#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
ACOXL	55289	genome.wustl.edu	37	2	111551702	111551703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:111551702_111551703insA	ENST00000389811.4	+	5	520_521	c.296_297insA	c.(295-300)agcaacfs	p.SN99fs	ACOXL_ENST00000340561.4_Frame_Shift_Ins_p.SN99fs|ACOXL_ENST00000439055.1_Frame_Shift_Ins_p.SN99fs			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	99					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGCCATGGGAGCAACGCGAGAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	Exception_encountered	2.37:g.111551702_111551703insA	ENSP00000374461:p.Ser99fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Frame_Shift_Ins	INS	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	p.S99fs	ENST00000389811.4	37	c.296_297		2																																																																																			ACOXL	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	ENSG00000153093		0.559	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	HGNC	protein_coding	OTTHUMT00000254024.2	217	0.00	0	-	NM_018308		111551702	111551703	+1	no_errors	ENST00000439055	ensembl	human	known	69_37n	frame_shift_ins	260	81.56	1150	INS	1.000:1.000	A
ALDH16A1	126133	genome.wustl.edu	37	19	49969502	49969503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr19:49969502_49969503insG	ENST00000293350.4	+	14	2063_2064	c.1900_1901insG	c.(1900-1902)tggfs	p.W634fs	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Frame_Shift_Ins_p.W583fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Ins_p.W471fs|ALDH16A1_ENST00000433981.2_Frame_Shift_Ins_p.W469fs	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	634						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ACTTCGGGCGTGGGGGGCCCGG	0.718																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1906dupG	19.37:g.49969508_49969508dupG	ENSP00000293350:p.Trp634fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.A636fs	ENST00000293350.4	37	c.1900_1901	CCDS12766.1	19																																																																																			ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.718	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	46	0.00	0	-	NM_153329		49969502	49969503	+1	no_errors	ENST00000293350	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.880:0.992	G
AP4B1	10717	genome.wustl.edu	37	1	114445454	114445455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:114445454_114445455insG	ENST00000369569.1	-	2	423_424	c.143_144insC	c.(142-144)ggtfs	p.G48fs	DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Frame_Shift_Ins_p.G48fs|AP4B1_ENST00000256658.4_Frame_Shift_Ins_p.G48fs	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	48					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATAAAAACACCAGACATGTC	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.143_144insC	1.37:g.114445454_114445455insG	ENSP00000358582:p.Gly48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	Frame_Shift_Ins	INS	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu	p.V49fs	ENST00000369569.1	37	c.144_143	CCDS865.1	1																																																																																			AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu	ENSG00000134262		0.426	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	130	0.00	0	-	NM_006594		114445454	114445455	-1	no_errors	ENST00000256658	ensembl	human	known	69_37n	frame_shift_ins	98	38.75	62	INS	1.000:1.000	G
ASS1	445	genome.wustl.edu	37	9	133346274	133346274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr9:133346274delG	ENST00000372394.1	+	8	1030	c.549delG	c.(547-549)gagfs	p.E183fs	ASS1_ENST00000372393.3_Frame_Shift_Del_p.E183fs|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Frame_Shift_Del_p.E183fs			P00966	ASSY_HUMAN	argininosuccinate synthase 1	183					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCATGGATGAGAACCTCATGC	0.607																																						dbGAP											0													177.0	180.0	179.0					9																	133346274		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.549delG	9.37:g.133346274delG	ENSP00000361471:p.Glu183fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LDL2|Q86UZ0|Q96GT4	Frame_Shift_Del	DEL	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.N184fs	ENST00000372394.1	37	c.549	CCDS6933.1	9																																																																																			ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth	ENSG00000130707		0.607	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	73	0.00	0	G	NM_000050		133346274	133346274	+1	no_errors	ENST00000334909	ensembl	human	known	69_37n	frame_shift_del	27	61.64	45	DEL	1.000	-
AWAT2	158835	genome.wustl.edu	37	X	69262054	69262054	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrX:69262054C>T	ENST00000276101.3	-	6	835	c.830G>A	c.(829-831)cGg>cAg	p.R277Q		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	277					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGTTACAGGCCGACTATAGGG	0.552																																					NSCLC(80;1334 1436 9350 24214 26427)	dbGAP											0													64.0	52.0	56.0					X																	69262054		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.830G>A	X.37:g.69262054C>T	ENSP00000421172:p.Arg277Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE3|Q6P437	Missense_Mutation	SNP	pfam_DAGAT	p.R277Q	ENST00000276101.3	37	c.830	CCDS35320.1	X	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.216890	0.06101	.	.	ENSG00000147160	ENST00000276101	T	0.14144	2.53	5.04	-4.18	0.03846	.	0.707038	0.13062	N	0.416846	T	0.10465	0.0256	L	0.49350	1.555	0.09310	N	1	B	0.20671	0.047	B	0.17979	0.02	T	0.16808	-1.0390	10	0.41790	T	0.15	.	6.7327	0.23393	0.1235:0.2831:0.0:0.5934	.	277	Q6E213	AWAT2_HUMAN	Q	277	ENSP00000421172:R277Q	ENSP00000421172:R277Q	R	-	2	0	AWAT2	69178779	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.310000	0.08135	-1.416000	0.02019	-0.205000	0.12727	CGG	AWAT2	-	pfam_DAGAT	ENSG00000147160		0.552	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	102	0.00	0	C	NM_001002254		69262054	69262054	-1	no_errors	ENST00000276101	ensembl	human	known	69_37n	missense	131	13.25	20	SNP	0.002	T
BCAR3	8412	genome.wustl.edu	37	1	94057926	94057926	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:94057926C>T	ENST00000370244.1	-	6	670	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000412628.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.D128N|RP5-1033H22.2_ENST00000431770.1_RNA|RP5-1033H22.2_ENST00000446684.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.D37N|BCAR3_ENST00000260502.6_Missense_Mutation_p.D128N	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	128					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGGGTCCTGTCCATGATGTGC	0.637																																						dbGAP											0													77.0	74.0	75.0					1																	94057926		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.382G>A	1.37:g.94057926C>T	ENSP00000359264:p.Asp128Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.D128N	ENST00000370244.1	37	c.382	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.116823	0.94385	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	T;T;T;T	0.28069	1.63;1.77;1.77;1.77	5.61	5.61	0.85477	.	0.084546	0.85682	D	0.000000	T	0.45637	0.1352	M	0.68952	2.095	0.80722	D	1	D;D	0.62365	0.991;0.975	P;P	0.60949	0.881;0.776	T	0.36335	-0.9752	10	0.54805	T	0.06	-8.9019	19.6434	0.95767	0.0:1.0:0.0:0.0	.	128;37	O75815;Q5TEW3	BCAR3_HUMAN;.	N	37;128;128;128	ENSP00000359267:D37N;ENSP00000260502:D128N;ENSP00000359264:D128N;ENSP00000359263:D128N	ENSP00000260502:D128N	D	-	1	0	BCAR3	93830514	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	5.663000	0.68038	2.647000	0.89833	0.563000	0.77884	GAC	BCAR3	-	NULL	ENSG00000137936		0.637	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	69	0.00	0	C			94057926	94057926	-1	no_errors	ENST00000260502	ensembl	human	known	69_37n	missense	50	29.58	21	SNP	1.000	T
BMS1P5	399761	genome.wustl.edu	37	10	48941207	48941207	+	RNA	SNP	T	T	C	rs199507212		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr10:48941207T>C	ENST00000449800.1	-	0	1066					NR_003611.2				BMS1 pseudogene 5																		TGATTATCTATAGCCTCTGAC	0.393																																						dbGAP											0																																										-	-	-			0					10q11.22	2013-05-22	2007-03-20	2007-03-20	ENSG00000204164				23653	pseudogene	pseudogene			"""BMS1L pseudogene 5"""	BMS1LP5			Standard	NR_003611		Approved	bA508M1.1, OTTHUMG00000018157			OTTHUMG00000018157		10.37:g.48941207T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000449800.1	37	NULL		10																																																																																			RP11-508M1.3	-	-	ENSG00000204164		0.393	BMS1P5-002	KNOWN	basic	processed_transcript	BMS1P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000047906.1	10	0.00	0	T			48941207	48941207	-1	no_errors	ENST00000436180	ensembl	human	known	69_37n	rna	7	53.33	8	SNP	0.995	C
BTN3A2	11118	genome.wustl.edu	37	6	26368860	26368860	+	Silent	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:26368860C>T	ENST00000356386.2	+	4	341	c.153C>T	c.(151-153)ccC>ccT	p.P51P	BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_Silent_p.P51P|BTN3A2_ENST00000508906.2_Silent_p.P9P|BTN3A2_ENST00000396934.3_Silent_p.P28P|BTN3A2_ENST00000527422.1_Silent_p.P51P|BTN3A2_ENST00000396948.1_Silent_p.P51P	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	51	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTGATCTGCCCTGTCACCTGT	0.567																																						dbGAP											0													126.0	101.0	109.0					6																	26368860		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.153C>T	6.37:g.26368860C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P51	ENST00000356386.2	37	c.153	CCDS4605.1	6																																																																																			BTN3A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000186470		0.567	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	229	0.00	0	C			26368860	26368860	+1	no_errors	ENST00000356386	ensembl	human	known	69_37n	silent	254	15.61	47	SNP	0.681	T
HEATR4	399671	genome.wustl.edu	37	14	73958591	73958594	+	Intron	DEL	CCAG	CCAG	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	CCAG	CCAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr14:73958591_73958594delCCAG	ENST00000553558.1	-	17	3166				HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCTGTACCAGGCCGGCTGCT	0.637																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1175CTGG>-	14.37:g.73958591_73958594delCCAG		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7V9|E9KL41	RNA	DEL	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-	ENSG00000255242		0.637	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	11	0.00	0	CCAG	NM_203309		73958591	73958594	+1	no_errors	ENST00000531973	ensembl	human	known	69_37n	rna	4	73.33	11	DEL	1.000:1.000:1.000:1.000	-
C19orf40	91442	genome.wustl.edu	37	19	33464409	33464409	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr19:33464409delA	ENST00000588258.1	+	3	294	c.184delA	c.(184-186)accfs	p.T62fs	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590281.1_Frame_Shift_Del_p.T62fs|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	62					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCTTTATGTCACCGAAGCTGA	0.433								Direct reversal of damage																														dbGAP											0													158.0	148.0	152.0					19																	33464409		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.184delA	19.37:g.33464409delA	ENSP00000466121:p.Thr62fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY46|Q8WUJ7|Q96FX6	Frame_Shift_Del	DEL	superfamily_RuvA_2-like	p.T62fs	ENST00000588258.1	37	c.184	CCDS12426.1	19																																																																																			C19orf40	-	NULL	ENSG00000131944		0.433	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf40	HGNC	protein_coding	OTTHUMT00000450823.2	204	0.00	0	A	NM_152266		33464409	33464409	+1	no_errors	ENST00000588258	ensembl	human	known	69_37n	frame_shift_del	93	66.85	244	DEL	1.000	-
CCND3	896	genome.wustl.edu	37	6	41909275	41909275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:41909275delT	ENST00000372991.4	-	1	311	c.113delA	c.(112-114)tacfs	p.Y38fs	CCND3_ENST00000372988.4_Intron|CCND3_ENST00000372987.4_5'Flank|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000414200.2_Frame_Shift_Del_p.Y38fs|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	38	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGGGTACGTAGCGCTCCTC	0.706			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0													18.0	18.0	18.0					6																	41909275		2202	4297	6499	-	-	-	SO:0001589	frameshift_variant	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.113delA	6.37:g.41909275delT	ENSP00000362082:p.Tyr38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Y38fs	ENST00000372991.4	37	c.113	CCDS4863.1	6																																																																																			CCND3	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000112576		0.706	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	16	0.00	0	T	NM_001760		41909275	41909275	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	frame_shift_del	7	41.67	5	DEL	1.000	-
CCND3	896	genome.wustl.edu	37	6	41909280	41909281	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:41909280_41909281insA	ENST00000372991.4	-	1	305_306	c.107_108insT	c.(106-108)gagfs	p.E36fs	CCND3_ENST00000372988.4_Intron|CCND3_ENST00000372987.4_5'Flank|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000414200.2_Frame_Shift_Ins_p.E36fs|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	36	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTACGTAGCGCTCCTCCAGGCG	0.703			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.107_108insT	6.37:g.41909280_41909281insA	ENSP00000362082:p.Glu36fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Ins	INS	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.E36fs	ENST00000372991.4	37	c.108_107	CCDS4863.1	6																																																																																			CCND3	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000112576		0.703	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	14	0.00	0	-	NM_001760		41909280	41909281	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	1.000:1.000	A
CCND3	896	genome.wustl.edu	37	6	41909284	41909284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:41909284delT	ENST00000372991.4	-	1	302	c.104delA	c.(103-105)gagfs	p.E36fs	CCND3_ENST00000372988.4_Intron|CCND3_ENST00000372987.4_5'Flank|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000414200.2_Frame_Shift_Del_p.E36fs|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	36	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGCGCTCCTCCAGGCGGAG	0.697			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0													16.0	16.0	16.0					6																	41909284		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.104delA	6.37:g.41909284delT	ENSP00000362082:p.Glu36fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.E35fs	ENST00000372991.4	37	c.104	CCDS4863.1	6																																																																																			CCND3	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000112576		0.697	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	14	0.00	0	T	NM_001760		41909284	41909284	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	frame_shift_del	6	40.00	4	DEL	1.000	-
CCND3	896	genome.wustl.edu	37	6	41909290	41909291	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:41909290_41909291insAT	ENST00000372991.4	-	1	295_296	c.97_98insAT	c.(97-99)cgcfs	p.R33fs	CCND3_ENST00000372988.4_Intron|CCND3_ENST00000372987.4_5'Flank|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000414200.2_Frame_Shift_Ins_p.R33fs|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	33	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCTCCAGGCGGAGCAGGCTC	0.688			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.97_98insAT	6.37:g.41909290_41909291insAT	ENSP00000362082:p.Arg33fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Ins	INS	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R33fs	ENST00000372991.4	37	c.98_97	CCDS4863.1	6																																																																																			CCND3	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000112576		0.688	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	12	0.00	0	-	NM_001760		41909290	41909291	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	frame_shift_ins	5	44.44	4	INS	1.000:1.000	AT
CGNL1	84952	genome.wustl.edu	37	15	57730943	57730943	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:57730943C>T	ENST00000281282.5	+	2	824	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	249	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGAGGAGGCCCTTTTCACT	0.562																																						dbGAP											0													73.0	79.0	77.0					15																	57730943		2192	4292	6484	-	-	-	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.746C>T	15.37:g.57730943C>T	ENSP00000281282:p.Ala249Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.A249V	ENST00000281282.5	37	c.746	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370757	0.11409	.	.	ENSG00000128849	ENST00000281282	T	0.75704	-0.96	4.77	2.81	0.32909	.	0.567853	0.15977	N	0.235470	T	0.63931	0.2553	L	0.36672	1.1	0.09310	N	1	B	0.24823	0.112	B	0.16722	0.016	T	0.56745	-0.7928	10	0.62326	D	0.03	-3.4021	11.4069	0.49902	0.1417:0.722:0.1363:0.0	.	249	Q0VF96	CGNL1_HUMAN	V	249	ENSP00000281282:A249V	ENSP00000281282:A249V	A	+	2	0	CGNL1	55518235	0.007000	0.16637	0.385000	0.26158	0.194000	0.23727	0.474000	0.22148	0.556000	0.29098	0.650000	0.86243	GCC	CGNL1	-	NULL	ENSG00000128849		0.562	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	102	0.00	0	C	NM_032866		57730943	57730943	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	missense	72	37.93	44	SNP	0.128	T
CLHC1	130162	genome.wustl.edu	37	2	55408757	55408757	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:55408757C>A	ENST00000401408.1	-	10	1475	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	CLHC1_ENST00000407122.1_Missense_Mutation_p.G377V|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.G255V|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	377																	TTCTGATAATCCACATTTGAT	0.358																																						dbGAP											0													87.0	80.0	82.0					2																	55408757		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1130G>T	2.37:g.55408757C>A	ENSP00000384869:p.Gly377Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.G377V	ENST00000401408.1	37	c.1130	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476318	0.44044	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.36699	1.24;1.24;1.24	5.78	3.85	0.44370	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.204155	0.33772	N	0.004567	T	0.31857	0.0810	M	0.63428	1.95	0.80722	D	1	P	0.42620	0.785	B	0.35470	0.203	T	0.15780	-1.0425	10	0.24483	T	0.36	-20.9068	13.4385	0.61099	0.0:0.5951:0.4049:0.0	.	377	Q8NHS4	CB063_HUMAN	V	377;377;255	ENSP00000385778:G377V;ENSP00000384869:G377V;ENSP00000385512:G255V	ENSP00000384869:G377V	G	-	2	0	C2orf63	55262261	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	2.079000	0.41577	1.564000	0.49628	0.591000	0.81541	GGA	CLHC1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	ENSG00000162994		0.358	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	99	0.00	0	C	NM_152385		55408757	55408757	-1	no_errors	ENST00000401408	ensembl	human	known	69_37n	missense	100	22.31	29	SNP	0.990	A
CMIP	80790	genome.wustl.edu	37	16	81739192	81739193	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr16:81739192_81739193delGC	ENST00000537098.3	+	19	2252_2253	c.2180_2181delGC	c.(2179-2181)ggcfs	p.G727fs	CMIP_ENST00000398040.4_Frame_Shift_Del_p.G574fs|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Frame_Shift_Del_p.G633fs	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	727						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						ACAGACGCTGGCCTGCTGGCCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2180_2181delGC	16.37:g.81739192_81739193delGC	ENSP00000446100:p.Gly727fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0G9	Frame_Shift_Del	DEL	NULL	p.G727fs	ENST00000537098.3	37	c.2180_2181	CCDS54044.1	16																																																																																			CMIP	-	NULL	ENSG00000153815		0.624	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	9	0.00	0	GC	NM_030629		81739192	81739193	+1	no_errors	ENST00000537098	ensembl	human	known	69_37n	frame_shift_del	2	77.78	7	DEL	1.000:0.909	-
DENND4B	9909	genome.wustl.edu	37	1	153916828	153916829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:153916828_153916829insG	ENST00000361217.4	-	2	440_441	c.22_23insC	c.(22-24)cggfs	p.R8fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	8					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCCACCAGCCGGGGGGGCCGC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.23dupC	1.37:g.153916835_153916835dupG	ENSP00000354597:p.Arg8fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Frame_Shift_Ins	INS	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R8fs	ENST00000361217.4	37	c.23_22	CCDS44228.1	1																																																																																			DENND4B	-	pfscan_uDENN_dom	ENSG00000198837		0.644	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	18	0.00	0	-	XM_375806		153916828	153916829	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:1.000	G
DIRC2	84925	genome.wustl.edu	37	3	122545885	122545885	+	Missense_Mutation	SNP	G	G	A	rs139292426	byFrequency	TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:122545885G>A	ENST00000261038.5	+	3	1074	c.676G>A	c.(676-678)Gat>Aat	p.D226N		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	226					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATATTAAAGATCGCATAGA	0.403																																						dbGAP											0													113.0	104.0	107.0					3																	122545885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.676G>A	3.37:g.122545885G>A	ENSP00000261038:p.Asp226Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.D226N	ENST00000261038.5	37	c.676	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571154	0.45798	.	.	ENSG00000138463	ENST00000261038	D	0.91124	-2.79	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.172435	0.64402	D	0.000008	D	0.85839	0.5790	L	0.28192	0.835	0.47862	D	0.999536	B	0.10296	0.003	B	0.10450	0.005	T	0.79217	-0.1894	10	0.25751	T	0.34	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	226	Q96SL1	DIRC2_HUMAN	N	226	ENSP00000261038:D226N	ENSP00000261038:D226N	D	+	1	0	DIRC2	124028575	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.695000	0.61767	2.810000	0.96702	0.650000	0.86243	GAT	DIRC2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138463		0.403	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	110	0.00	0	G	NM_032839		122545885	122545885	+1	no_errors	ENST00000261038	ensembl	human	known	69_37n	missense	178	25.83	62	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84774616	84774616	+	Splice_Site	SNP	G	G	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:84774616G>T	ENST00000237449.6	+	6	1074	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	DNAH6_ENST00000398278.2_Splice_Site_p.V356L|DNAH6_ENST00000389394.3_Splice_Site_p.V356L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	356	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAATATCTAGGTGACAGAACG	0.388																																						dbGAP											0													210.0	175.0	185.0					2																	84774616		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1066-1G>T	2.37:g.84774616G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V356L	ENST00000237449.6	37	c.1066	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084272	0.36758	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26660	1.72;1.85;1.72	5.35	5.35	0.76521	.	.	.	.	.	T	0.28896	0.0717	L	0.58428	1.81	0.41015	D	0.985033	B	0.14012	0.009	B	0.15870	0.014	T	0.05209	-1.0899	8	.	.	.	.	17.8272	0.88669	0.0:0.0:1.0:0.0	.	356	Q9C0G6	DYH6_HUMAN	L	356	ENSP00000374045:V356L;ENSP00000381326:V356L;ENSP00000237449:V356L	.	V	+	1	0	DNAH6	84628127	1.000000	0.71417	0.998000	0.56505	0.290000	0.27261	5.067000	0.64357	2.501000	0.84356	0.591000	0.81541	GTG	DNAH6	-	NULL	ENSG00000115423		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	273	0.00	0	G	NM_001370	Missense_Mutation	84774616	84774616	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	170	18.66	39	SNP	1.000	T
EPB41L2	2037	genome.wustl.edu	37	6	131206388	131206389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:131206388_131206389insT	ENST00000337057.3	-	12	1861_1862	c.1680_1681insA	c.(1678-1683)gaccaafs	p.Q561fs	EPB41L2_ENST00000525193.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000527659.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000445890.2_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000527411.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000529208.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000368128.2_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000392427.3_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000525271.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000530757.1_5'Flank|EPB41L2_ENST00000530481.1_Frame_Shift_Ins_p.Q561fs|EPB41L2_ENST00000528282.1_Frame_Shift_Ins_p.Q561fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	561	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAGACTTTGGTCCATGACAC	0.446											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1680_1681insA	6.37:g.131206388_131206389insT	ENSP00000338481:p.Gln561fs	Somatic	1586	WXS	Illumina GAIIx	Phase_IV	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Frame_Shift_Ins	INS	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.Q560fs	ENST00000337057.3	37	c.1681_1680	CCDS5141.1	6																																																																																			EPB41L2	-	pirsf_Band_41_protein	ENSG00000079819		0.446	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	209	0.00	0	-			131206388	131206389	-1	no_errors	ENST00000337057	ensembl	human	known	69_37n	frame_shift_ins	157	61.99	256	INS	1.000:1.000	T
FAM129A	116496	genome.wustl.edu	37	1	184764568	184764568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:184764568delC	ENST00000367511.3	-	14	2523	c.2330delG	c.(2329-2331)tgtfs	p.C777fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	777	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGCCTCGGGACAGGGAGGTTG	0.627																																						dbGAP											0													162.0	178.0	173.0					1																	184764568		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2330delG	1.37:g.184764568delC	ENSP00000356481:p.Cys777fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Del	DEL	NULL	p.C777fs	ENST00000367511.3	37	c.2330	CCDS1364.1	1																																																																																			FAM129A	-	NULL	ENSG00000135842		0.627	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	135	0.00	0	C			184764568	184764568	-1	no_errors	ENST00000367511	ensembl	human	known	69_37n	frame_shift_del	89	37.58	56	DEL	0.000	-
GAPVD1	26130	genome.wustl.edu	37	9	128117999	128117999	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr9:128117999G>A	ENST00000495955.1	+	25	4178	c.3888G>A	c.(3886-3888)atG>atA	p.M1296I	GAPVD1_ENST00000297933.6_Missense_Mutation_p.M1278I|GAPVD1_ENST00000265956.4_Missense_Mutation_p.M1270I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.M1305I|GAPVD1_ENST00000394083.2_Missense_Mutation_p.M1230I|GAPVD1_ENST00000394104.2_Missense_Mutation_p.M1296I|GAPVD1_ENST00000470056.1_Missense_Mutation_p.M1251I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.M1257I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1296					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGGTGCAATGGCCCAGGATG	0.443																																						dbGAP											0													69.0	67.0	67.0					9																	128117999		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3888G>A	9.37:g.128117999G>A	ENSP00000419063:p.Met1296Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.M1305I	ENST00000495955.1	37	c.3915		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.301698|4.301698	0.81136|0.81136	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123|ENST00000438537	T;T;T;T;T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69|.	6.1|6.1	6.1|6.1	0.99115|0.99115	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62344|.	0.2420|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.19935|.	0.025;0.008;0.04;0.04;0.04;0.022|.	B;B;B;B;B;B|.	0.21151|.	0.015;0.014;0.025;0.025;0.025;0.033|.	T|.	0.55736|.	-0.8094|.	10|.	0.33940|0.36615	T|T	0.23|0.2	.|.	19.7028|19.7028	0.96062|0.96062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1296;311;1251;1257;1278;1305|.	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	GAPD1_HUMAN;.;.;.;.;.|.	I|X	1251;1305;1296;1270;1230;1296;1278;1257|4	ENSP00000419767:M1251I;ENSP00000377665:M1305I;ENSP00000377664:M1296I;ENSP00000265956:M1270I;ENSP00000377645:M1230I;ENSP00000419063:M1296I;ENSP00000297933:M1278I;ENSP00000309582:M1257I|.	ENSP00000265956:M1270I|ENSP00000401017:W4X	M|W	+|+	3|2	0|0	GAPVD1|GAPVD1	127157820|127157820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.476000|9.476000	0.97823|0.97823	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	ATG|TGG	GAPVD1	-	NULL	ENSG00000165219		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	62	0.00	0	G			128117999	128117999	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	1.000	A
GARNL3	84253	genome.wustl.edu	37	9	130153011	130153011	+	Silent	SNP	C	C	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr9:130153011C>A	ENST00000373387.4	+	27	3187	c.2835C>A	c.(2833-2835)ccC>ccA	p.P945P	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Silent_p.P923P	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	945					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAGGAGGCCCCAAGCCAGGGG	0.582																																						dbGAP											0													77.0	89.0	85.0					9																	130153011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2835C>A	9.37:g.130153011C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.P945	ENST00000373387.4	37	c.2835	CCDS6869.2	9																																																																																			GARNL3	-	NULL	ENSG00000136895		0.582	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	134	0.00	0	C	NM_032293		130153011	130153011	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	silent	163	16.33	32	SNP	0.998	A
GPHN	10243	genome.wustl.edu	37	14	67555794	67555794	+	Splice_Site	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr14:67555794delT	ENST00000315266.5	+	11	2259		c.e11+2		GPHN_ENST00000305960.9_Splice_Site|GPHN_ENST00000543237.1_Splice_Site|GPHN_ENST00000478722.1_Splice_Site|GPHN_ENST00000544752.2_Splice_Site	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTGTCCGAGGTAAATATTTTG	0.338			T	MLL	AL																																	dbGAP		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													68.0	64.0	65.0					14																	67555794		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1138+2T>-	14.37:g.67555794delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4E9|Q9P2G2	Splice_Site	DEL	-	e12+2	ENST00000315266.5	37	c.1237+2	CCDS32103.1	14																																																																																			GPHN	-	-	ENSG00000171723		0.338	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	104	0.00	0	T	NM_020806	Intron	67555794	67555794	+1	no_errors	ENST00000478722	ensembl	human	known	69_37n	splice_site_del	71	49.67	76	DEL	1.000	-
HECTD4	283450	genome.wustl.edu	37	12	112623045	112623046	+	Frame_Shift_Ins	INS	-	-	C	rs368404348		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr12:112623045_112623046insC	ENST00000430131.2	-	60	9603_9604	c.8458_8459insG	c.(8458-8460)gcgfs	p.A2820fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A3096fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A3070fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2820					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)										Accggccgccgcccccccggag	0.639																																						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.8459dupG	12.37:g.112623052_112623052dupC	ENSP00000404379:p.Ala2820fs	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.A3070fs	ENST00000430131.2	37	c.9209_9208		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.639	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		25	0.00	0	-	NM_173813		112623045	112623046	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_ins	16	27.27	6	INS	0.000:0.001	C
HERC2	8924	genome.wustl.edu	37	15	28389827	28389828	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:28389827_28389828delGG	ENST00000261609.7	-	72	11239_11240	c.11131_11132delCC	c.(11131-11133)ccafs	p.P3711fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAGCAGCTGGCATGATGGGA	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11131_11132delCC	15.37:g.28389827_28389828delGG	ENSP00000261609:p.Pro3711fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.P3711fs	ENST00000261609.7	37	c.11132_11131	CCDS10021.1	15																																																																																			HERC2	-	NULL	ENSG00000128731		0.554	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	97	0.00	0	GG	NM_004667		28389827	28389828	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	frame_shift_del	101	39.16	65	DEL	1.000:1.000	-
HERC2	8924	genome.wustl.edu	37	15	28389831	28389834	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	TGAT	TGAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:28389831_28389834delTGAT	ENST00000261609.7	-	72	11233_11236	c.11125_11128delATCA	c.(11125-11130)atcatgfs	p.IM3709fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGCTGGCATGATGGGATAGACG	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11125_11128delATCA	15.37:g.28389831_28389834delTGAT	ENSP00000261609:p.Ile3709fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.I3709fs	ENST00000261609.7	37	c.11128_11125	CCDS10021.1	15																																																																																			HERC2	-	superfamily_CUB	ENSG00000128731		0.554	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	101	0.00	0	TGAT	NM_004667		28389831	28389834	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	frame_shift_del	98	39.88	65	DEL	1.000:1.000:1.000:1.000	-
HSPA2	3306	genome.wustl.edu	37	14	65008807	65008807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr14:65008807delA	ENST00000394709.1	+	2	1316	c.1240delA	c.(1240-1242)accfs	p.T414fs	HSPA2_ENST00000247207.6_Frame_Shift_Del_p.T414fs|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	414					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGTGTCATGACCCCACTCAT	0.582																																					Pancreas(136;1211 1835 24894 31984 38227)	dbGAP											0													78.0	68.0	71.0					14																	65008807		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1240delA	14.37:g.65008807delA	ENSP00000378199:p.Thr414fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15508|Q53XM3|Q9UE78	Frame_Shift_Del	DEL	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.T414fs	ENST00000394709.1	37	c.1240	CCDS9766.1	14																																																																																			HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.582	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	22	0.00	0	A			65008807	65008807	+1	no_errors	ENST00000247207	ensembl	human	known	69_37n	frame_shift_del	16	36.00	9	DEL	1.000	-
IQSEC1	9922	genome.wustl.edu	37	3	12950804	12950804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:12950804delT	ENST00000273221.4	-	11	2805	c.2589delA	c.(2587-2589)gaafs	p.E863fs		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	863	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCTTGGACTTCCGCAATGG	0.537																																						dbGAP											0													135.0	138.0	137.0					3																	12950804		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2589delA	3.37:g.12950804delT	ENSP00000273221:p.Glu863fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94863|Q96D85	Frame_Shift_Del	DEL	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.V864fs	ENST00000273221.4	37	c.2589	CCDS33703.1	3																																																																																			IQSEC1	-	smart_Pleckstrin_homology	ENSG00000144711		0.537	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	64	0.00	0	T	NM_014869		12950804	12950804	-1	no_errors	ENST00000273221	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
KATNAL2	83473	genome.wustl.edu	37	18	44595970	44595973	+	Splice_Site	DEL	GGGT	GGGT	-	rs200386880		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	GGGT	GGGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr18:44595970_44595973delGGGT	ENST00000245121.5	+	10	985_986	c.791_792delGGGT	c.(790-792)cgg>c	p.R264fs	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Splice_Site_p.R336fs	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAACTCGTTCGGGTAGGAATTCTT	0.368																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.792+1GGGT>-	18.37:g.44595970_44595973delGGGT		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.L266fs	ENST00000245121.5	37	c.791_792	CCDS32828.1	18																																																																																			KATNAL2	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	ENSG00000167216		0.368	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	207	0.00	0	GGGT	NM_031303	Frame_Shift_Del	44595970	44595973	+1	no_errors	ENST00000245121	ensembl	human	known	69_37n	frame_shift_del	193	42.94	146	DEL	1.000:1.000	-
KAZN	23254	genome.wustl.edu	37	1	15392250	15392250	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:15392250G>A	ENST00000376030.2	+	8	1516		c.e8+1		KAZN_ENST00000400798.2_Missense_Mutation_p.G314D|KAZN_ENST00000422387.2_Missense_Mutation_p.G408D|KAZN_ENST00000400797.3_Missense_Mutation_p.G314D|KAZN_ENST00000503743.1_Missense_Mutation_p.G408D|KAZN_ENST00000361144.5_Missense_Mutation_p.G402D	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein						keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTCTTTGATGGTACCGCCCCT	0.602																																						dbGAP											0													58.0	62.0	60.0					1																	15392250		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1222+1G>A	1.37:g.15392250G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Splice_Site	SNP	-	e8+1	ENST00000376030.2	37	c.1222+1	CCDS152.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.710125|4.710125	0.89018|0.89018	.|.	.|.	ENSG00000189337|ENSG00000189337	ENST00000376030|ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80121	.|0.4565	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999961|0.999961	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	.|T	.|0.80567	.|-0.1325	.|6	.|.	.|.	.|.	.|-19.7325	18.147|18.147	0.89661|0.89661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|408;402	.|Q674X7-2;Q674X7-3	.|.;.	.|D	-1|408;408;402;314;314	.|.	.|.	.|G	+|+	.|2	.|0	KAZN|KAZN	15264837|15264837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.105000|9.105000	0.94246|0.94246	2.516000|2.516000	0.84829|0.84829	0.313000|0.313000	0.20887|0.20887	.|GGT	KAZN	-	-	ENSG00000189337		0.602	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	60	0.00	0	G	NM_001017999	Intron	15392250	15392250	+1	no_errors	ENST00000376030	ensembl	human	known	69_37n	splice_site	26	42.22	19	SNP	1.000	A
KRT8	3856	genome.wustl.edu	37	12	53295661	53295662	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr12:53295661_53295662insT	ENST00000552551.1	-	3	951_952	c.519_520insA	c.(517-522)gaggacfs	p.D174fs	KRT8_ENST00000293308.6_Frame_Shift_Ins_p.D174fs|KRT8_ENST00000546897.1_Frame_Shift_Ins_p.D174fs|KRT8_ENST00000552150.1_Frame_Shift_Ins_p.D202fs			P05787	K2C8_HUMAN	keratin 8	174	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TTCTTGAAGTCCTCCACCAGCC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.519_520insA	12.37:g.53295661_53295662insT	ENSP00000447566:p.Asp174fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.D173fs	ENST00000552551.1	37	c.520_519	CCDS8841.1	12																																																																																			KRT8	-	pfam_F,prints_Keratin_II,prints_Keratin_I	ENSG00000170421		0.594	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1	158	0.00	0	-	NM_002273		53295661	53295662	-1	no_errors	ENST00000293308	ensembl	human	known	69_37n	frame_shift_ins	55	46.60	48	INS	1.000:1.000	T
KRT8	3856	genome.wustl.edu	37	12	53295662	53295663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr12:53295662_53295663insT	ENST00000552551.1	-	3	950_951	c.518_519insA	c.(517-519)gagfs	p.E173fs	KRT8_ENST00000293308.6_Frame_Shift_Ins_p.E173fs|KRT8_ENST00000546897.1_Frame_Shift_Ins_p.E173fs|KRT8_ENST00000552150.1_Frame_Shift_Ins_p.E201fs			P05787	K2C8_HUMAN	keratin 8	173	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TCTTGAAGTCCTCCACCAGCCC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.519dupA	12.37:g.53295663_53295663dupT	ENSP00000447566:p.Glu173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.D174fs	ENST00000552551.1	37	c.519_518	CCDS8841.1	12																																																																																			KRT8	-	pfam_F,prints_Keratin_II,prints_Keratin_I	ENSG00000170421		0.589	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1	156	0.00	0	-	NM_002273		53295662	53295663	-1	no_errors	ENST00000293308	ensembl	human	known	69_37n	frame_shift_ins	50	48.98	48	INS	1.000:1.000	T
KRTAP4-9	100132386	genome.wustl.edu	37	17	39262140	39262140	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr17:39262140C>A	ENST00000391415.1	+	1	557	c.500C>A	c.(499-501)tCc>tAc	p.S167Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	167	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgctgtgaatccagctgctgc	0.657																																						dbGAP											0													11.0	15.0	14.0					17																	39262140		686	1584	2270	-	-	-	SO:0001583	missense	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.500C>A	17.37:g.39262140C>A	ENSP00000375234:p.Ser167Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Keratin-assoc	p.S167Y	ENST00000391415.1	37	c.500	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	9.039	0.989097	0.18966	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00605	6.27	2.68	2.68	0.31781	.	0.784192	0.10453	U	0.672864	T	0.02888	0.0086	M	0.87269	2.87	0.22880	N	0.998615	D	0.59357	0.985	P	0.62813	0.907	T	0.30592	-0.9973	10	0.72032	D	0.01	.	11.0545	0.47909	0.0:1.0:0.0:0.0	.	167	Q9BYQ8	KRA49_HUMAN	Y	155;167;158	ENSP00000375234:S167Y	ENSP00000334461:S158Y	S	+	2	0	KRTAP4-9	36515666	.	.	0.386000	0.26170	0.350000	0.29205	.	.	1.192000	0.43071	0.313000	0.20887	TCC	KRTAP4-9	-	NULL	ENSG00000212722		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	139	0.00	0	C	NM_001146041		39262140	39262140	+1	no_errors	ENST00000391415	ensembl	human	known	69_37n	missense	95	21.49	26	SNP	0.896	A
LCMT2	9836	genome.wustl.edu	37	15	43621743	43621743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:43621743delG	ENST00000305641.5	-	1	1060	c.945delC	c.(943-945)gacfs	p.D315fs	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	315					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGGAGAGGGTGTCTCCCCTAG	0.527																																						dbGAP											0													59.0	63.0	62.0					15																	43621743		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.945delC	15.37:g.43621743delG	ENSP00000307214:p.Asp315fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT6|Q96B55|Q9NR10	Frame_Shift_Del	DEL	pfam_LCM_MeTrfase	p.D315fs	ENST00000305641.5	37	c.945	CCDS10094.1	15																																																																																			LCMT2	-	NULL	ENSG00000168806		0.527	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	31	0.00	0	G	NM_014793		43621743	43621743	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	frame_shift_del	16	76.47	52	DEL	0.001	-
LCMT2	9836	genome.wustl.edu	37	15	43621750	43621751	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:43621750_43621751delCT	ENST00000305641.5	-	1	1052_1053	c.937_938delAG	c.(937-939)aggfs	p.R313fs	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	313					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGTGTCTCCCCTAGAAGCTGCC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.937_938delAG	15.37:g.43621750_43621751delCT	ENSP00000307214:p.Arg313fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT6|Q96B55|Q9NR10	Frame_Shift_Del	DEL	pfam_LCM_MeTrfase	p.R313fs	ENST00000305641.5	37	c.938_937	CCDS10094.1	15																																																																																			LCMT2	-	NULL	ENSG00000168806		0.535	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	32	0.00	0	CT	NM_014793		43621750	43621751	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	frame_shift_del	16	72.13	44	DEL	0.000:0.001	-
LCMT2	9836	genome.wustl.edu	37	15	43621756	43621759	+	Frame_Shift_Del	DEL	GCTG	GCTG	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	GCTG	GCTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:43621756_43621759delGCTG	ENST00000305641.5	-	1	1044_1047	c.929_932delCAGC	c.(928-933)gcagctfs	p.AA310fs	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	310					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCCCTAGAAGCTGCCAGAATGAA	0.529																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.929_932delCAGC	15.37:g.43621756_43621759delGCTG	ENSP00000307214:p.Ala310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT6|Q96B55|Q9NR10	Frame_Shift_Del	DEL	pfam_LCM_MeTrfase	p.A310fs	ENST00000305641.5	37	c.932_929	CCDS10094.1	15																																																																																			LCMT2	-	NULL	ENSG00000168806		0.529	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	31	0.00	0	GCTG	NM_014793		43621756	43621759	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	frame_shift_del	12	78.57	44	DEL	0.998:0.999:0.995:1.000	-
MAP3K1	4214	genome.wustl.edu	37	5	56161284	56161284	+	Splice_Site	SNP	G	G	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:56161284G>T	ENST00000399503.3	+	5	1152		c.e5+1			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAATTTTGAGGTAGTTTTTAA	0.308																																						dbGAP											0													52.0	47.0	49.0					5																	56161284		1790	4061	5851	-	-	-	SO:0001630	splice_region_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1152+1G>T	5.37:g.56161284G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e5+1	ENST00000399503.3	37	c.1152+1	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504393	0.85176	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5799	0.95461	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K1	56197041	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.430000	0.90283	2.695000	0.91970	0.650000	0.86243	.	MAP3K1	-	-	ENSG00000095015		0.308	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	51	0.00	0	G	XM_042066	Intron	56161284	56161284	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	splice_site	41	14.58	7	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56170973	56170973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:56170973G>T	ENST00000399503.3	+	10	1801	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	601					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGCAAATGGGGAGAGCACTGG	0.567																																						dbGAP											0													79.0	80.0	80.0					5																	56170973		1925	4124	6049	-	-	-	SO:0001587	stop_gained	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1801G>T	5.37:g.56170973G>T	ENSP00000382423:p.Glu601*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E601*	ENST00000399503.3	37	c.1801	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.094132	0.98059	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7415	0.96232	0.0:0.0:1.0:0.0	.	.	.	.	X	601	.	ENSP00000382423:E601X	E	+	1	0	MAP3K1	56206730	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.441000	0.90313	2.668000	0.90789	0.561000	0.74099	GAG	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.567	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	199	0.00	0	G	XM_042066		56170973	56170973	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	nonsense	190	26.64	69	SNP	1.000	T
MEIS2	4212	genome.wustl.edu	37	15	37186997	37186997	+	Intron	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:37186997C>T	ENST00000561208.1	-	11	1566				MEIS2_ENST00000340545.5_Missense_Mutation_p.M368I|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000397624.3_Missense_Mutation_p.M293I|MEIS2_ENST00000424352.2_Missense_Mutation_p.M388I|MEIS2_ENST00000444725.1_Missense_Mutation_p.M381I|MEIS2_ENST00000397620.2_Missense_Mutation_p.M293I|MEIS2_ENST00000559085.1_Missense_Mutation_p.M375I|MEIS2_ENST00000219869.9_Missense_Mutation_p.M242I|MEIS2_ENST00000557796.2_Missense_Mutation_p.M368I|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000559561.1_Missense_Mutation_p.M381I			O14770	MEIS2_HUMAN	Meis homeobox 2						eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TATTCATGCCCATTCCACTCA	0.428																																						dbGAP											0													218.0	198.0	204.0					15																	37186997		1910	4143	6053	-	-	-	SO:0001627	intron_variant	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1147+354G>A	15.37:g.37186997C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.M388I	ENST00000561208.1	37	c.1164	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558244	0.27827	.	.	ENSG00000134138	ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D	0.88201	-2.02;-2.1;-2.11;-2.1;-2.35	5.54	5.54	0.83059	.	.	.	.	.	D	0.87900	0.6294	M	0.61703	1.905	0.53005	D	0.999962	B;B;B;B;B;B	0.21753	0.016;0.027;0.017;0.022;0.022;0.06	B;B;B;B;B;B	0.21917	0.017;0.037;0.016;0.009;0.009;0.027	D	0.83518	0.0084	9	0.19590	T	0.45	.	19.4845	0.95024	0.0:1.0:0.0:0.0	.	368;381;388;242;293;375	Q96DI2;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;.;.;.;.	I	388;381;368;375;293;242	ENSP00000404185:M388I;ENSP00000391887:M381I;ENSP00000339549:M368I;ENSP00000380745:M293I;ENSP00000219869:M242I	ENSP00000219869:M242I	M	-	3	0	MEIS2	34974289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.609000	0.88269	0.655000	0.94253	ATG	MEIS2	-	NULL	ENSG00000134138		0.428	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	140	0.00	0	C	NM_170677		37186997	37186997	-1	no_errors	ENST00000424352	ensembl	human	known	69_37n	missense	152	38.71	96	SNP	1.000	T
METTL7A	25840	genome.wustl.edu	37	12	51323842	51323842	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr12:51323842C>T	ENST00000548553.1	+	3	1625	c.644C>T	c.(643-645)gCc>gTc	p.A215V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A215V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	215						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CTGGAGCGGGCCAGCTTCTCT	0.547																																						dbGAP											0													79.0	78.0	78.0					12																	51323842		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.644C>T	12.37:g.51323842C>T	ENSP00000448785:p.Ala215Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related	p.A215V	ENST00000548553.1	37	c.644	CCDS8804.1	12	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160208	0.57368	.	.	ENSG00000185432	ENST00000548553;ENST00000332160;ENST00000433599	T;T	0.27402	1.67;1.67	5.61	3.69	0.42338	.	0.179822	0.48286	D	0.000196	T	0.39410	0.1077	M	0.83692	2.655	0.51233	D	0.99991	P	0.35468	0.503	B	0.38264	0.269	T	0.44329	-0.9335	10	0.54805	T	0.06	-4.8775	11.4351	0.50064	0.0:0.8033:0.1256:0.0711	.	215	Q9H8H3	MET7A_HUMAN	V	215;215;146	ENSP00000448785:A215V;ENSP00000331787:A215V	ENSP00000331787:A215V	A	+	2	0	METTL7A	49610109	0.985000	0.35326	0.102000	0.21198	0.844000	0.47949	2.704000	0.47118	1.513000	0.48852	0.655000	0.94253	GCC	METTL7A	-	NULL	ENSG00000185432		0.547	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7A	HGNC	protein_coding	OTTHUMT00000404294.2	114	0.00	0	C	NM_014033		51323842	51323842	+1	no_errors	ENST00000332160	ensembl	human	known	69_37n	missense	96	19.33	23	SNP	0.791	T
MRFAP1L1	114932	genome.wustl.edu	37	4	6711224	6711224	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr4:6711224C>T	ENST00000320848.6	-	1	383	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	45																	CGCCCGTGCTCGCGTATAAGA	0.607																																						dbGAP											0													86.0	78.0	81.0					4																	6711224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.133G>A	4.37:g.6711224C>T	ENSP00000318154:p.Glu45Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R0|Q6NXT8|Q9P0J5	Missense_Mutation	SNP	NULL	p.E45K	ENST00000320848.6	37	c.133	CCDS3392.1	4	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117410	0.20877	.	.	ENSG00000178988	ENST00000320848	.	.	.	2.48	1.62	0.23740	.	.	.	.	.	T	0.15132	0.0365	L	0.27053	0.805	0.09310	N	1	P	0.40515	0.719	B	0.19666	0.026	T	0.11690	-1.0577	8	0.72032	D	0.01	.	7.1599	0.25659	0.0:0.72:0.28:0.0	.	45	Q96HT8	MR1L1_HUMAN	K	45	.	ENSP00000318154:E45K	E	-	1	0	MRFAP1L1	6762125	0.863000	0.29885	0.203000	0.23512	0.030000	0.12068	0.948000	0.29096	0.585000	0.29608	0.655000	0.94253	GAG	MRFAP1L1	-	NULL	ENSG00000178988		0.607	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRFAP1L1	HGNC	protein_coding	OTTHUMT00000246834.1	60	0.00	0	C	NM_152301		6711224	6711224	-1	no_errors	ENST00000320848	ensembl	human	known	69_37n	missense	63	40.57	43	SNP	0.245	T
MSL3	10943	genome.wustl.edu	37	X	11783689	11783689	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrX:11783689C>T	ENST00000312196.4	+	9	1117	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	MSL3_ENST00000337339.2_Missense_Mutation_p.R338C|MSL3_ENST00000380693.3_Missense_Mutation_p.R172C|MSL3_ENST00000398527.2_Missense_Mutation_p.R326C|MSL3_ENST00000361672.2_Missense_Mutation_p.R189C	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	338	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCCCAAAAGGCGCAAAGCTGA	0.597																																						dbGAP											0													107.0	105.0	105.0					X																	11783689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1012C>T	X.37:g.11783689C>T	ENSP00000312244:p.Arg338Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.R338C	ENST00000312196.4	37	c.1012	CCDS14147.1	X	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921014	0.73213	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.27720	3.08;2.91;2.68;2.89;2.69;1.65	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;P;D;D	0.73380	0.98;0.761;0.901;0.98;0.98	T	0.58250	-0.7669	10	0.87932	D	0	.	13.1392	0.59426	0.1603:0.8397:0.0:0.0	.	326;189;279;338;338	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	C	338;338;189;326;172;172	ENSP00000312244:R338C;ENSP00000338078:R338C;ENSP00000354562:R189C;ENSP00000381538:R326C;ENSP00000370069:R172C;ENSP00000370068:R172C	ENSP00000312244:R338C	R	+	1	0	MSL3	11693610	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.178000	0.42519	1.884000	0.54569	0.600000	0.82982	CGC	MSL3	-	pfam_MRG	ENSG00000005302		0.597	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	136	0.00	0	C	NM_006800		11783689	11783689	+1	no_errors	ENST00000312196	ensembl	human	known	69_37n	missense	122	17.57	26	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8409779	8409780	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr17:8409779_8409780insAG	ENST00000269243.4	-	25	3287_3288	c.3149_3150insCT	c.(3148-3150)cgtfs	p.R1050fs	MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1066fs|MYH10_ENST00000360416.3_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1071fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1050					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCAGTTCCTGACGAGTCTTTTC	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3149_3150insCT	17.37:g.8409779_8409780insAG	ENSP00000269243:p.Arg1050fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1072fs	ENST00000269243.4	37	c.3213_3212	CCDS11144.1	17																																																																																			MYH10	-	superfamily_HR1_rho-bd	ENSG00000133026		0.475	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	211	0.00	0	-			8409779	8409780	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	frame_shift_ins	116	55.56	145	INS	0.795:1.000	AG
MYH2	4620	genome.wustl.edu	37	17	10436912	10436912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr17:10436912delG	ENST00000245503.5	-	20	2602	c.2218delC	c.(2218-2220)caafs	p.Q740fs	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Frame_Shift_Del_p.Q740fs|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	740	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAATGAATTGCCCTTCAGGG	0.388																																						dbGAP											0													123.0	114.0	117.0					17																	10436912		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2218delC	17.37:g.10436912delG	ENSP00000245503:p.Gln740fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q740fs	ENST00000245503.5	37	c.2218	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	135	0.00	0	G	NM_017534		10436912	10436912	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	frame_shift_del	129	59.66	213	DEL	1.000	-
MYH9	4627	genome.wustl.edu	37	22	36702609	36702610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr22:36702609_36702610insA	ENST00000216181.5	-	16	2117_2118	c.1887_1888insT	c.(1885-1890)gagaccfs	p.T630fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	630	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCAGTGCGGTCTCCGACATGC	0.634			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1887_1888insT	22.37:g.36702609_36702610insA	ENSP00000216181:p.Thr630fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.T629fs	ENST00000216181.5	37	c.1888_1887	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000100345		0.634	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	24	0.00	0	-	NM_002473		36702609	36702610	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	frame_shift_ins	19	26.92	7	INS	0.996:0.985	A
MYO10	4651	genome.wustl.edu	37	5	16935911	16935912	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:16935911_16935912insG	ENST00000513610.1	-	1	460_461	c.6_7insC	c.(4-9)gataacfs	p.N3fs	MYO10_ENST00000507288.1_Frame_Shift_Ins_p.N3fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	3					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTGAAGAAGTTATCCATTGTTC	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6_7insC	5.37:g.16935911_16935912insG	ENSP00000421280:p.Asn3fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.N2fs	ENST00000513610.1	37	c.7_6	CCDS54834.1	5																																																																																			MYO10	-	NULL	ENSG00000145555		0.678	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	36	0.00	0	-	NM_012334		16935911	16935912	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	frame_shift_ins	9	35.71	5	INS	1.000:0.999	G
MYRIP	25924	genome.wustl.edu	37	3	40275393	40275393	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:40275393T>C	ENST00000302541.6	+	12	2291	c.1949T>C	c.(1948-1950)cTg>cCg	p.L650P	MYRIP_ENST00000444716.1_Missense_Mutation_p.L650P|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.L561P|MYRIP_ENST00000539167.1_Missense_Mutation_p.L463P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	650	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACAGAAGTCCTGAAAGTCATC	0.488																																						dbGAP											0													90.0	87.0	88.0					3																	40275393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1949T>C	3.37:g.40275393T>C	ENSP00000301972:p.Leu650Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.L650P	ENST00000302541.6	37	c.1949	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713096	0.48517	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.79	5.79	0.91817	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.64402	D	0.000003	T	0.60637	0.2284	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.72338	0.951;0.977	T	0.60265	-0.7297	9	.	.	.	.	14.0875	0.64968	0.0:0.0:0.0:1.0	.	561;650	Q32M42;Q8NFW9	.;MYRIP_HUMAN	P	650;650;561;463	ENSP00000398665:L650P;ENSP00000301972:L650P;ENSP00000379519:L561P;ENSP00000438297:L463P	.	L	+	2	0	MYRIP	40250397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.899000	0.75682	2.207000	0.71202	0.533000	0.62120	CTG	MYRIP	-	pfam_Myelin-assoc_OBP	ENSG00000170011		0.488	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	92	0.00	0	T	NM_015460		40275393	40275393	+1	no_errors	ENST00000302541	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	C
NFRKB	4798	genome.wustl.edu	37	11	129752350	129752350	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr11:129752350C>T	ENST00000446488.3	-	9	1181	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NFRKB_ENST00000304521.5_Missense_Mutation_p.E360K|NFRKB_ENST00000524746.1_Missense_Mutation_p.E360K|NFRKB_ENST00000524794.1_Missense_Mutation_p.E385K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	360					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTTACTCTTCCTTGATAGCA	0.547																																						dbGAP											0													123.0	127.0	125.0					11																	129752350		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1078G>A	11.37:g.129752350C>T	ENSP00000400476:p.Glu360Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	NULL	p.E385K	ENST00000446488.3	37	c.1153	CCDS44770.1	11	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708272	0.68615	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.71674	0.993;0.993;0.998;0.996	D;D;D;D	0.78314	0.971;0.971;0.991;0.987	T	0.62062	-0.6933	9	0.30854	T	0.27	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	372;360;360;385	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	K	360;360;385;360;372	.	ENSP00000303800:E360K	E	-	1	0	NFRKB	129257560	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.506000	0.66993	2.756000	0.94617	0.655000	0.94253	GAA	NFRKB	-	NULL	ENSG00000170322		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	193	0.00	0	C	NM_006165		129752350	129752350	-1	no_errors	ENST00000524794	ensembl	human	known	69_37n	missense	138	17.37	29	SNP	1.000	T
NID1	4811	genome.wustl.edu	37	1	236201470	236201470	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:236201470C>T	ENST00000264187.6	-	5	1301	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	NID1_ENST00000366595.3_Missense_Mutation_p.A407T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	407	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AAGCCCGTGGCGTAGTCCCTG	0.522																																						dbGAP											0													115.0	107.0	109.0					1																	236201470		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1219G>A	1.37:g.236201470C>T	ENSP00000264187:p.Ala407Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A407T	ENST00000264187.6	37	c.1219	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851856	0.32699	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.87179	-2.22;-2.22	5.52	-8.61	0.00885	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.824033	0.11653	N	0.542572	T	0.77212	0.4097	L	0.56396	1.775	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.58847	-0.7564	10	0.29301	T	0.29	.	5.427	0.16431	0.0724:0.2414:0.1486:0.5376	.	407;407	P14543-2;P14543	.;NID1_HUMAN	T	407	ENSP00000264187:A407T;ENSP00000355554:A407T	ENSP00000264187:A407T	A	-	1	0	NID1	234268093	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-1.036000	0.03560	-1.314000	0.02300	0.650000	0.86243	GCC	NID1	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000116962		0.522	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	100	0.00	0	C	NM_002508		236201470	236201470	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	105	23.19	32	SNP	0.000	T
PCDHB8	56128	genome.wustl.edu	37	5	140558352	140558352	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:140558352C>T	ENST00000239444.2	+	1	982	c.737C>T	c.(736-738)cCt>cTt	p.P246L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	246					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCCTTTCTATAGG	0.507																																						dbGAP											0													207.0	271.0	250.0					5																	140558352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.737C>T	5.37:g.140558352C>T	ENSP00000239444:p.Pro246Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P246L	ENST00000239444.2	37	c.737	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	c	6.190	0.403161	0.11754	.	.	ENSG00000120322	ENST00000239444	T	0.60920	0.15	4.25	2.39	0.29439	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.43831	0.1265	L	0.41124	1.26	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33369	-0.9871	9	0.42905	T	0.14	.	4.5873	0.12289	0.1553:0.6041:0.1508:0.0898	.	246	Q9UN66	PCDB8_HUMAN	L	246	ENSP00000239444:P246L	ENSP00000239444:P246L	P	+	2	0	PCDHB8	140538536	0.000000	0.05858	0.256000	0.24389	0.988000	0.76386	-0.161000	0.10026	0.232000	0.21100	0.585000	0.79938	CCT	PCDHB8	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.507	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	78	0.00	0	C	NM_019120		140558352	140558352	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	missense	36	47.83	33	SNP	0.036	T
PCDHGA2	56113	genome.wustl.edu	37	5	140718636	140718636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:140718636delA	ENST00000394576.2	+	1	98	c.98delA	c.(97-99)tatfs	p.Y33fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	33	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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATTCGCTATTCTGTGCGG	0.597											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													67.0	68.0	67.0					5																	140718636		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.98delA	5.37:g.140718636delA	ENSP00000378077:p.Tyr33fs	Somatic	1658	WXS	Illumina GAIIx	Phase_IV	Q52LL6|Q9Y5D5	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Y33fs	ENST00000394576.2	37	c.98	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000081853		0.597	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	92	0.00	0	A	NM_018915		140718636	140718636	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	frame_shift_del	63	31.58	30	DEL	1.000	-
PDE12	201626	genome.wustl.edu	37	3	57542741	57542741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:57542741delT	ENST00000311180.8	+	1	738	c.635delT	c.(634-636)gtcfs	p.V212fs	PDE12_ENST00000487257.1_Frame_Shift_Del_p.V212fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	212					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GAGGTCGGTGTCCCCTCGTCA	0.602																																					Colon(125;308 1634 19198 50622 50717)	dbGAP											0													123.0	121.0	122.0					3																	57542741		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.635delT	3.37:g.57542741delT	ENSP00000309142:p.Val212fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Frame_Shift_Del	DEL	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.V212fs	ENST00000311180.8	37	c.635	CCDS33772.1	3																																																																																			PDE12	-	NULL	ENSG00000174840		0.602	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	47	0.00	0	T	NM_177966		57542741	57542741	+1	no_errors	ENST00000311180	ensembl	human	known	69_37n	frame_shift_del	44	20.97	13	DEL	0.544	-
PFKFB4	5210	genome.wustl.edu	37	3	48561136	48561136	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:48561136G>T	ENST00000232375.3	-	11	1332	c.1220C>A	c.(1219-1221)gCa>gAa	p.A407E	PFKFB4_ENST00000541519.1_Missense_Mutation_p.A373E|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.A372E|PFKFB4_ENST00000536104.1_Missense_Mutation_p.A396E|PFKFB4_ENST00000416568.1_Missense_Mutation_p.A400E	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	407	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GCCCACACCTGCTGCCTTGTC	0.597																																						dbGAP											0													90.0	81.0	84.0					3																	48561136		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1220C>A	3.37:g.48561136G>T	ENSP00000232375:p.Ala407Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.A407E	ENST00000232375.3	37	c.1220	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251440	0.59212	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.56	4.56	0.56223	.	0.053248	0.85682	D	0.000000	T	0.64057	0.2564	M	0.75615	2.305	0.80722	D	1	P;P;D;P	0.53619	0.643;0.813;0.961;0.593	B;B;P;B	0.49853	0.138;0.379;0.624;0.108	T	0.69712	-0.5071	9	0.87932	D	0	0.3642	10.7407	0.46152	0.0:0.193:0.807:0.0	.	396;372;400;407	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	E	407;396;400;372;373	.	ENSP00000232375:A407E	A	-	2	0	PFKFB4	48536140	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	7.599000	0.82757	2.360000	0.80028	0.558000	0.71614	GCA	PFKFB4	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000114268		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	HGNC	protein_coding	OTTHUMT00000257503.2	57	0.00	0	G	NM_004567		48561136	48561136	-1	no_errors	ENST00000232375	ensembl	human	known	69_37n	missense	95	15.18	17	SNP	1.000	T
PHF23	79142	genome.wustl.edu	37	17	7139066	7139066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr17:7139066delT	ENST00000320316.3	-	5	1317	c.1091delA	c.(1090-1092)cacfs	p.H364fs	PHF23_ENST00000454255.2_Frame_Shift_Del_p.H360fs|PHF23_ENST00000576955.1_Frame_Shift_Del_p.H234fs|PHF23_ENST00000571362.1_Frame_Shift_Del_p.H297fs|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	364							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ACAGGAGAGGTGGATCCACGT	0.552																																						dbGAP											0													153.0	157.0	156.0					17																	7139066		1958	4146	6104	-	-	-	SO:0001589	frameshift_variant	0			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.1091delA	17.37:g.7139066delT	ENSP00000322579:p.His364fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.H364fs	ENST00000320316.3	37	c.1091	CCDS42250.1	17																																																																																			PHF23	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000040633		0.552	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	HGNC	protein_coding	OTTHUMT00000440047.1	70	0.00	0	T	NM_024297		7139066	7139066	-1	no_errors	ENST00000320316	ensembl	human	known	69_37n	frame_shift_del	46	57.76	67	DEL	1.000	-
PIGM	93183	genome.wustl.edu	37	1	160000642	160000643	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:160000642_160000643insA	ENST00000368090.2	-	1	1140_1141	c.887_888insT	c.(886-888)ctgfs	p.L296fs		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	296					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGCTGTGGCAGGAATGCAGC	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.888dupT	1.37:g.160000643_160000643dupA	ENSP00000357069:p.Leu296fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Mannosyltransferase_DXD	p.P297fs	ENST00000368090.2	37	c.888_887	CCDS1192.1	1																																																																																			PIGM	-	pfam_Mannosyltransferase_DXD	ENSG00000143315		0.431	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGM	HGNC	protein_coding	OTTHUMT00000060643.2	353	0.00	0	-	NM_145167		160000642	160000643	-1	no_errors	ENST00000368090	ensembl	human	known	69_37n	frame_shift_ins	202	19.20	48	INS	0.948:1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	-	-	-	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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	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.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	64	0.00	0	G			178938934	178938934	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	83	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	64	32.63	31	SNP	1.000	G
PKP1	5317	genome.wustl.edu	37	1	201287868	201287868	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr1:201287868delA	ENST00000352845.3	+	6	1177	c.1177delA	c.(1177-1179)atgfs	p.M393fs	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Frame_Shift_Del_p.M393fs|PKP1_ENST00000367324.3_Frame_Shift_Del_p.M393fs			Q13835	PKP1_HUMAN	plakophilin 1	393					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAATAGCAACATGTCCCGGGA	0.572																																						dbGAP											0													72.0	58.0	63.0					1																	201287868		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1177delA	1.37:g.201287868delA	ENSP00000295597:p.Met393fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00645|Q14CA0|Q15152	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.M393fs	ENST00000352845.3	37	c.1177	CCDS30966.1	1																																																																																			PKP1	-	superfamily_ARM-type_fold	ENSG00000081277		0.572	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	97	0.00	0	A	NM_000299		201287868	201287868	+1	no_errors	ENST00000263946	ensembl	human	known	69_37n	frame_shift_del	84	57.33	129	DEL	0.994	-
PLCB2	5330	genome.wustl.edu	37	15	40580976	40580977	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr15:40580976_40580977insG	ENST00000260402.3	-	32	3746_3747	c.3497_3498insC	c.(3496-3498)ccafs	p.P1166fs	PLCB2_ENST00000456256.2_Frame_Shift_Ins_p.P1151fs|PLCB2_ENST00000557821.1_Frame_Shift_Ins_p.P1162fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1166					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CACACAGCTCTGGGGGGCACTC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3498dupC	15.37:g.40580982_40580982dupG	ENSP00000260402:p.Pro1166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J2|B9EGH5	Frame_Shift_Ins	INS	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1167fs	ENST00000260402.3	37	c.3498_3497	CCDS42020.1	15																																																																																			PLCB2	-	NULL	ENSG00000137841		0.629	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	74	0.00	0	-			40580976	40580977	-1	no_errors	ENST00000260402	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.029:0.000	G
PLEKHG4	25894	genome.wustl.edu	37	16	67314191	67314191	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr16:67314191delG	ENST00000360461.5	+	1	2779	c.244delG	c.(244-246)gccfs	p.A82fs	PLEKHG4_ENST00000427155.2_Frame_Shift_Del_p.A82fs|PLEKHG4_ENST00000450733.1_Frame_Shift_Del_p.A82fs|PLEKHG4_ENST00000379344.3_Frame_Shift_Del_p.A82fs	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	82							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTCGGGGGATGCCCAGAGGGG	0.617																																						dbGAP											0													47.0	48.0	48.0					16																	67314191		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.244delG	16.37:g.67314191delG	ENSP00000353646:p.Ala82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A82fs	ENST00000360461.5	37	c.244	CCDS32466.1	16																																																																																			PLEKHG4	-	NULL	ENSG00000196155		0.617	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	41	0.00	0	G	NM_015432		67314191	67314191	+1	no_errors	ENST00000360461	ensembl	human	known	69_37n	frame_shift_del	10	52.17	12	DEL	0.000	-
PLXNA3	55558	genome.wustl.edu	37	X	153692649	153692650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrX:153692649_153692650insA	ENST00000369682.3	+	8	1996_1997	c.1821_1822insA	c.(1822-1824)gggfs	p.G608fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	608					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTACCAGGGGGCATGGTCA	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	Exception_encountered	X.37:g.153692649_153692650insA	ENSP00000358696:p.Gly608fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,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.G607fs	ENST00000369682.3	37	c.1821_1822	CCDS14752.1	X																																																																																			PLXNA3	-	NULL	ENSG00000130827		0.708	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	18	0.00	0	-	NM_017514		153692649	153692650	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	frame_shift_ins	5	58.33	7	INS	0.342:0.461	A
PLXNB3	5365	genome.wustl.edu	37	X	153037690	153037691	+	Frame_Shift_Ins	INS	-	-	AAGC			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrX:153037690_153037691insAAGC	ENST00000361971.5	+	16	2837_2838	c.2723_2724insAAGC	c.(2722-2727)gtggccfs	p.A909fs	PLXNB3_ENST00000538966.1_Frame_Shift_Ins_p.A932fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.A562fs|PLXNB3_ENST00000538282.1_Frame_Shift_Ins_p.A519fs	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	909	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTCCGGGTGGCCATTAAGA	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	Exception_encountered	X.37:g.153037690_153037691insAAGC	ENSP00000355378:p.Ala909fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,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.A932fs	ENST00000361971.5	37	c.2792_2793	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000198753		0.649	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	14	0.00	0	-			153037690	153037691	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.987:0.958	AAGC
PLXND1	23129	genome.wustl.edu	37	3	129281687	129281687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:129281687delC	ENST00000324093.4	-	27	4946	c.4768delG	c.(4768-4770)gccfs	p.A1590fs	PLXND1_ENST00000393239.1_Frame_Shift_Del_p.A1590fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1590					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						TTGCAGAAGGCCTCCAGGATC	0.627																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0													98.0	80.0	86.0					3																	129281687		2203	4300	6503	-	-	-	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.4768delG	3.37:g.129281687delC	ENSP00000317128:p.Ala1590fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Del	DEL	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.A1590fs	ENST00000324093.4	37	c.4768	CCDS33854.1	3																																																																																			PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	88	0.00	0	C	NM_015103		129281687	129281687	-1	no_errors	ENST00000324093	ensembl	human	known	69_37n	frame_shift_del	29	46.43	26	DEL	1.000	-
PLXND1	23129	genome.wustl.edu	37	3	129282067	129282067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr3:129282067delG	ENST00000324093.4	-	26	4716	c.4538delC	c.(4537-4539)ccafs	p.P1513fs	PLXND1_ENST00000393239.1_Frame_Shift_Del_p.P1513fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1513					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						CAGGAAGAATGGCTCCCCCAC	0.617																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0													57.0	51.0	53.0					3																	129282067		2203	4299	6502	-	-	-	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.4538delC	3.37:g.129282067delG	ENSP00000317128:p.Pro1513fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Del	DEL	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.P1513fs	ENST00000324093.4	37	c.4538	CCDS33854.1	3																																																																																			PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.617	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	54	0.00	0	G	NM_015103		129282067	129282067	-1	no_errors	ENST00000324093	ensembl	human	known	69_37n	frame_shift_del	37	47.89	34	DEL	1.000	-
PMS2CL	441194	genome.wustl.edu	37	7	6777566	6777568	+	RNA	DEL	AGG	AGG	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr7:6777566_6777568delAGG	ENST00000486256.1	+	0	1693_1694					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		AAAAGAGATAAGGTAAAGtttta	0.33																																						dbGAP											0																																										-	-	-			0			BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6777566_6777568delAGG		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK88|Q764P1	Splice_Site	DEL	-	NULL	ENST00000486256.1	37	c.NULL		7																																																																																			PMS2CL	-	-	ENSG00000187953		0.330	PMS2CL-002	KNOWN	basic	processed_transcript	PMS2CL	HGNC	pseudogene	OTTHUMT00000324193.1	45	0.00	0	AGG	NR_002217		6777566	6777568	+1	no_errors	ENST00000431453	ensembl	human	known	69_37n	splice_site_del	95	61.43	172	DEL	1.000:1.000:1.000	-
POLR1C	9533	genome.wustl.edu	37	6	43484915	43484915	+	Splice_Site	SNP	A	A	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:43484915A>G	ENST00000372389.3	+	1	156	c.68A>G	c.(67-69)aAt>aGt	p.N23S	POLR1C_ENST00000304004.3_Splice_Site_p.N23S|YIPF3_ENST00000372422.2_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|YIPF3_ENST00000506469.1_5'Flank|POLR1C_ENST00000372344.2_Splice_Site_p.N23S	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	23					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGGGTTCGCAATGTAAGCCTT	0.587																																						dbGAP											0													151.0	153.0	152.0					6																	43484915		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.69+1A>G	6.37:g.43484915A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.N23S	ENST00000372389.3	37	c.68	CCDS4901.1	6	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585433	0.66105	.	.	ENSG00000171453	ENST00000372389;ENST00000372344;ENST00000304004	D;D;T	0.84146	-1.81;-1.81;-0.82	5.17	5.17	0.71159	.	0.164239	0.50627	D	0.000113	D	0.89188	0.6644	M	0.89601	3.045	0.80722	D	1	P;P	0.47762	0.9;0.77	P;B	0.50708	0.648;0.357	D	0.91477	0.5201	10	0.72032	D	0.01	-21.5249	15.0403	0.71785	1.0:0.0:0.0:0.0	.	23;23	O15160-2;O15160	.;RPAC1_HUMAN	S	23	ENSP00000361465:N23S;ENSP00000361419:N23S;ENSP00000307212:N23S	ENSP00000307212:N23S	N	+	2	0	POLR1C	43592893	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.775000	0.85489	1.945000	0.56424	0.456000	0.33151	AAT	POLR1C	-	NULL	ENSG00000171453		0.587	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	195	0.00	0	A	NM_004875	Missense_Mutation	43484915	43484915	+1	no_errors	ENST00000372389	ensembl	human	known	69_37n	missense	134	20.71	35	SNP	1.000	G
RGPD4	285190	genome.wustl.edu	37	2	108479275	108479275	+	Silent	SNP	A	A	G	rs201818344	byFrequency	TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:108479275A>G	ENST00000408999.3	+	16	2420	c.2343A>G	c.(2341-2343)ccA>ccG	p.P781P	RGPD4_ENST00000354986.4_Silent_p.P781P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	781					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTCTACACCATCTCCTACCA	0.338																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2343A>G	2.37:g.108479275A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A029	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.P781	ENST00000408999.3	37	c.2343	CCDS46381.1	2																																																																																			RGPD4	-	NULL	ENSG00000196862		0.338	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	27	0.00	0	A	XM_496581		108479275	108479275	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.994	G
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037843	10037843	+	RNA	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrY:10037843C>T	ENST00000515896.1	+	0	80									RNA, 5.8S ribosomal pseudogene 6																		AATTGCAGGACACATTGATCA	0.512																																						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.10037843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		13	0.00	0	C			10037843	10037843	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037883	10037883	+	RNA	SNP	G	G	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chrY:10037883G>A	ENST00000515896.1	+	0	120									RNA, 5.8S ribosomal pseudogene 6																		TGCGGCCCGGGTTCCTCCCAG	0.577																																						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.10037883G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.577	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		10	0.00	0	G			10037883	10037883	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	1.000	A
SAPCD2	89958	genome.wustl.edu	37	9	139960101	139960101	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr9:139960101delA	ENST00000409687.3	-	3	831	c.704delT	c.(703-705)ctgfs	p.L235fs	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	235						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											CTCCTGCTCCAGCTCCTTCAT	0.607																																						dbGAP											0													118.0	113.0	115.0					9																	139960101		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.704delT	9.37:g.139960101delA	ENSP00000386348:p.Leu235fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.L235fs	ENST00000409687.3	37	c.704	CCDS7027.2	9																																																																																			SAPCD2	-	NULL	ENSG00000186193		0.607	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAPCD2	HGNC	protein_coding	OTTHUMT00000055215.2	25	0.00	0	A	NM_178448		139960101	139960101	-1	no_errors	ENST00000409687	ensembl	human	known	69_37n	frame_shift_del	13	89.74	271	DEL	1.000	-
SF3B6	51639	genome.wustl.edu	37	2	24291262	24291262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:24291262delC	ENST00000233468.4	-	3	430	c.217delG	c.(217-219)gcafs	p.A73fs		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCACATGCATTCTTGGCA	0.388																																						dbGAP											0													160.0	141.0	147.0					2																	24291262		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000233468.4:c.217delG	2.37:g.24291262delC	ENSP00000233468:p.Ala73fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A73fs	ENST00000233468.4	37	c.217	CCDS1707.1	2																																																																																			AC008073.5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000115128		0.388	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B14	Clone_based_vega_gene	protein_coding	OTTHUMT00000246826.1	176	0.00	0	C			24291262	24291262	-1	no_errors	ENST00000233468	ensembl	human	known	69_37n	frame_shift_del	68	35.51	38	DEL	1.000	-
SF3B6	51639	genome.wustl.edu	37	2	24291264	24291264	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:24291264delT	ENST00000233468.4	-	3	428	c.215delA	c.(214-216)aatfs	p.N72fs		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCACATGCATTCTTGGCATC	0.388																																						dbGAP											0													161.0	142.0	149.0					2																	24291264		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000233468.4:c.215delA	2.37:g.24291264delT	ENSP00000233468:p.Asn72fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N72fs	ENST00000233468.4	37	c.215	CCDS1707.1	2																																																																																			AC008073.5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000115128		0.388	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B14	Clone_based_vega_gene	protein_coding	OTTHUMT00000246826.1	174	0.00	0	T			24291264	24291264	-1	no_errors	ENST00000233468	ensembl	human	known	69_37n	frame_shift_del	68	35.85	38	DEL	1.000	-
SNRNP200	23020	genome.wustl.edu	37	2	96949670	96949671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr2:96949670_96949671insA	ENST00000323853.5	-	32	4541_4542	c.4464_4465insT	c.(4462-4467)gtggcafs	p.A1489fs	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1489	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GAGCTGAGTGCCACAATGCGAA	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4464_4465insT	2.37:g.96949670_96949671insA	ENSP00000317123:p.Ala1489fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Frame_Shift_Ins	INS	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1488fs	ENST00000323853.5	37	c.4465_4464	CCDS2020.1	2																																																																																			SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.589	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	58	0.00	0	-	NM_014014		96949670	96949671	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	frame_shift_ins	57	39.36	37	INS	1.000:1.000	A
SNTG1	54212	genome.wustl.edu	37	8	51449300	51449300	+	Silent	SNP	C	C	T	rs35419988		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr8:51449300C>T	ENST00000522124.1	+	11	1273	c.612C>T	c.(610-612)tgC>tgT	p.C204C	SNTG1_ENST00000517473.1_Silent_p.C204C|SNTG1_ENST00000276467.5_Silent_p.C204C|SNTG1_ENST00000518864.1_Silent_p.C204C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	204					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGCGATGGTGCGACCTCAGAC	0.473																																						dbGAP											0													216.0	189.0	198.0					8																	51449300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.612C>T	8.37:g.51449300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3Q0|Q9NY98	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.C204	ENST00000522124.1	37	c.612	CCDS6147.1	8																																																																																			SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	137	0.00	0	C			51449300	51449300	+1	no_errors	ENST00000518864	ensembl	human	known	69_37n	silent	122	15.28	22	SNP	1.000	T
SPAG6	9576	genome.wustl.edu	37	10	22634774	22634775	+	Intron	INS	-	-	C			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr10:22634774_22634775insC	ENST00000376624.3	+	2	263				SPAG6_ENST00000376603.2_Frame_Shift_Ins_p.A50fs|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Intron|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6						cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AACCCCCGTCGCCCCCCGCGCA	0.688																																						dbGAP											0									,	5,4243		0,5,2119					,	-3.5	0.0			23	7,8225		0,7,4109	no	intron,intron	SPAG6	NM_172242.1,NM_012443.2	,	0,12,6228	A1A1,A1R,RR		0.085,0.1177,0.0962	,	,		12,12468				-	-	-	SO:0001627	intron_variant	0			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.121+27->C	10.37:g.22634780_22634780dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Frame_Shift_Ins	INS	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.R52fs	ENST00000376624.3	37	c.148_149	CCDS7139.1	10																																																																																			SPAG6	-	NULL	ENSG00000077327		0.688	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	27	0.00	0	-			22634774	22634775	+1	no_errors	ENST00000376603	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.000:0.000	C
SPTB	6710	genome.wustl.edu	37	14	65262236	65262237	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr14:65262236_65262237insG	ENST00000389721.5	-	11	1494_1495	c.1462_1463insC	c.(1462-1464)ctgfs	p.L488fs	SPTB_ENST00000556626.1_Frame_Shift_Ins_p.L488fs|SPTB_ENST00000389720.3_Frame_Shift_Ins_p.L488fs|SPTB_ENST00000389722.3_Frame_Shift_Ins_p.L488fs|SPTB_ENST00000542895.1_Frame_Shift_Ins_p.L488fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	488					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTTTCTCCAGCTCCTGAGCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1463dupC	14.37:g.65262237_65262237dupG	ENSP00000374371:p.Leu488fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Frame_Shift_Ins	INS	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L488fs	ENST00000389721.5	37	c.1463_1462	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.624	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	69	0.00	0	-			65262236	65262237	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	frame_shift_ins	55	40.22	37	INS	1.000:1.000	G
TAGAP	117289	genome.wustl.edu	37	6	159457074	159457075	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:159457074_159457075insT	ENST00000367066.3	-	10	2311_2312	c.1980_1981insA	c.(1978-1983)ctctctfs	p.S661fs	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Ins_p.S483fs|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	661					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGCAGGGGAGAGAGTCCGTGGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1980_1981insA	6.37:g.159457074_159457075insT	ENSP00000356033:p.Ser661fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S660fs	ENST00000367066.3	37	c.1981_1980	CCDS5261.1	6																																																																																			TAGAP	-	NULL	ENSG00000164691		0.629	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	89	0.00	0	-	NM_054114		159457074	159457075	-1	no_errors	ENST00000367066	ensembl	human	known	69_37n	frame_shift_ins	40	33.33	20	INS	0.000:0.000	T
TBC1D9B	23061	genome.wustl.edu	37	5	179302103	179302104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr5:179302103_179302104insC	ENST00000356834.3	-	12	2021_2022	c.1984_1985insG	c.(1984-1986)gtgfs	p.V662fs	TBC1D9B_ENST00000355235.3_Frame_Shift_Ins_p.V662fs	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	662	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGAGATCACCCCCAGGTCC	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1985dupG	5.37:g.179302108_179302108dupC	ENSP00000349291:p.Val662fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.V662fs	ENST00000356834.3	37	c.1985_1984	CCDS43408.1	5																																																																																			TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000197226		0.604	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	45	0.00	0	-	NM_015043		179302103	179302104	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:1.000	C
TCP11	6954	genome.wustl.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G	rs371490655		TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr6:35108559_35108560insG	ENST00000512012.1	-	1	244_245	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000311875.5_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000373974.4_Intron			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639																																						dbGAP											0									,	6,3644		0,6,1819					,	-4.2	0.0			24	2,7854		0,2,3926	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	0,8,5745	A1A1,A1R,RR		0.0255,0.1644,0.0695	,	,		8,11498				-	-	-	SO:0001589	frameshift_variant	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.89dupC	6.37:g.35108566_35108566dupG	ENSP00000425995:p.Gln30fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Ins	INS	pfam_Tcp11	p.Q43fs	ENST00000512012.1	37	c.128_127		6																																																																																			TCP11	-	NULL	ENSG00000124678		0.639	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	34	0.00	0	-	NM_001093728		35108559	35108560	-1	no_errors	ENST00000311875	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	0.000:0.004	G
TUBA3C	7278	genome.wustl.edu	37	13	19752393	19752393	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr13:19752393C>T	ENST00000400113.3	-	3	472	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	123					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACCAGTTTGCGGATCCGGTC	0.517																																						dbGAP											0													196.0	175.0	182.0					13																	19752393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.368G>A	13.37:g.19752393C>T	ENSP00000382982:p.Arg123His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R123H	ENST00000400113.3	37	c.368	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	c	12.14	1.847372	0.32606	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.72615	-0.67	1.53	1.53	0.23141	.	0.000000	0.48286	U	0.000189	T	0.74465	0.3720	.	.	.	0.42940	D	0.994348	.	.	.	.	.	.	T	0.76602	-0.2899	7	0.87932	D	0	.	9.0464	0.36349	0.0:1.0:0.0:0.0	.	.	.	.	H	123	ENSP00000382982:R123H	ENSP00000354037:R123H	R	-	2	0	TUBA3C	18650393	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.254000	0.72460	1.161000	0.42604	0.423000	0.28283	CGC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Beta_tubulin	ENSG00000198033		0.517	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	134	0.00	0	C	NM_006001		19752393	19752393	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	T
ZNF48	197407	genome.wustl.edu	37	16	30409493	30409494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr16:30409493_30409494insC	ENST00000320159.2	+	2	1298_1299	c.922_923insC	c.(922-924)tgtfs	p.C308fs	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTGTGATGTGTGTGGAAAGGAG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	Exception_encountered	16.37:g.30409493_30409494insC	ENSP00000324056:p.Cys308fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15920|Q4G0R3|Q69YP3|Q96IL9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C308fs	ENST00000320159.2	37	c.922_923	CCDS10679.1	16																																																																																			ZNF48	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180035		0.589	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	57	0.00	0	-	NM_152652		30409493	30409494	+1	no_errors	ENST00000320159	ensembl	human	known	69_37n	frame_shift_ins	56	42.86	42	INS	1.000:1.000	C
ZNF646	9726	genome.wustl.edu	37	16	31088769	31088769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr16:31088769delG	ENST00000394979.2	+	1	1547	c.1124delG	c.(1123-1125)cgcfs	p.R375fs	ZNF646_ENST00000300850.5_Frame_Shift_Del_p.R375fs			O15015	ZN646_HUMAN	zinc finger protein 646	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGGCCTTTCCGCTGTGGGGAC	0.602																																						dbGAP											0													33.0	30.0	31.0					16																	31088769		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1124delG	16.37:g.31088769delG	ENSP00000378429:p.Arg375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVD8	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R375fs	ENST00000394979.2	37	c.1124		16																																																																																			ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.602	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	20	0.00	0	G	NM_014699		31088769	31088769	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	frame_shift_del	8	38.46	5	DEL	1.000	-
ZNF878	729747	genome.wustl.edu	37	19	12154864	12154864	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0CP-01A-11W-A050-09	TCGA-A2-A0CP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a776e274-fe9f-49a9-83ab-95ca6819c96b	a1bb0524-fef9-405d-8e55-4c8ab74efb16	g.chr19:12154864T>G	ENST00000547628.1	-	4	1489	c.1352A>C	c.(1351-1353)tAt>tCt	p.Y451S	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.Y498S	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	451					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTTACACTCATAGGGTTTCTC	0.388																																						dbGAP											0													54.0	60.0	58.0					19																	12154864		2198	4297	6495	-	-	-	SO:0001583	missense	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1352A>C	19.37:g.12154864T>G	ENSP00000447931:p.Tyr451Ser	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.Y451S	ENST00000547628.1	37	c.1352	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508397	0.44660	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.25579	1.79	1.3	0.0462	0.14233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	M	0.88105	2.93	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.36578	-0.9742	9	0.87932	D	0	.	2.1338	0.03756	0.4198:0.1844:0.0:0.3957	.	451	C9JN71	ZN878_HUMAN	S	451;498	ENSP00000447931:Y451S	ENSP00000447931:Y451S	Y	-	2	0	AC022415.4;ZNF878	12015864	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	-0.501000	0.06398	-0.291000	0.09012	0.260000	0.18958	TAT	ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257446		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	108	0.00	0	T	NM_001080404		12154864	12154864	-1	no_errors	ENST00000547628	ensembl	human	novel	69_37n	missense	109	15.50	20	SNP	0.002	G
