dupG	ENSP00000386702:p.Asn266fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_MARVEL-like_dom	p.N265fs	ENST00000409745.2	37	c.796_795	CCDS45815.1	17																																																																																			MYADML2	-	pfam_MARVEL-like_dom	ENSG00000185105		0.614	MYADML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADML2	HGNC	protein_coding	OTTHUMT00000335008.2	20	0.00	0	-	XR_041347		79898822	79898823	-1	no_errors	ENST00000330655	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.007:0.000	G
NBL1	4681	genome.wustl.edu	37	1	19981543	19981544	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:19981543_19981544insG	ENST00000375136.3	+	2	323_324	c.20_21insG	c.(19-24)gtggggfs	p.VG7fs	MINOS1-NBL1_ENST00000602662.1_Frame_Shift_Ins_p.VG7fs|NBL1_ENST00000548815.1_Frame_Shift_Ins_p.VG6fs|NBL1_ENST00000289749.2_Frame_Shift_Ins_p.VG42fs	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	7					determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGTCCTGGTGGGGGCTGTCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.25dupG	1.37:g.19981548_19981548dupG	ENSP00000364278:p.Val7fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Frame_Shift_Ins	INS	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.A44fs	ENST00000375136.3	37	c.125_126	CCDS196.2	1																																																																																			NBL1	-	NULL	ENSG00000158747		0.624	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	31	0.00	0	-	NM_005380		19981543	19981544	+1	no_errors	ENST00000289749	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.999	G
NDOR1	27158	genome.wustl.edu	37	9	140108277	140108278	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:140108277_140108278insG	ENST00000344894.5	+	4	440_441	c.357_358insG	c.(358-360)gggfs	p.G120fs	NDOR1_ENST00000371521.4_Frame_Shift_Ins_p.G120fs|NDOR1_ENST00000427047.2_Frame_Shift_Ins_p.G120fs|NDOR1_ENST00000458322.2_Frame_Shift_Ins_p.G120fs	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TACTGCAGCTTGGGGGCAGCGC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.362dupG	9.37:g.140108282_140108282dupG	ENSP00000343344:p.Gly120fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S121fs	ENST00000344894.5	37	c.357_358	CCDS7036.1	9																																																																																			NDOR1	-	pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	ENSG00000188566		0.673	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1	23	0.00	0	-	NM_014434		140108277	140108278	+1	no_errors	ENST00000371521	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.230:0.998	G
NEURL1	9148	genome.wustl.edu	37	10	105330708	105330709	+	Frame_Shift_Ins	INS	-	-	G	rs201830019		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr10:105330708_105330709insG	ENST00000369780.4	+	2	574_575	c.165_166insG	c.(166-168)gggfs	p.G56fs	NEURL_ENST00000369777.2_Frame_Shift_Ins_p.G39fs	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		56					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S55S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGCTGCCCAGCGGGGGGCTCCC	0.649																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0																														ENST00000369780.4:c.171dupG	10.37:g.105330714_105330714dupG	ENSP00000358795:p.Gly56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Frame_Shift_Ins	INS	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.L57fs	ENST00000369780.4	37	c.165_166	CCDS7551.1	10																																																																																			NEURL	-	NULL	ENSG00000107954		0.649	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	15	0.00	0	-			105330708	105330709	+1	no_errors	ENST00000369780	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.002:0.993	G
PALM3	342979	genome.wustl.edu	37	19	14167592	14167592	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:14167592G>T	ENST00000340790.4	-	3	150	c.151C>A	c.(151-153)Cta>Ata	p.L51I		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	51					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						CCATCCATTAGCCAACGTTCC	0.637																																						dbGAP											0													49.0	62.0	58.0					19																	14167592		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.151C>A	19.37:g.14167592G>T	ENSP00000344996:p.Leu51Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L51I	ENST00000340790.4	37	c.151	CCDS46001.1	19	.	.	.	.	.	.	.	.	.	.	g	18.89	3.719291	0.68844	.	.	ENSG00000187867	ENST00000340790	T	0.69306	-0.39	4.74	3.67	0.42095	.	.	.	.	.	T	0.74527	0.3728	L	0.46157	1.445	0.27526	N	0.951257	D	0.89917	1.0	D	0.72338	0.977	T	0.65034	-0.6266	9	0.87932	D	0	.	10.1131	0.42574	0.0:0.0:0.7991:0.2009	.	51	A6NDB9	PALM3_HUMAN	I	51	ENSP00000344996:L51I	ENSP00000344996:L51I	L	-	1	2	PALM3	14028592	1.000000	0.71417	0.855000	0.33649	0.678000	0.39670	5.563000	0.67352	0.946000	0.37632	0.561000	0.74099	CTA	PALM3	-	NULL	ENSG00000187867		0.637	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	62	0.00	0	G	NM_001145028		14167592	14167592	-1	no_errors	ENST00000340790	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	T
PCDH10	57575	genome.wustl.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr4:134071648_134071649insC	ENST00000264360.5	+	1	1179_1180	c.353_354insC	c.(352-357)aaccccfs	p.NP118fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1. {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.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.360dupC	4.37:g.134071655_134071655dupC	ENSP00000264360:p.Asn118fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S121fs	ENST00000264360.5	37	c.353_354	CCDS34063.1	4																																																																																			PCDH10	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000138650		0.604	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	20	0.00	0	-	NM_032961		134071648	134071649	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:1.000	C
PCDH19	57526	genome.wustl.edu	37	X	99662504	99662505	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrX:99662504_99662505insG	ENST00000373034.4	-	1	2766_2767	c.1091_1092insC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.P364fs|PCDH19_ENST00000255531.7_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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	25	0.00	0	-	NM_020766		99662504	99662505	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.984:1.000	G
PCDH19	57526	genome.wustl.edu	37	X	99662746	99662746	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrX:99662746G>A	ENST00000373034.4	-	1	2525	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	PCDH19_ENST00000420881.2_Missense_Mutation_p.R284C|PCDH19_ENST00000255531.7_Missense_Mutation_p.R284C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	284	Cadherin 3. {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)			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						TCGCGCGTGCGGTCGTTGACG	0.612																																						dbGAP											0													110.0	115.0	114.0					X																	99662746		2173	4251	6424	-	-	-	SO:0001583	missense	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.850C>T	X.37:g.99662746G>A	ENSP00000362125:p.Arg284Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R284C	ENST00000373034.4	37	c.850	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208009	0.39003	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.61274	0.12;0.12;0.12	5.95	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.482508	0.24282	N	0.039891	T	0.76133	0.3945	M	0.83692	2.655	0.21256	N	0.999741	D;D;D	0.76494	0.972;0.999;0.999	P;D;D	0.67900	0.638;0.924;0.954	T	0.70781	-0.4779	10	0.87932	D	0	.	14.7634	0.69621	0.0:0.0:0.6119:0.3881	.	284;284;284	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	C	284	ENSP00000400327:R284C;ENSP00000362125:R284C;ENSP00000255531:R284C	ENSP00000255531:R284C	R	-	1	0	PCDH19	99549402	0.813000	0.29090	0.776000	0.31678	0.809000	0.45718	1.623000	0.37008	1.220000	0.43490	0.513000	0.50165	CGC	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	74	0.00	0	G	NM_020766		99662746	99662746	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	0.087	A
PCDHA5	56143	genome.wustl.edu	37	5	140202792	140202792	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr5:140202792G>A	ENST00000529859.1	+	1	1432	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A478T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A478T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTCTGCACGGGACGC	0.667																																						dbGAP											0													75.0	79.0	77.0					5																	140202792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1432G>A	5.37:g.140202792G>A	ENSP00000436557:p.Ala478Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A478T	ENST00000529859.1	37	c.1432	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465687	0.63513	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.61392	0.11;0.11;0.11	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79052	0.4381	M	0.89353	3.025	0.43574	D	0.995903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84430	0.0576	9	0.87932	D	0	.	14.9882	0.71365	0.0:0.0:1.0:0.0	.	478;478;478	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	478	ENSP00000433416:A478T;ENSP00000436557:A478T;ENSP00000367366:A478T	ENSP00000367366:A478T	A	+	1	0	PCDHA5	140182976	1.000000	0.71417	0.279000	0.24732	0.262000	0.26303	9.535000	0.98064	1.864000	0.54056	0.461000	0.40582	GCA	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	67	0.00	0	G	NM_018908		140202792	140202792	+1	no_errors	ENST00000529859	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.993	A
PDZD3	79849	genome.wustl.edu	37	11	119058334	119058335	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:119058334_119058335insC	ENST00000531114.1	+	4	1329_1330	c.780_781insC	c.(781-783)cccfs	p.P261fs	PDZD3_ENST00000355547.5_Frame_Shift_Ins_p.P195fs|PDZD3_ENST00000322712.4_Frame_Shift_Ins_p.P195fs|PDZD3_ENST00000525131.1_Frame_Shift_Ins_p.P182fs|PDZD3_ENST00000392817.2_Frame_Shift_Ins_p.P261fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	261	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGGCAGGGGTGCCCCCCGGGGC	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.786dupC	11.37:g.119058340_119058340dupC	ENSP00000431164:p.Pro261fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G262fs	ENST00000531114.1	37	c.780_781		11																																																																																			PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172367		0.554	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	25	0.00	0	-	NM_024791		119058334	119058335	+1	no_errors	ENST00000392817	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.842:0.987	C
PHF1	5252	genome.wustl.edu	37	6	33380049	33380050	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr6:33380049_33380050insC	ENST00000374516.3	+	2	280_281	c.9_10insC	c.(10-12)cccfs	p.P4fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P4fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	4					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CAATGGCGCAGCCCCCCCGGCT	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.16dupC	6.37:g.33380056_33380056dupC	ENSP00000363640:p.Pro4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R5fs	ENST00000374516.3	37	c.9_10	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.564	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3	41	0.00	0	-			33380049	33380050	+1	no_errors	ENST00000374516	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	85	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	A
PIK3CD	5293	genome.wustl.edu	37	1	9777113	9777114	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:9777113_9777114insCC	ENST00000377346.4	+	7	1072_1073	c.877_878insCC	c.(877-879)gccfs	p.A293fs	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	293					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GAGCAACCCTGCCCCCCAGGTC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.882_883dupCC	1.37:g.9777118_9777119dupCC	ENSP00000366563:p.Ala293fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q295fs	ENST00000377346.4	37	c.877_878	CCDS104.1	1																																																																																			PIK3CD	-	NULL	ENSG00000171608		0.614	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	41	0.00	0	-	NM_005026		9777113	9777114	+1	no_errors	ENST00000377346	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.001:0.080	CC
PLEKHG6	55200	genome.wustl.edu	37	12	6437069	6437070	+	Frame_Shift_Ins	INS	-	-	G	rs374620511		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr12:6437069_6437070insG	ENST00000396988.3	+	15	2550_2551	c.2320_2321insG	c.(2320-2322)cggfs	p.R774fs	PLEKHG6_ENST00000449001.2_Frame_Shift_Ins_p.R742fs|PLEKHG6_ENST00000011684.7_Frame_Shift_Ins_p.R774fs|PLEKHG6_ENST00000304581.8_Frame_Shift_Ins_p.R304fs	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	774						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R774Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCAGAGGATGCGGGGGCCCCAC	0.663																																						dbGAP											1	Substitution - Missense(1)	prostate(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2325dupG	12.37:g.6437074_6437074dupG	ENSP00000380185:p.Arg774fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P776fs	ENST00000396988.3	37	c.2320_2321	CCDS8541.1	12																																																																																			PLEKHG6	-	NULL	ENSG00000008323		0.663	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	15	0.00	0	-	NM_018173		6437069	6437070	+1	no_errors	ENST00000011684	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.990:0.941	G
PLXND1	23129	genome.wustl.edu	37	3	129303234	129303235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr3:129303234_129303235insG	ENST00000324093.4	-	6	2200_2201	c.2022_2023insC	c.(2020-2025)cccaacfs	p.N675fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.N675fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	675					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2023dupC	3.37:g.129303241_129303241dupG	ENSP00000317128:p.Asn675fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.N674fs	ENST00000324093.4	37	c.2023_2022	CCDS33854.1	3																																																																																			PLXND1	-	NULL	ENSG00000004399		0.639	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	25	0.00	0	-	NM_015103		129303234	129303235	-1	no_errors	ENST00000324093	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.000:0.000	G
POLD1	5424	genome.wustl.edu	37	19	50906420	50906421	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:50906420_50906421insC	ENST00000440232.2	+	9	1134_1135	c.1081_1082insC	c.(1081-1083)gccfs	p.A361fs	POLD1_ENST00000599857.1_Frame_Shift_Ins_p.A361fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.A361fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	361					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCCCTGTGCCCCCATCCTG	0.693								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1086dupC	19.37:g.50906425_50906425dupC	ENSP00000406046:p.Ala361fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NER3|Q96H98	Frame_Shift_Ins	INS	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.I363fs	ENST00000440232.2	37	c.1081_1082	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000062822		0.693	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	37	0.00	0	-			50906420	50906421	+1	no_errors	ENST00000440232	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.991:1.000	C
POLR2A	5430	genome.wustl.edu	37	17	7388097	7388098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:7388097_7388098insC	ENST00000322644.6	+	1	413_414	c.14_15insC	c.(13-18)ggccccfs	p.GP5fs	ZBTB4_ENST00000311403.4_5'Flank|POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.GP5fs	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	5					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACGGGGGTGGCCCCCCCTCGG	0.673																																						dbGAP											0										11,4217		0,11,2103						5.8	1.0			20	12,8208		1,10,4099	no	frameshift	POLR2A	NM_000937.4		1,21,6202	A1A1,A1R,RR		0.146,0.2602,0.1848				23,12425				-	-	-	SO:0001589	frameshift_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.21dupC	17.37:g.7388104_7388104dupC	ENSP00000314949:p.Gly5fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Frame_Shift_Ins	INS	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S8fs	ENST00000322644.6	37	c.14_15	CCDS32548.1	17																																																																																			POLR2A	-	NULL	ENSG00000181222		0.673	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	19	0.00	0	-	NM_000937		7388097	7388098	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	frame_shift_ins	8	33.33	4	INS	1.000:0.998	C
PRPF38B	55119	genome.wustl.edu	37	1	109241968	109241969	+	Frame_Shift_Ins	INS	-	-	G	rs374090950|rs150038712		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:109241968_109241969insG	ENST00000370025.4	+	6	1236_1237	c.967_968insG	c.(967-969)cggfs	p.R323fs	PRPF38B_ENST00000370021.1_Frame_Shift_Ins_p.R212fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	323	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AAGTATTGACCGGGGGTTAGAA	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.972dupG	1.37:g.109241973_109241973dupG	ENSP00000359042:p.Arg323fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Ins	INS	pfam_PRP38	p.L325fs	ENST00000370025.4	37	c.967_968	CCDS788.1	1																																																																																			PRPF38B	-	NULL	ENSG00000134186		0.495	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	41	0.00	0	-	NM_018061		109241968	109241969	+1	no_errors	ENST00000370025	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	1.000:0.997	G
PUS10	150962	genome.wustl.edu	37	2	61238927	61238927	+	Silent	SNP	A	A	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:61238927A>G	ENST00000316752.6	-	2	360	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PUS10_ENST00000407787.1_Silent_p.F33F|PUS10_ENST00000398658.2_Silent_p.F33F	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	33					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAGGTGCATGAAAATCCACAC	0.353																																						dbGAP											0													72.0	65.0	67.0					2																	61238927		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.99T>C	2.37:g.61238927A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ5|Q96MI8	Silent	SNP	superfamily_PsdUridine_synth_cat_dom	p.F33	ENST00000316752.6	37	c.99	CCDS1865.1	2																																																																																			PUS10	-	NULL	ENSG00000162927		0.353	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	47	0.00	0	A	NM_144709		61238927	61238927	-1	no_errors	ENST00000316752	ensembl	human	known	69_37n	silent	26	31.58	12	SNP	0.988	G
RALGAPB	57148	genome.wustl.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.H382fs	ENST00000262879.6	37	c.1135_1136	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	97	0.00	0	-	NM_020336		37146232	37146233	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	frame_shift_ins	169	11.52	22	INS	0.999:1.000	C
RALGAPB	57148	genome.wustl.edu	37	20	37203484	37203485	+	Frame_Shift_Ins	INS	-	-	C	rs138886522	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr20:37203484_37203485insC	ENST00000262879.6	+	30	4643_4644	c.4359_4360insC	c.(4360-4362)cccfs	p.P1454fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P1454fs|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P1451fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P1233fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1454					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCTACAGTCCCCCCCATGT	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4366dupC	20.37:g.37203491_37203491dupC	ENSP00000262879:p.Pro1454fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.H1455fs	ENST00000262879.6	37	c.4359_4360	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.431	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	84	0.00	0	-	NM_020336		37203484	37203485	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	frame_shift_ins	43	12.24	6	INS	0.992:1.000	C
RBFOX3	146713	genome.wustl.edu	37	17	77111769	77111772	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	TACT	TACT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:77111769_77111772delTACT	ENST00000453134.2	-	5	538_541	c.26_29delAGTA	c.(25-30)cagtacfs	p.QY9fs	RBFOX3_ENST00000580155.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000584778.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000415831.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000582043.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000583458.1_Frame_Shift_Del_p.QY9fs			A6NFN3	RFOX3_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 3	9	Pro-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q9P(1)		endometrium(2)	2						CGGAGGGGGGTACTGGGCGGGGGG	0.681																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS45805.1	17q25.3	2013-02-12			ENSG00000167281	ENSG00000167281		"""RNA binding motif (RRM) containing"""	27097	protein-coding gene	gene with protein product	"""neuronal nuclei"", ""hexaribonucleotide binding protein 3"""					16260614	Standard	NM_001082575		Approved	FOX-3, NeuN, HRNBP3	uc010dhs.4	A6NFN3	OTTHUMG00000150183	ENST00000453134.2:c.26_29delAGTA	17.37:g.77111769_77111772delTACT	ENSP00000393262:p.Gln9fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEG6|B4DF29	Frame_Shift_Del	DEL	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.Q9fs	ENST00000453134.2	37	c.29_26	CCDS45805.1	17																																																																																			RBFOX3	-	pirsf_RNA-bd_Fox-1	ENSG00000167281		0.681	RBFOX3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RBFOX3	HGNC	protein_coding	OTTHUMT00000437658.1	8	0.00	0	TACT	NM_001082575		77111769	77111772	-1	no_errors	ENST00000415831	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000:1.000:1.000:1.000	-
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037868	10037868	+	RNA	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrY:10037868G>A	ENST00000515896.1	+	0	105									RNA, 5.8S ribosomal pseudogene 6																		CACTTCGAACGCACTTGCGGC	0.562																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037868G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.562	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		13	0.00	0	G			10037868	10037868	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	9	43.75	7	SNP	1.000	A
RNMTL1	55178	genome.wustl.edu	37	17	694866	694866	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:694866G>A	ENST00000304478.4	+	4	926	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ATGGGAAACCGTGCCCAATTA	0.542																																						dbGAP											0													98.0	89.0	92.0					17																	694866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.820G>A	17.37:g.694866G>A	ENSP00000306080:p.Val274Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.V274M	ENST00000304478.4	37	c.820	CCDS10997.1	17	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465524	0.43839	.	.	ENSG00000171861	ENST00000304478	T	0.44482	0.92	5.81	-1.33	0.09172	tRNA/rRNA methyltransferase, SpoU (1);	0.493178	0.22165	N	0.063736	T	0.34337	0.0894	L	0.58428	1.81	0.09310	N	0.999996	P	0.45240	0.854	B	0.43658	0.426	T	0.24905	-1.0147	10	0.72032	D	0.01	-8.7237	3.8829	0.09086	0.157:0.2523:0.4772:0.1135	.	274	Q9HC36	RMTL1_HUMAN	M	274	ENSP00000306080:V274M	ENSP00000306080:V274M	V	+	1	0	RNMTL1	641616	0.012000	0.17670	0.009000	0.14445	0.446000	0.32137	0.214000	0.17541	0.181000	0.19994	0.591000	0.81541	GTG	RNMTL1	-	pfam_SpoU_MeTrfase	ENSG00000171861		0.542	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000206611.1	46	0.00	0	G	NM_018146		694866	694866	+1	no_errors	ENST00000304478	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	0.004	A
ROCK2	9475	genome.wustl.edu	37	2	11355160	11355160	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:11355160A>T	ENST00000315872.6	-	16	2190	c.1742T>A	c.(1741-1743)tTa>tAa	p.L581*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.L338*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	581	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GGTTTTCCTTAACCGGGCTGC	0.408																																						dbGAP											0													93.0	82.0	85.0					2																	11355160		1836	4100	5936	-	-	-	SO:0001587	stop_gained	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1742T>A	2.37:g.11355160A>T	ENSP00000317985:p.Leu581*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L581*	ENST00000315872.6	37	c.1742	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	A	41	9.091365	0.99062	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	.	.	.	4.89	4.89	0.63831	.	0.078410	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5233	0.67870	1.0:0.0:0.0:0.0	.	.	.	.	X	581;338	.	ENSP00000317985:L581X	L	-	2	0	ROCK2	11272611	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.982000	0.76173	1.831000	0.53308	0.454000	0.30748	TTA	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000134318		0.408	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	90	0.00	0	A			11355160	11355160	-1	no_errors	ENST00000315872	ensembl	human	known	69_37n	nonsense	44	38.89	28	SNP	1.000	T
RXRA	6256	genome.wustl.edu	37	9	137313586	137313586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr9:137313586delG	ENST00000481739.1	+	6	897	c.845delG	c.(844-846)tggfs	p.W282fs	RXRA_ENST00000540193.1_Frame_Shift_Del_p.W185fs|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	282	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTGGTGGAGTGGGCCAAGCGG	0.612																																						dbGAP											0													166.0	137.0	147.0					9																	137313586		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.845delG	9.37:g.137313586delG	ENSP00000419692:p.Trp282fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY83|Q2NL52|Q2V504	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.A283fs	ENST00000481739.1	37	c.845	CCDS35172.1	9																																																																																			RXRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000186350		0.612	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	110	0.00	0	G	NM_002957		137313586	137313586	+1	no_errors	ENST00000481739	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
SBF1	6305	genome.wustl.edu	37	22	50898755	50898756	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:50898755_50898756insG	ENST00000390679.3	-	25	3412_3413	c.3228_3229insC	c.(3226-3231)cccagcfs	p.S1077fs	SBF1_ENST00000348911.6_Frame_Shift_Ins_p.S1078fs|SBF1_ENST00000380817.3_Frame_Shift_Ins_p.S1077fs|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1077					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTGT	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3229dupC	22.37:g.50898762_50898762dupG	ENSP00000375097:p.Ser1077fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Ins	INS	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S1076fs	ENST00000390679.3	37	c.3229_3228		22																																																																																			SBF1	-	NULL	ENSG00000100241		0.644	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		80	0.00	0	-			50898755	50898756	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	frame_shift_ins	21	16.00	4	INS	0.053:0.039	G
SELP	6403	genome.wustl.edu	37	1	169564091	169564091	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:169564091A>G	ENST00000263686.6	-	13	2163	c.2126T>C	c.(2125-2127)gTt>gCt	p.V709A	SELP_ENST00000367793.2_Missense_Mutation_p.V647A|SELP_ENST00000367788.2_Missense_Mutation_p.V647A|SELP_ENST00000458599.2_Missense_Mutation_p.V525A|SELP_ENST00000367792.2_Missense_Mutation_p.V525A|SELP_ENST00000367794.2_Missense_Mutation_p.V647A|SELP_ENST00000367786.2_Missense_Mutation_p.V647A|SELP_ENST00000367791.2_Missense_Mutation_p.V523A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	709	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGGCTTATTAACATGTAGTTC	0.398																																						dbGAP											0													117.0	106.0	110.0					1																	169564091		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2126T>C	1.37:g.169564091A>G	ENSP00000263686:p.Val709Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.V709A	ENST00000263686.6	37	c.2126	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	A	4.302	0.055311	0.08291	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.22	0.0949	0.14483	Complement control module (2);Sushi/SCR/CCP (2);	1.617040	0.03406	N	0.204034	T	0.16342	0.0393	N	0.01464	-0.85	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.006;0.006;0.008	T	0.33266	-0.9875	10	0.02654	T	1	0.0411	4.3723	0.11253	0.4849:0.3359:0.1792:0.0	.	709;709;709	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	A	523;709;708;525;709;709;647;647;525;523;647;647;632	ENSP00000263686:V709A;ENSP00000356767:V647A;ENSP00000356768:V647A;ENSP00000356766:V525A;ENSP00000356765:V523A;ENSP00000356762:V647A;ENSP00000356760:V647A	ENSP00000263686:V709A	V	-	2	0	SELP	167830715	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.297000	0.19101	0.041000	0.15688	0.460000	0.39030	GTT	SELP	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.398	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	94	0.00	0	A	NM_003005		169564091	169564091	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	64	48.80	61	SNP	0.000	G
SERPINF1	5176	genome.wustl.edu	37	17	1670275	1670276	+	Frame_Shift_Ins	INS	-	-	C	rs377411384	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:1670275_1670276insC	ENST00000254722.4	+	2	234_235	c.71_72insC	c.(70-75)agccccfs	p.SP24fs	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	24					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AACCCTGCCAGCCCCCCGGAGG	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.77dupC	17.37:g.1670281_1670281dupC	ENSP00000254722:p.Ser24fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Frame_Shift_Ins	INS	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.E27fs	ENST00000254722.4	37	c.71_72	CCDS11012.1	17																																																																																			SERPINF1	-	NULL	ENSG00000132386		0.673	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4	22	0.00	0	-	NM_002615		1670275	1670276	+1	no_errors	ENST00000254722	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.004:0.000	C
SETDB1	9869	genome.wustl.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs	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		Somatic		WXS	Illumina GAIIx	Phase_IV	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	58	0.00	0	-			150917623	150917624	+1	no_errors	ENST00000368962	ensembl	human	known	69_37n	frame_shift_ins	60	11.76	8	INS	0.000:0.000	G
SLC16A1	6566	genome.wustl.edu	37	1	113460537	113460538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:113460537_113460538insG	ENST00000538576.1	-	4	1321_1322	c.490_491insC	c.(490-492)ctcfs	p.L164fs	SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.L164fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.L164fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	164					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AACCTGATTGAGGGGGGCCAGA	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.491dupC	1.37:g.113460543_113460543dupG	ENSP00000441065:p.Leu164fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L164fs	ENST00000538576.1	37	c.491_490	CCDS858.1	1																																																																																			SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.525	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	34	0.00	0	-	NM_003051		113460537	113460538	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.998:0.612	G
SLC35G2	80723	genome.wustl.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																						dbGAP											0													88.0	99.0	95.0					3																	136573486		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_DMT	p.66fs	ENST00000446465.2	37	c.184	CCDS3091.1	3																																																																																			SLC35G2	-	NULL	ENSG00000168917		0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G2	HGNC	protein_coding	OTTHUMT00000357317.1	32	0.00	0	A	NM_025246		136573486	136573486	+1	no_errors	ENST00000393079	ensembl	human	known	69_37n	frame_shift_del	24	14.29	4	DEL	1.000	-
SLC46A1	113235	genome.wustl.edu	37	17	26732938	26732939	+	Frame_Shift_Ins	INS	-	-	C	rs80338769|rs397515573		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:26732938_26732939insC	ENST00000440501.1	-	1	289_290	c.194_195insG	c.(193-195)ggcfs	p.G65fs	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Frame_Shift_Ins_p.G65fs|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	65					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GGTTGCTGCAGCCCCCCCTTTG	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.195dupG	17.37:g.26732945_26732945dupC	ENSP00000395653:p.Gly65fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.C66fs	ENST00000440501.1	37	c.195_194		17																																																																																			SLC46A1	-	pfscan_MFS_dom	ENSG00000076351		0.708	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		17	0.00	0	-	NM_080669		26732938	26732939	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	0.961:0.287	C
SLC4A3	6508	genome.wustl.edu	37	2	220494110	220494111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:220494110_220494111insC	ENST00000358055.3	+	4	974_975	c.462_463insC	c.(463-465)cccfs	p.P155fs	SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.P155fs|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.P155fs|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.P155fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.P155fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	155	Pro-rich.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCTGTGGAGCCCCCCCACTC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.469dupC	2.37:g.220494117_220494117dupC	ENSP00000350756:p.Pro155fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.H156fs	ENST00000358055.3	37	c.462_463	CCDS2445.1	2																																																																																			SLC4A3	-	prints_Anion_exchange_3	ENSG00000114923		0.629	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	51	0.00	0	-	NM_005070		220494110	220494111	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	frame_shift_ins	16	30.43	7	INS	0.015:0.049	C
SMTN	6525	genome.wustl.edu	37	22	31487798	31487799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr22:31487798_31487799insC	ENST00000347557.2	+	11	1815_1816	c.1597_1598insC	c.(1597-1599)gccfs	p.A533fs	SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Frame_Shift_Ins_p.A533fs|SMTN_ENST00000358743.1_Frame_Shift_Ins_p.A533fs	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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	39	0.00	0	-	NM_134270		31487798	31487799	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:0.994	C
SPATA18	132671	genome.wustl.edu	37	4	52917821	52917822	+	5'UTR	INS	-	-	C	rs535443261		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr4:52917821_52917822insC	ENST00000295213.4	+	0	325_326				SPATA18_ENST00000419395.2_5'UTR|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CACCGCCTGGTCCCCCCAAGTC	0.614																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.-49->C	4.37:g.52917827_52917827dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	RNA	INS	-	NULL	ENST00000295213.4	37	NULL	CCDS3489.1	4																																																																																			SPATA18	-	-	ENSG00000163071		0.614	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	21	0.00	0	-	NM_145263		52917821	52917822	+1	no_errors	ENST00000506829	ensembl	human	known	69_37n	rna	7	22.22	2	INS	0.001:0.002	C
SPOP	8405	genome.wustl.edu	37	17	47688736	47688736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:47688736delA	ENST00000393328.2	-	7	929	c.564delT	c.(562-564)gatfs	p.D188fs	SPOP_ENST00000347630.2_Frame_Shift_Del_p.D188fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.D188fs|SPOP_ENST00000393331.3_Frame_Shift_Del_p.D188fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.D188fs	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	188	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTCCTAACTCATCTGCCAGCC	0.502										Prostate(2;0.17)																												dbGAP											0													140.0	144.0	143.0					17																	47688736		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.564delT	17.37:g.47688736delA	ENSP00000377001:p.Asp188fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S3|D3DTW7|Q53HJ1	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.D188fs	ENST00000393328.2	37	c.564	CCDS11551.1	17																																																																																			SPOP	-	superfamily_BTB/POZ_fold	ENSG00000121067		0.502	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	55	0.00	0	A	NM_003563		47688736	47688736	-1	no_errors	ENST00000347630	ensembl	human	known	69_37n	frame_shift_del	49	15.00	9	DEL	0.993	-
SRRT	51593	genome.wustl.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	pfam_Arsenite-R_2,pfam_DUF3546	p.G104fs	ENST00000347433.4	37	c.303_304	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	10	0.00	0	-	NM_015908		100479331	100479332	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	frame_shift_ins	13	23.53	4	INS	0.996:1.000	G
STAB1	23166	genome.wustl.edu	37	3	52547907	52547908	+	Frame_Shift_Ins	INS	-	-	C	rs563085224		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr3:52547907_52547908insC	ENST00000321725.6	+	32	3433_3434	c.3357_3358insC	c.(3358-3360)cccfs	p.P1120fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1120					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								6,4260		0,6,2127						0.7	0.8			161	10,8244		0,10,4117	no	frameshift	STAB1	NM_015136.2		0,16,6244	A1A1,A1R,RR		0.1212,0.1406,0.1278				16,12504				-	-	-	SO:0001589	frameshift_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3364dupC	3.37:g.52547914_52547914dupC	ENSP00000312946:p.Pro1120fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Ins	INS	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1121fs	ENST00000321725.6	37	c.3357_3358	CCDS33768.1	3																																																																																			STAB1	-	superfamily_FAS1_domain,smart_FAS1_domain	ENSG00000010327		0.624	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	66	0.00	0	-	NM_015136		52547907	52547908	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.951:0.999	C
SULT2B1	6820	genome.wustl.edu	37	19	49102489	49102490	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr19:49102489_49102490insA	ENST00000201586.2	+	7	1102_1103	c.924_925insA	c.(925-927)tggfs	p.W309fs	SULT2B1_ENST00000323090.4_Frame_Shift_Ins_p.W294fs|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	309	Pro/Ser-rich.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CGACCTTCCCCTGGGATGAAGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		Exception_encountered	19.37:g.49102489_49102490insA	ENSP00000201586:p.Trp309fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00205|O75814	Frame_Shift_Ins	INS	pfam_Sulfotransferase_dom	p.W308fs	ENST00000201586.2	37	c.924_925	CCDS12723.1	19																																																																																			SULT2B1	-	NULL	ENSG00000088002		0.658	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	19	0.00	0	-	NM_004605		49102489	49102490	+1	no_errors	ENST00000201586	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.420:0.969	A
TAX1BP1	8887	genome.wustl.edu	37	7	27831635	27831636	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:27831635_27831636insT	ENST00000396319.2	+	9	1137_1138	c.1049_1050insT	c.(1048-1053)tgttttfs	p.CF350fs	TAX1BP1_ENST00000433216.2_Frame_Shift_Ins_p.CF193fs|TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.CF350fs|TAX1BP1_ENST00000265393.6_Frame_Shift_Ins_p.CF350fs|TAX1BP1_ENST00000543117.1_Frame_Shift_Ins_p.CF350fs	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	350	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAAGATACTTGTTTTTTAAAGG	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1055dupT	7.37:g.27831641_27831641dupT	ENSP00000379612:p.Cys350fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Frame_Shift_Ins	INS	pfam_CoCoA	p.L352fs	ENST00000396319.2	37	c.1049_1050	CCDS5415.1	7																																																																																			TAX1BP1	-	pfam_CoCoA	ENSG00000106052		0.386	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	HGNC	protein_coding	OTTHUMT00000214142.1	43	0.00	0	-	NM_006024		27831635	27831636	+1	no_errors	ENST00000396319	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.000:0.000	T
TBC1D10C	374403	genome.wustl.edu	37	11	67176564	67176565	+	Frame_Shift_Ins	INS	-	-	C	rs147560025		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr11:67176564_67176565insC	ENST00000542590.1	+	8	967_968	c.953_954insC	c.(952-957)atccccfs	p.IP318fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.IP318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Ins_p.P254fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.A321fs*100(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTTCGAGCCATCCCCCCCGCGC	0.683																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.960dupC	11.37:g.67176571_67176571dupC	ENSP00000443654:p.Ile318fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1D6	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A321fs	ENST00000542590.1	37	c.953_954	CCDS8162.1	11																																																																																			TBC1D10C	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000175463		0.683	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	13	0.00	0	-	NM_198517		67176564	67176565	+1	no_errors	ENST00000312390	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.995:0.756	C
TBX2	6909	genome.wustl.edu	37	17	59479053	59479054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:59479053_59479054insC	ENST00000240328.3	+	2	685_686	c.404_405insC	c.(403-408)ttccccfs	p.FP135fs	RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	135					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						AGGCGGATGTTCCCCCCCTTCA	0.564																																					GBM(3;187 253 11467 14965 23079)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.411dupC	17.37:g.59479060_59479060dupC	ENSP00000240328:p.Phe135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16424|Q7Z647	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.F138fs	ENST00000240328.3	37	c.404_405	CCDS11627.2	17																																																																																			TBX2	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000121068		0.564	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	23	0.00	0	-	NM_005994		59479053	59479054	+1	no_errors	ENST00000240328	ensembl	human	novel	69_37n	frame_shift_ins	7	22.22	2	INS	1.000:1.000	C
TNPO3	23534	genome.wustl.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:128610258_128610259insG	ENST00000265388.5	-	20	2684_2685	c.2541_2542insC	c.(2539-2544)ccctatfs	p.Y848fs	TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000393245.1_Frame_Shift_Ins_p.Y882fs|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2542dupC	7.37:g.128610265_128610265dupG	ENSP00000265388:p.Tyr848fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Ins	INS	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.Y881fs	ENST00000265388.5	37	c.2644_2643	CCDS5809.1	7																																																																																			TNPO3	-	NULL	ENSG00000064419		0.485	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	46	0.00	0	-	NM_012470		128610258	128610259	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	frame_shift_ins	33	23.26	10	INS	1.000:0.805	G
TNS1	7145	genome.wustl.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG71|Q6IPI5	In_Frame_Del	DEL	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q659in_frame_del	ENST00000171887.4	37	c.1978_1976	CCDS2407.1	2																																																																																			TNS1	-	NULL	ENSG00000079308		0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	43	0.00	0	GCT	NM_022648		218712887	218712889	-1	no_errors	ENST00000171887	ensembl	human	known	69_37n	in_frame_del	32	10.81	4	DEL	1.000:1.000:0.994	-
TRAF7	84231	genome.wustl.edu	37	16	2223196	2223196	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr16:2223196delG	ENST00000326181.6	+	10	940	c.808delG	c.(808-810)gggfs	p.G270fs		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	270					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACGTTCATCGGGAACCAGGA	0.632																																						dbGAP											0													58.0	43.0	48.0					16																	2223196		2191	4298	6489	-	-	-	SO:0001589	frameshift_variant	0			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.808delG	16.37:g.2223196delG	ENSP00000318944:p.Gly270fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H073	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N271fs	ENST00000326181.6	37	c.808	CCDS10461.1	16																																																																																			TRAF7	-	superfamily_TRAF-like,pfscan_Znf_TRAF	ENSG00000131653		0.632	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	36	0.00	0	G	NM_032271		2223196	2223196	+1	no_errors	ENST00000326181	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.999	-
TSPEAR	54084	genome.wustl.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR	p.R67fs	ENST00000323084.4	37	c.200_199	CCDS13712.1	21																																																																																			TSPEAR	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000175894		0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	47	0.00	0	-	NM_144991		45987772	45987773	-1	no_errors	ENST00000323084	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.067:0.978	G
TSPYL5	85453	genome.wustl.edu	37	8	98289663	98289664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:98289663_98289664insG	ENST00000322128.3	-	1	512_513	c.409_410insC	c.(409-411)cgcfs	p.R137fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	137					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATTT	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.410dupC	8.37:g.98289669_98289669dupG	ENSP00000322802:p.Arg137fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRF0|Q9C0B3	Frame_Shift_Ins	INS	pfam_NAP_family	p.R137fs	ENST00000322128.3	37	c.410_409	CCDS34927.1	8																																																																																			TSPYL5	-	NULL	ENSG00000180543		0.673	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	16	0.00	0	-	NM_033512		98289663	98289664	-1	no_errors	ENST00000322128	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.730:0.768	G
TTLL10	254173	genome.wustl.edu	37	1	1116222	1116223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr1:1116222_1116223insG	ENST00000379290.1	+	8	910_911	c.737_738insG	c.(736-741)ccggggfs	p.PG246fs	TTLL10_ENST00000379289.1_Frame_Shift_Ins_p.PG246fs|TTLL10_ENST00000379288.3_Frame_Shift_Ins_p.PG173fs|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCAAGGTGCCGGGGGGGGTCC	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.745dupG	1.37:g.1116230_1116230dupG	ENSP00000368592:p.Pro246fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Frame_Shift_Ins	INS	pfam_Tub_tyr_ligase	p.V249fs	ENST00000379290.1	37	c.737_738	CCDS44036.1	1																																																																																			TTLL10	-	NULL	ENSG00000162571		0.723	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	9	0.00	0	-	NM_153254		1116222	1116223	+1	no_errors	ENST00000379289	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	G
VAMP2	6844	genome.wustl.edu	37	17	8065660	8065661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr17:8065660_8065661insG	ENST00000316509.6	-	2	124_125	c.29_30insC	c.(28-30)cctfs	p.P10fs	VAMP2_ENST00000488857.1_Frame_Shift_Ins_p.P12fs|RP11-599B13.6_ENST00000498285.1_Frame_Shift_Ins_p.P10fs|VAMP2_ENST00000481878.1_Frame_Shift_Ins_p.P10fs|VAMP2_ENST00000404970.3_5'UTR	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	10					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCGT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"""Vesicle-associated membrane proteins"""	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.30dupC	17.37:g.8065667_8065667dupG	ENSP00000314214:p.Pro10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P19065|Q9BUC2	Frame_Shift_Ins	INS	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.A11fs	ENST00000316509.6	37	c.30_29	CCDS32561.1	17																																																																																			VAMP2	-	pirsf_Synaptobrevin_met/fun	ENSG00000220205		0.698	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VAMP2	HGNC	protein_coding	OTTHUMT00000317118.1	16	0.00	0	-			8065660	8065661	-1	no_errors	ENST00000316509	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.999:0.998	G
WNT16	51384	genome.wustl.edu	37	7	120971878	120971879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:120971878_120971879insG	ENST00000222462.2	+	3	783_784	c.493_494insG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Ins_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTGC	0.535																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.500dupG	7.37:g.120971885_120971885dupG	ENSP00000222462:p.Trp165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3G1|Q9Y5C0	Frame_Shift_Ins	INS	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.C168fs	ENST00000222462.2	37	c.493_494	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000002745		0.535	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	38	0.00	0	-	NM_057168		120971878	120971879	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:1.000	G
ZBED1	9189	genome.wustl.edu	37	X	2408674	2408674	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chrX:2408674G>T	ENST00000381223.4	-	2	290	c.87C>A	c.(85-87)ttC>ttA	p.F29L	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.F29L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.F29L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	29					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTCGAAGCCGAAATACTTCC	0.577																																						dbGAP											0													169.0	162.0	164.0					X																	2408674		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.87C>A	X.37:g.2408674G>T	ENSP00000370621:p.Phe29Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BY4	Missense_Mutation	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.F29L	ENST00000381223.4	37	c.87	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143038	0.21205	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.39	-3.32	0.04973	Zinc finger, BED-type predicted (3);	0.249733	0.24975	U	0.034110	T	0.61009	0.2313	.	.	.	0.09310	N	1	D	0.56521	0.976	D	0.75020	0.985	T	0.59873	-0.7372	8	0.54805	T	0.06	-10.5353	10.3763	0.44083	0.6672:0.0:0.3328:0.0	.	29	O96006	ZBED1_HUMAN	L	29	.	ENSP00000370616:F29L	F	-	3	2	ZBED1	2418674	0.995000	0.38212	0.674000	0.29902	0.542000	0.35054	0.151000	0.16283	-1.888000	0.01113	-1.289000	0.01358	TTC	ZBED1	-	pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd	ENSG00000214717		0.577	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	132	0.00	0	G	NM_004729		2408674	2408674	-1	no_errors	ENST00000381218	ensembl	human	known	69_37n	missense	60	25.00	20	SNP	0.994	T
ZFHX4	79776	genome.wustl.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403|rs13250763		TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.LG408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1230dupG	8.37:g.77617553_77617553dupG	ENSP00000430497:p.Leu408fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L411fs	ENST00000521891.2	37	c.1223_1224	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.535	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	55	0.00	0	-	NM_024721		77617546	77617547	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	1.000:1.000	G
ZNF519	162655	genome.wustl.edu	37	18	14124364	14124364	+	Missense_Mutation	SNP	T	T	A	rs192743927	byFrequency	TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr18:14124364T>A	ENST00000590202.1	-	2	267	c.115A>T	c.(115-117)Aac>Tac	p.N39Y	ZNF519_ENST00000589498.1_Missense_Mutation_p.N39Y|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAGACGAGGTTTCTGTAGTTC	0.408																																						dbGAP											0													67.0	71.0	70.0					18																	14124364		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.115A>T	18.37:g.14124364T>A	ENSP00000464872:p.Asn39Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		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.N39Y	ENST00000590202.1	37	c.115	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	T	8.973	0.973477	0.18736	.	.	ENSG00000175322	ENST00000309305	.	.	.	.	.	.	Krueppel-associated box (4);	.	.	.	.	T	0.63343	0.2503	H	0.97390	3.995	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.62576	-0.6825	6	0.87932	D	0	.	.	.	.	.	39	Q8TB69	ZN519_HUMAN	Y	39	.	ENSP00000307908:N39Y	N	-	1	0	ZNF519	14114364	0.735000	0.28153	0.242000	0.24170	0.256000	0.26092	1.690000	0.37711	0.077000	0.16863	0.076000	0.15429	AAC	ZNF519	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000175322		0.408	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	92	0.00	0	T	NM_145287		14124364	14124364	-1	no_errors	ENST00000590202	ensembl	human	known	69_37n	missense	39	48.00	36	SNP	0.254	A
ZNF862	643641	genome.wustl.edu	37	7	149561357	149561357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1NI-01A-11W-A16H-09	TCGA-E9-A1NI-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bf0b169-f870-4887-be06-414f20f1dcf0	cc9a8594-88b6-4f78-a840-9173a75e2fdb	g.chr7:149561357delC	ENST00000223210.4	+	8	3739	c.3494delC	c.(3493-3495)gccfs	p.A1165fs	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCCAGGAGGCCCCCGGGATG	0.617																																						dbGAP											0													19.0	21.0	20.0					7																	149561357		1910	4119	6029	-	-	-	SO:0001589	frameshift_variant	0			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3494delC	7.37:g.149561357delC	ENSP00000223210:p.Ala1165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUL8	Frame_Shift_Del	DEL	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.M1168fs	ENST00000223210.4	37	c.3494	CCDS47741.1	7																																																																																			ZNF862	-	NULL	ENSG00000106479		0.617	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	34	0.00	0	C	NM_001099220		149561357	149561357	+1	no_errors	ENST00000223210	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.000	-
