#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AARS2	57505	genome.wustl.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs			Frame_Shift_Ins	INS	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.T871fs	ENST00000244571.4	37	c.2612_2611	CCDS34464.1	6																																																																																			AARS2	-	tigrfam_Ala-tRNA-synth_IIc	ENSG00000124608		0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	38	0.00	0	-	NM_020745		44269188	44269189	-1	no_errors	ENST00000244571	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.989:0.336	T
AARS2	57505	genome.wustl.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs			Frame_Shift_Ins	INS	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.T871fs	ENST00000244571.4	37	c.2612_2611	CCDS34464.1	6																																																																																			AARS2	-	tigrfam_Ala-tRNA-synth_IIc	ENSG00000124608		0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	62	0.00	0	-	NM_020745		44269188	44269189	-1	no_errors	ENST00000244571	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.989:0.336	T
ADAMTS9	56999	genome.wustl.edu	37	3	64554073	64554073	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr3:64554073G>A	ENST00000498707.1	-	29	4837	c.4495C>T	c.(4495-4497)Ccc>Tcc	p.P1499S	ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1471S|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1499	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCCATTTGGGGCATCTTCCT	0.507																																						dbGAP											0													114.0	105.0	108.0					3																	64554073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4495C>T	3.37:g.64554073G>A	ENSP00000418735:p.Pro1499Ser		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P1499S	ENST00000498707.1	37	c.4495	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593137	0.86953	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60797	0.16;0.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76575	0.988;0.974;0.98	T	0.81957	-0.0695	10	0.72032	D	0.01	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	1471;1499;1499	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	S	1471;1499	ENSP00000295903:P1471S;ENSP00000418735:P1499S	ENSP00000295903:P1471S	P	-	1	0	ADAMTS9	64529113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.761000	0.85260	2.830000	0.97506	0.585000	0.79938	CCC	ADAMTS9	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.507	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	351	0.00	0	G			64554073	64554073	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	1.000	A
ADAMTS9	56999	genome.wustl.edu	37	3	64554073	64554073	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr3:64554073G>A	ENST00000498707.1	-	29	4837	c.4495C>T	c.(4495-4497)Ccc>Tcc	p.P1499S	ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1471S|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1499	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCCATTTGGGGCATCTTCCT	0.507																																						dbGAP											0													114.0	105.0	108.0					3																	64554073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4495C>T	3.37:g.64554073G>A	ENSP00000418735:p.Pro1499Ser		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P1499S	ENST00000498707.1	37	c.4495	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593137	0.86953	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60797	0.16;0.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76575	0.988;0.974;0.98	T	0.81957	-0.0695	10	0.72032	D	0.01	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	1471;1499;1499	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	S	1471;1499	ENSP00000295903:P1471S;ENSP00000418735:P1499S	ENSP00000295903:P1471S	P	-	1	0	ADAMTS9	64529113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.761000	0.85260	2.830000	0.97506	0.585000	0.79938	CCC	ADAMTS9	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.507	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	127	0.00	0	G			64554073	64554073	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	1.000	A
ALDH1L1	10840	genome.wustl.edu	37	3	125855665	125855666	+	Frame_Shift_Ins	INS	-	-	C	rs9282691	byFrequency	TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr3:125855665_125855666insC	ENST00000393434.2	-	11	1634_1635	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs	ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.E429fs|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.E328fs|ALDH1L1_ENST00000393431.2_Frame_Shift_Ins_p.E429fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.E439fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	429	Aldehyde dehydrogenase.		E -> A (in dbSNP:rs9282691).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATCCACGAACTCCCCCCCAATG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1286dupG	3.37:g.125855672_125855672dupC	ENSP00000377083:p.Glu429fs		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E429fs	ENST00000393434.2	37	c.1286_1285	CCDS3034.1	3																																																																																			ALDH1L1	-	superfamily_Ald_DH/histidinol_DH,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH	ENSG00000144908		0.589	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	10	0.00	0	-	NM_012190		125855665	125855666	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	frame_shift_ins	0	100.00	2	INS	0.000:0.000	C
ALDOA	226	genome.wustl.edu	37	16	30080978	30080979	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr16:30080978_30080979insC	ENST00000566897.1	+	10	1935_1936	c.783_784insC	c.(784-786)cccfs	p.P262fs	ALDOA_ENST00000569798.1_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000395248.1_Frame_Shift_Ins_p.P316fs|ALDOA_ENST00000338110.5_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000569545.1_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000563060.2_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000564546.1_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000412304.2_Frame_Shift_Ins_p.P262fs|ALDOA_ENST00000564595.2_Frame_Shift_Ins_p.P316fs|ALDOA_ENST00000395240.3_Frame_Shift_Ins_p.P266fs			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	262					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCGCACAGTGCCCCCCGCTGT	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.789dupC	16.37:g.30080984_30080984dupC	ENSP00000455724:p.Pro262fs		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Frame_Shift_Ins	INS	pfam_Aldolase_I	p.A263fs	ENST00000566897.1	37	c.783_784	CCDS10668.1	16																																																																																			ALDOA	-	pfam_Aldolase_I	ENSG00000149925		0.564	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	26	0.00	0	-	NM_000034		30080978	30080979	+1	no_errors	ENST00000338110	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	1.000:1.000	C
CACNA1B	774	genome.wustl.edu	37	9	140866030	140866030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr9:140866030delT	ENST00000371372.1	+	11	1674	c.1529delT	c.(1528-1530)cttfs	p.L510fs	CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.L511fs|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.L511fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.L510fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.L510fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	510					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCGGCGGCTTACCACGACC	0.612																																						dbGAP											0													76.0	86.0	83.0					9																	140866030		2152	4246	6398	-	-	-	SO:0001589	frameshift_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1529delT	9.37:g.140866030delT	ENSP00000360423:p.Leu510fs		B1AQK5	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T512fs	ENST00000371372.1	37	c.1532	CCDS59522.1	9																																																																																			CACNA1B	-	NULL	ENSG00000148408		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	12	0.00	0	T	NM_000718		140866030	140866030	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	frame_shift_del	2	50.00	2	DEL	1.000	-
CDC42EP1	11135	genome.wustl.edu	37	22	37962638	37962639	+	Frame_Shift_Ins	INS	-	-	C	rs150186371		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr22:37962638_37962639insC	ENST00000249014.4	+	2	702_703	c.282_283insC	c.(283-285)cccfs	p.P95fs		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	95					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGTGGGGGCGCCCCCCCGGAG	0.693																																						dbGAP											0										16,4230		0,16,2107						-9.9	0.0			29	14,8214		0,14,4100	no	frameshift	CDC42EP1	NM_152243.2		0,30,6207	A1A1,A1R,RR		0.1702,0.3768,0.2405				30,12444				-	-	-	SO:0001589	frameshift_variant	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.289dupC	22.37:g.37962645_37962645dupC	ENSP00000249014:p.Pro95fs		A8K825|Q96GN1	Frame_Shift_Ins	INS	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.R96fs	ENST00000249014.4	37	c.282_283	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL	ENSG00000128283		0.693	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	24	0.00	0	-	NM_152243		37962638	37962639	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.000:0.001	C
CLASP1	23332	genome.wustl.edu	37	2	122125357	122125358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr2:122125357_122125358insC	ENST00000263710.4	-	35	4081_4082	c.3692_3693insG	c.(3691-3693)ggtfs	p.G1231fs	CLASP1_ENST00000455322.2_Frame_Shift_Ins_p.G1187fs|CLASP1_ENST00000541377.1_Frame_Shift_Ins_p.G1170fs|CLASP1_ENST00000397587.3_Frame_Shift_Ins_p.G1171fs|CLASP1_ENST00000545861.1_Frame_Shift_Ins_p.G938fs|CLASP1_ENST00000409078.3_Frame_Shift_Ins_p.G1164fs|CLASP1_ENST00000541859.1_Frame_Shift_Ins_p.G948fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1231					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTACTTCACTACCCCCCCGGCC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3693dupG	2.37:g.122125364_122125364dupC	ENSP00000263710:p.Gly1231fs		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Frame_Shift_Ins	INS	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1232fs	ENST00000263710.4	37	c.3693_3692		2																																																																																			CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.634	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		25	0.00	0	-	NM_015282		122125357	122125358	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.024:0.316	C
COL13A1	1305	genome.wustl.edu	37	10	71690202	71690203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr10:71690202_71690203insC	ENST00000398978.3	+	29	2036_2037	c.1544_1545insC	c.(1543-1548)ggccccfs	p.GP515fs	COL13A1_ENST00000398964.3_Frame_Shift_Ins_p.GP486fs|COL13A1_ENST00000398974.3_Frame_Shift_Ins_p.GP503fs|COL13A1_ENST00000357811.3_Frame_Shift_Ins_p.GP493fs|COL13A1_ENST00000398973.3_Frame_Shift_Ins_p.GP515fs|COL13A1_ENST00000520267.1_Frame_Shift_Ins_p.GP458fs|COL13A1_ENST00000517713.1_Frame_Shift_Ins_p.GP493fs|COL13A1_ENST00000398968.3_Frame_Shift_Ins_p.GP496fs|COL13A1_ENST00000398971.3_Frame_Shift_Ins_p.GP515fs|COL13A1_ENST00000398972.3_Frame_Shift_Ins_p.GP515fs|COL13A1_ENST00000520133.1_Frame_Shift_Ins_p.GP464fs|COL13A1_ENST00000398969.3_Frame_Shift_Ins_p.GP458fs|COL13A1_ENST00000356340.3_Frame_Shift_Ins_p.GP515fs|COL13A1_ENST00000522165.1_Frame_Shift_Ins_p.GP496fs|COL13A1_ENST00000398966.3_Frame_Shift_Ins_p.GP493fs|COL13A1_ENST00000354547.3_Frame_Shift_Ins_p.GP493fs	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGTCCCCAAGGCCCCCCAGGAA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1550dupC	10.37:g.71690208_71690208dupC	ENSP00000381949:p.Gly515fs			Frame_Shift_Ins	INS	pfam_Collagen	p.G518fs	ENST00000398978.3	37	c.1544_1545	CCDS44419.1	10																																																																																			COL13A1	-	pfam_Collagen	ENSG00000197467		0.550	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	12	0.00	0	-	NM_005203		71690202	71690203	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	1.000:0.979	C
CSMD1	64478	genome.wustl.edu	37	8	2830770	2830770	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr8:2830770C>T	ENST00000520002.1	-	58	9350	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2931Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2874Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2874Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2873Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2932Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2932	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCACCAAGCCGAGACCCATG	0.498																																						dbGAP											0													155.0	157.0	156.0					8																	2830770		1895	4133	6028	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8795G>A	8.37:g.2830770C>T	ENSP00000430733:p.Arg2932Gln		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2932Q	ENST00000520002.1	37	c.8795		8	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382194	0.61845	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.21	4.34	0.51931	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.52338	0.1728	M	0.87758	2.905	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.958;0.964;0.983	T	0.56619	-0.7949	10	0.19147	T	0.46	.	13.8545	0.63517	0.0:0.9262:0.0:0.0738	.	2932;2932;2873	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Q	2874;2932;2793;2931;2873	ENSP00000383047:R2874Q;ENSP00000430733:R2932Q;ENSP00000441462:R2931Q;ENSP00000446243:R2873Q	ENSP00000320445:R2793Q	R	-	2	0	CSMD1	2818177	1.000000	0.71417	0.910000	0.35882	0.066000	0.16364	7.453000	0.80700	1.191000	0.43056	0.655000	0.94253	CGG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	165	0.00	0	C	NM_033225		2830770	2830770	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	92	32.35	44	SNP	0.997	T
CSMD1	64478	genome.wustl.edu	37	8	2830770	2830770	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr8:2830770C>T	ENST00000520002.1	-	58	9350	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2931Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2874Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2874Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2873Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2932Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2932	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCACCAAGCCGAGACCCATG	0.498																																						dbGAP											0													155.0	157.0	156.0					8																	2830770		1895	4133	6028	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8795G>A	8.37:g.2830770C>T	ENSP00000430733:p.Arg2932Gln		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2932Q	ENST00000520002.1	37	c.8795		8	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382194	0.61845	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.21	4.34	0.51931	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.52338	0.1728	M	0.87758	2.905	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.958;0.964;0.983	T	0.56619	-0.7949	10	0.19147	T	0.46	.	13.8545	0.63517	0.0:0.9262:0.0:0.0738	.	2932;2932;2873	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Q	2874;2932;2793;2931;2873	ENSP00000383047:R2874Q;ENSP00000430733:R2932Q;ENSP00000441462:R2931Q;ENSP00000446243:R2873Q	ENSP00000320445:R2793Q	R	-	2	0	CSMD1	2818177	1.000000	0.71417	0.910000	0.35882	0.066000	0.16364	7.453000	0.80700	1.191000	0.43056	0.655000	0.94253	CGG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	178	0.00	0	C	NM_033225		2830770	2830770	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	92	32.35	44	SNP	0.997	T
CSPG4	1464	genome.wustl.edu	37	15	75983021	75983021	+	Silent	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr15:75983021G>A	ENST00000308508.5	-	3	477	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	129	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCGTTCAGAAACCCATCG	0.627																																						dbGAP											0													52.0	53.0	53.0					15																	75983021		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.385C>T	15.37:g.75983021G>A			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.L129	ENST00000308508.5	37	c.385	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	11	0.00	0	G	NM_001897		75983021	75983021	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	silent	5	54.55	6	SNP	0.431	A
CSPG4	1464	genome.wustl.edu	37	15	75983021	75983021	+	Silent	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr15:75983021G>A	ENST00000308508.5	-	3	477	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	129	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCGTTCAGAAACCCATCG	0.627																																						dbGAP											0													52.0	53.0	53.0					15																	75983021		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.385C>T	15.37:g.75983021G>A			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.L129	ENST00000308508.5	37	c.385	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	14	0.00	0	G	NM_001897		75983021	75983021	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	silent	5	54.55	6	SNP	0.431	A
DDX5	1655	genome.wustl.edu	37	17	62496266	62496266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr17:62496266delG	ENST00000225792.5	-	13	2021	c.1620delC	c.(1618-1620)tacfs	p.Y540fs	MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Frame_Shift_Del_p.Y540fs|DDX5_ENST00000450599.2_Frame_Shift_Del_p.Y461fs|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	540	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCATTGGTGTAATTTGCAG	0.408			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	dbGAP		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													137.0	139.0	138.0					17																	62496266		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1620delC	17.37:g.62496266delG	ENSP00000225792:p.Tyr540fs		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y540fs	ENST00000225792.5	37	c.1620	CCDS11659.1	17																																																																																			DDX5	-	NULL	ENSG00000108654		0.408	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	347	0.00	0	G	NM_004396		62496266	62496266	-1	no_errors	ENST00000225792	ensembl	human	known	69_37n	frame_shift_del	180	23.48	58	DEL	0.998	-
DDX5	1655	genome.wustl.edu	37	17	62496266	62496266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr17:62496266delG	ENST00000225792.5	-	13	2021	c.1620delC	c.(1618-1620)tacfs	p.Y540fs	MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Frame_Shift_Del_p.Y540fs|DDX5_ENST00000450599.2_Frame_Shift_Del_p.Y461fs|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	540	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCATTGGTGTAATTTGCAG	0.408			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	dbGAP		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													137.0	139.0	138.0					17																	62496266		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1620delC	17.37:g.62496266delG	ENSP00000225792:p.Tyr540fs		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y540fs	ENST00000225792.5	37	c.1620	CCDS11659.1	17																																																																																			DDX5	-	NULL	ENSG00000108654		0.408	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	246	0.00	0	G	NM_004396		62496266	62496266	-1	no_errors	ENST00000225792	ensembl	human	known	69_37n	frame_shift_del	180	23.48	58	DEL	0.998	-
DEAF1	10522	genome.wustl.edu	37	11	678769	678770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr11:678769_678770insC	ENST00000382409.3	-	9	1663_1664	c.1179_1180insG	c.(1177-1182)cactacfs	p.Y394fs	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Frame_Shift_Ins_p.Y305fs	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	394	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TAGCCGGGGTAGTGAGGCTCAG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1179_1180insG	11.37:g.678769_678770insC	ENSP00000371846:p.Tyr394fs		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Frame_Shift_Ins	INS	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.Y393fs	ENST00000382409.3	37	c.1180_1179	CCDS31327.1	11																																																																																			DEAF1	-	NULL	ENSG00000177030		0.574	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	58	0.00	0	-	NM_021008		678769	678770	-1	no_errors	ENST00000382409	ensembl	human	known	69_37n	frame_shift_ins	28	22.22	8	INS	1.000:1.000	C
DEAF1	10522	genome.wustl.edu	37	11	678769	678770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr11:678769_678770insC	ENST00000382409.3	-	9	1663_1664	c.1179_1180insG	c.(1177-1182)cactacfs	p.Y394fs	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Frame_Shift_Ins_p.Y305fs	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	394	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TAGCCGGGGTAGTGAGGCTCAG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1179_1180insG	11.37:g.678769_678770insC	ENSP00000371846:p.Tyr394fs		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Frame_Shift_Ins	INS	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.Y393fs	ENST00000382409.3	37	c.1180_1179	CCDS31327.1	11																																																																																			DEAF1	-	NULL	ENSG00000177030		0.574	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	54	0.00	0	-	NM_021008		678769	678770	-1	no_errors	ENST00000382409	ensembl	human	known	69_37n	frame_shift_ins	28	22.22	8	INS	1.000:1.000	C
DOCK3	1795	genome.wustl.edu	37	3	51417603	51417604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr3:51417603_51417604insC	ENST00000266037.9	+	52	5571_5572	c.5548_5549insC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTGGGTGATACCCCCCCAGCC	0.594																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5555dupC	3.37:g.51417610_51417610dupC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Ins	INS	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.A1853fs	ENST00000266037.9	37	c.5548_5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.594	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	13	0.00	0	-	NM_004947		51417603	51417604	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.453:0.115	C
DOCK3	1795	genome.wustl.edu	37	3	51417603	51417604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr3:51417603_51417604insC	ENST00000266037.9	+	52	5571_5572	c.5548_5549insC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTGGGTGATACCCCCCCAGCC	0.594																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5555dupC	3.37:g.51417610_51417610dupC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Ins	INS	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.A1853fs	ENST00000266037.9	37	c.5548_5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.594	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	10	0.00	0	-	NM_004947		51417603	51417604	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.453:0.115	C
DSCAML1	57453	genome.wustl.edu	37	11	117651408	117651408	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr11:117651408G>A	ENST00000321322.6	-	2	345	c.344C>T	c.(343-345)gCg>gTg	p.A115V	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	55	Ig-like C2-type 1.|Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCGAAGGGCCGCGCTGGGGGA	0.662																																						dbGAP											0													45.0	51.0	49.0					11																	117651408		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.344C>T	11.37:g.117651408G>A	ENSP00000315465:p.Ala115Val		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A115V	ENST00000321322.6	37	c.344	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711178	0.68730	.	.	ENSG00000177103	ENST00000321322	T	0.39229	1.09	5.1	4.08	0.47627	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21921	0.0528	N	0.11255	0.115	0.58432	D	0.999999	P	0.35456	0.502	B	0.26416	0.069	T	0.05022	-1.0911	9	0.32370	T	0.25	.	13.4983	0.61438	0.0815:0.0:0.9185:0.0	.	55	Q8TD84	DSCL1_HUMAN	V	115	ENSP00000315465:A115V	ENSP00000315465:A115V	A	-	2	0	DSCAML1	117156618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.148000	0.58085	1.121000	0.41925	0.563000	0.77884	GCG	DSCAML1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000177103		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	39	0.00	0	G	NM_020693		117651408	117651408	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	A
DSCAML1	57453	genome.wustl.edu	37	11	117651408	117651408	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr11:117651408G>A	ENST00000321322.6	-	2	345	c.344C>T	c.(343-345)gCg>gTg	p.A115V	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	55	Ig-like C2-type 1.|Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCGAAGGGCCGCGCTGGGGGA	0.662																																						dbGAP											0													45.0	51.0	49.0					11																	117651408		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.344C>T	11.37:g.117651408G>A	ENSP00000315465:p.Ala115Val		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A115V	ENST00000321322.6	37	c.344	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711178	0.68730	.	.	ENSG00000177103	ENST00000321322	T	0.39229	1.09	5.1	4.08	0.47627	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21921	0.0528	N	0.11255	0.115	0.58432	D	0.999999	P	0.35456	0.502	B	0.26416	0.069	T	0.05022	-1.0911	9	0.32370	T	0.25	.	13.4983	0.61438	0.0815:0.0:0.9185:0.0	.	55	Q8TD84	DSCL1_HUMAN	V	115	ENSP00000315465:A115V	ENSP00000315465:A115V	A	-	2	0	DSCAML1	117156618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.148000	0.58085	1.121000	0.41925	0.563000	0.77884	GCG	DSCAML1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000177103		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	23	0.00	0	G	NM_020693		117651408	117651408	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	A
ENPEP	2028	genome.wustl.edu	37	4	111469355	111469355	+	Missense_Mutation	SNP	T	T	G	rs71603079		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr4:111469355T>G	ENST00000265162.5	+	14	2366	c.2024T>G	c.(2023-2025)gTg>gGg	p.V675G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	675					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GATTATAAGGTGGCTTTGAAC	0.308																																						dbGAP											0													57.0	58.0	57.0					4																	111469355		2202	4299	6501	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2024T>G	4.37:g.111469355T>G	ENSP00000265162:p.Val675Gly		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V675G	ENST00000265162.5	37	c.2024	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094538	0.36952	.	.	ENSG00000138792	ENST00000265162	T	0.04360	3.64	5.35	-3.95	0.04118	.	1.034610	0.07588	N	0.921382	T	0.06600	0.0169	M	0.79258	2.445	0.09310	N	0.99999	B	0.26147	0.143	B	0.31101	0.124	T	0.45629	-0.9248	10	0.15952	T	0.53	.	4.5544	0.12130	0.4428:0.1903:0.0:0.3669	.	675	Q07075	AMPE_HUMAN	G	675	ENSP00000265162:V675G	ENSP00000265162:V675G	V	+	2	0	ENPEP	111688804	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	-1.378000	0.02556	-0.825000	0.04290	0.533000	0.62120	GTG	ENPEP	-	NULL	ENSG00000138792		0.308	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	22	0.00	0	T			111469355	111469355	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.000	G
ETAA1	54465	genome.wustl.edu	37	2	67631500	67631500	+	Silent	SNP	T	T	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr2:67631500T>C	ENST00000272342.5	+	5	1816	c.1686T>C	c.(1684-1686)gtT>gtC	p.V562V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	562						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAACCAGTGTTAGTAACCCAA	0.338																																						dbGAP											0													67.0	69.0	68.0					2																	67631500		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1686T>C	2.37:g.67631500T>C			Q05BT7|Q53SC4	Silent	SNP	NULL	p.V562	ENST00000272342.5	37	c.1686	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	158	0.00	0	T	NM_019002		67631500	67631500	+1	no_errors	ENST00000272342	ensembl	human	known	69_37n	silent	93	29.55	39	SNP	0.000	C
ETAA1	54465	genome.wustl.edu	37	2	67631500	67631500	+	Silent	SNP	T	T	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr2:67631500T>C	ENST00000272342.5	+	5	1816	c.1686T>C	c.(1684-1686)gtT>gtC	p.V562V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	562						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAACCAGTGTTAGTAACCCAA	0.338																																						dbGAP											0													67.0	69.0	68.0					2																	67631500		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1686T>C	2.37:g.67631500T>C			Q05BT7|Q53SC4	Silent	SNP	NULL	p.V562	ENST00000272342.5	37	c.1686	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	170	0.00	0	T	NM_019002		67631500	67631500	+1	no_errors	ENST00000272342	ensembl	human	known	69_37n	silent	93	29.55	39	SNP	0.000	C
FCGBP	8857	genome.wustl.edu	37	19	40370471	40370471	+	Silent	SNP	G	G	A	rs59195224		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr19:40370471G>A	ENST00000221347.6	-	27	12202	c.12195C>T	c.(12193-12195)ggC>ggT	p.G4065G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4065						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCACACGCCCTGGCCAC	0.642																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12195C>T	19.37:g.40370471G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G4065	ENST00000221347.6	37	c.12195	CCDS12546.1	19																																																																																			FCGBP	-	smart_Fol_N,smart_VWF_type-D	ENSG00000090920		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	8	0.00	0	G	NM_003890		40370471	40370471	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	2	66.67	4	SNP	0.017	A
FCGBP	8857	genome.wustl.edu	37	19	40383695	40383695	+	Silent	SNP	T	T	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr19:40383695T>C	ENST00000221347.6	-	21	9922	c.9915A>G	c.(9913-9915)ggA>ggG	p.G3305G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3305	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAAGGGTGGTCCGTGGCAGG	0.602																																						dbGAP											0													1.0	1.0	1.0					19																	40383695		147	725	872	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9915A>G	19.37:g.40383695T>C			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G3305	ENST00000221347.6	37	c.9915	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	27	0.00	0	T	NM_003890		40383695	40383695	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.000	C
HDAC11	79885	genome.wustl.edu	37	3	13538267	13538268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr3:13538267_13538268insC	ENST00000295757.3	+	4	467_468	c.284_285insC	c.(283-288)atccccfs	p.IP95fs	HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Ins_p.IP67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000433119.1_Frame_Shift_Ins_p.IP67fs	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCACAGAAATCCCCCCCGTTA	0.579											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0									,	2,4264		0,2,2131					,	5.0	1.0			94	3,8251		0,3,4124	no	frameshift,intron	HDAC11	NM_024827.3,NM_001136041.2	,	0,5,6255	A1A1,A1R,RR		0.0363,0.0469,0.0399	,	,		5,12515				-	-	-	SO:0001589	frameshift_variant	0			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.291dupC	3.37:g.13538274_13538274dupC	ENSP00000295757:p.Ile95fs	688	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,prints_His_deacetylse	p.V98fs	ENST00000295757.3	37	c.284_285	CCDS2615.1	3																																																																																			HDAC11	-	pfam_His_deacetylse_dom	ENSG00000163517		0.579	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5	32	0.00	0	-	NM_024827		13538267	13538268	+1	no_errors	ENST00000295757	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:1.000	C
HR	55806	genome.wustl.edu	37	8	21984854	21984855	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr8:21984854_21984855insCT	ENST00000381418.4	-	3	2580_2581	c.1100_1101insAG	c.(1099-1101)ggcfs	p.G367fs	HR_ENST00000312841.8_Frame_Shift_Ins_p.G367fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	367					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGCCCTGGGGCCAGAGGCCTT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1100_1101insAG	8.37:g.21984854_21984855insCT	ENSP00000370826:p.Gly367fs		Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P368fs	ENST00000381418.4	37	c.1101_1100	CCDS6022.1	8																																																																																			HR	-	NULL	ENSG00000168453		0.649	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	10	0.00	0	-			21984854	21984855	-1	no_errors	ENST00000381418	ensembl	human	known	69_37n	frame_shift_ins	8	33.33	4	INS	0.000:0.001	CT
HR	55806	genome.wustl.edu	37	8	21984854	21984855	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr8:21984854_21984855insCT	ENST00000381418.4	-	3	2580_2581	c.1100_1101insAG	c.(1099-1101)ggcfs	p.G367fs	HR_ENST00000312841.8_Frame_Shift_Ins_p.G367fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	367					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGCCCTGGGGCCAGAGGCCTT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1100_1101insAG	8.37:g.21984854_21984855insCT	ENSP00000370826:p.Gly367fs		Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P368fs	ENST00000381418.4	37	c.1101_1100	CCDS6022.1	8																																																																																			HR	-	NULL	ENSG00000168453		0.649	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	41	0.00	0	-			21984854	21984855	-1	no_errors	ENST00000381418	ensembl	human	known	69_37n	frame_shift_ins	8	33.33	4	INS	0.000:0.001	CT
HRNR	388697	genome.wustl.edu	37	1	152188277	152188277	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr1:152188277G>T	ENST00000368801.2	-	3	5903	c.5828C>A	c.(5827-5829)tCt>tAt	p.S1943Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1943					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCAGATCCAGACCC	0.597																																						dbGAP											0													43.0	77.0	66.0					1																	152188277		1953	4101	6054	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5828C>A	1.37:g.152188277G>T	ENSP00000357791:p.Ser1943Tyr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1943Y	ENST00000368801.2	37	c.5828	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	4.849	0.157902	0.09236	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	3.03	1.07	0.20283	.	.	.	.	.	T	0.03651	0.0104	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.62813	0.907	T	0.37220	-0.9715	9	0.59425	D	0.04	.	5.3013	0.15780	0.2867:0.0:0.7133:0.0	.	1943	Q86YZ3	HORN_HUMAN	Y	1943	ENSP00000357791:S1943Y	ENSP00000357791:S1943Y	S	-	2	0	HRNR	150454901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.114000	0.15520	0.155000	0.19261	0.558000	0.71614	TCT	HRNR	-	NULL	ENSG00000197915		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	73	0.00	0	G	XM_373868		152188277	152188277	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.001	T
HRNR	388697	genome.wustl.edu	37	1	152188277	152188277	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr1:152188277G>T	ENST00000368801.2	-	3	5903	c.5828C>A	c.(5827-5829)tCt>tAt	p.S1943Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1943					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCAGATCCAGACCC	0.597																																						dbGAP											0													43.0	77.0	66.0					1																	152188277		1953	4101	6054	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5828C>A	1.37:g.152188277G>T	ENSP00000357791:p.Ser1943Tyr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1943Y	ENST00000368801.2	37	c.5828	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	4.849	0.157902	0.09236	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	3.03	1.07	0.20283	.	.	.	.	.	T	0.03651	0.0104	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.62813	0.907	T	0.37220	-0.9715	9	0.59425	D	0.04	.	5.3013	0.15780	0.2867:0.0:0.7133:0.0	.	1943	Q86YZ3	HORN_HUMAN	Y	1943	ENSP00000357791:S1943Y	ENSP00000357791:S1943Y	S	-	2	0	HRNR	150454901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.114000	0.15520	0.155000	0.19261	0.558000	0.71614	TCT	HRNR	-	NULL	ENSG00000197915		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	155	0.00	0	G	XM_373868		152188277	152188277	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.001	T
ILF3	3609	genome.wustl.edu	37	19	10792682	10792683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr19:10792682_10792683insC	ENST00000590261.1	+	11	1194_1195	c.1194_1195insC	c.(1195-1197)cccfs	p.P399fs	ILF3_ENST00000407004.3_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000420083.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000592763.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000589998.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000318511.3_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000588657.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000250241.8_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000449870.1_Frame_Shift_Ins_p.P399fs			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	399	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q401fs*39(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGGCAGAGCCCCCCCAGGC	0.604																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1201dupC	19.37:g.10792689_10792689dupC	ENSP00000468156:p.Pro399fs		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Frame_Shift_Ins	INS	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.Q400fs	ENST00000590261.1	37	c.1194_1195	CCDS12246.1	19																																																																																			ILF3	-	pfscan_Ds-RNA-bd	ENSG00000129351		0.604	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	23	0.00	0	-			10792682	10792683	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	frame_shift_ins	7	30.00	3	INS	1.000:1.000	C
KDM5C	8242	genome.wustl.edu	37	X	53247017	53247017	+	Silent	SNP	A	A	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chrX:53247017A>C	ENST00000375401.3	-	4	1015	c.483T>G	c.(481-483)gtT>gtG	p.V161V	KDM5C_ENST00000375383.3_Silent_p.V120V|KDM5C_ENST00000404049.3_Silent_p.V161V|KDM5C_ENST00000452825.3_Silent_p.V94V|KDM5C_ENST00000375379.3_Silent_p.V161V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	161	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CATAGGGATAAACAATGCGTT	0.537			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													108.0	79.0	89.0					X																	53247017		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.483T>G	X.37:g.53247017A>C			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.V161	ENST00000375401.3	37	c.483	CCDS14351.1	X																																																																																			KDM5C	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000126012		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	216	0.46	1	A	NM_004187		53247017	53247017	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	silent	70	24.73	23	SNP	1.000	C
KDM5C	8242	genome.wustl.edu	37	X	53247017	53247017	+	Silent	SNP	A	A	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chrX:53247017A>C	ENST00000375401.3	-	4	1015	c.483T>G	c.(481-483)gtT>gtG	p.V161V	KDM5C_ENST00000375383.3_Silent_p.V120V|KDM5C_ENST00000404049.3_Silent_p.V161V|KDM5C_ENST00000452825.3_Silent_p.V94V|KDM5C_ENST00000375379.3_Silent_p.V161V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	161	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CATAGGGATAAACAATGCGTT	0.537			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													108.0	79.0	89.0					X																	53247017		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.483T>G	X.37:g.53247017A>C			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.V161	ENST00000375401.3	37	c.483	CCDS14351.1	X																																																																																			KDM5C	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000126012		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	100	0.00	0	A	NM_004187		53247017	53247017	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	silent	70	24.73	23	SNP	1.000	C
KIAA1598	57698	genome.wustl.edu	37	10	118661341	118661342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr10:118661341_118661342insG	ENST00000355371.4	-	16	2104_2105	c.1607_1608insC	c.(1606-1608)ccafs	p.P536fs	KIAA1598_ENST00000392903.2_Frame_Shift_Ins_p.P536fs|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392901.4_Frame_Shift_Ins_p.P476fs|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	536					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCAGGTGTTGGGGGGGACGG	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1608dupC	10.37:g.118661348_118661348dupG	ENSP00000347532:p.Pro536fs		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Frame_Shift_Ins	INS	superfamily_Adenylate_cyclase-assoc_CAP_N	p.T537fs	ENST00000355371.4	37	c.1608_1607	CCDS44482.1	10																																																																																			KIAA1598	-	NULL	ENSG00000187164		0.475	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		47	0.00	0	-	NM_018330		118661341	118661342	-1	no_errors	ENST00000392903	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	0.988:0.994	G
NLE1	54475	genome.wustl.edu	37	17	33463230	33463230	+	Silent	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr17:33463230C>T	ENST00000442241.4	-	9	1008	c.969G>A	c.(967-969)caG>caA	p.Q323Q	NLE1_ENST00000360831.5_Silent_p.Q281Q|NLE1_ENST00000586869.1_Silent_p.Q31Q|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	323					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCTTCAACTCCTGCACTGTGA	0.532																																						dbGAP											0													155.0	160.0	159.0					17																	33463230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.969G>A	17.37:g.33463230C>T			O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R103K	ENST00000442241.4	37	c.308	CCDS11291.1	17	.	.	.	.	.	.	.	.	.	.	C	6.090	0.384927	0.11524	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.25	4.29	0.51040	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	-7.5116	8.081	0.30744	0.0:0.8216:0.0:0.1784	.	.	.	.	K	103	.	.	R	-	2	0	NLE1	30487343	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.817000	0.27281	1.454000	0.47793	-0.244000	0.11960	AGG	NLE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000073536		0.532	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	272	0.00	0	C	NM_018096		33463230	33463230	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588019	ensembl	human	novel	69_37n	missense	69	28.57	28	SNP	1.000	T
NLE1	54475	genome.wustl.edu	37	17	33463230	33463230	+	Silent	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr17:33463230C>T	ENST00000442241.4	-	9	1008	c.969G>A	c.(967-969)caG>caA	p.Q323Q	NLE1_ENST00000360831.5_Silent_p.Q281Q|NLE1_ENST00000586869.1_Silent_p.Q31Q|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	323					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCTTCAACTCCTGCACTGTGA	0.532																																						dbGAP											0													155.0	160.0	159.0					17																	33463230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.969G>A	17.37:g.33463230C>T			O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R103K	ENST00000442241.4	37	c.308	CCDS11291.1	17	.	.	.	.	.	.	.	.	.	.	C	6.090	0.384927	0.11524	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.25	4.29	0.51040	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	-7.5116	8.081	0.30744	0.0:0.8216:0.0:0.1784	.	.	.	.	K	103	.	.	R	-	2	0	NLE1	30487343	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.817000	0.27281	1.454000	0.47793	-0.244000	0.11960	AGG	NLE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000073536		0.532	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	232	0.00	0	C	NM_018096		33463230	33463230	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588019	ensembl	human	novel	69_37n	missense	69	28.57	28	SNP	1.000	T
KRT36	8689	genome.wustl.edu	37	17	39645738	39645738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr17:39645738C>A	ENST00000328119.6	-	1	378	c.379G>T	c.(379-381)Gag>Tag	p.E127*	KRT36_ENST00000393986.2_Nonsense_Mutation_p.E77*	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	127	Coil 1A.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCGTACCACTCCTGGATGCGG	0.572																																						dbGAP											0													155.0	141.0	145.0					17																	39645738		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.379G>T	17.37:g.39645738C>A	ENSP00000329165:p.Glu127*		Q86XG4	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E127*	ENST00000328119.6	37	c.379	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968360	0.92855	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	.	.	.	5.57	3.45	0.39498	.	0.129435	0.35013	N	0.003507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6536	0.77115	0.0:0.7406:0.2594:0.0	.	.	.	.	X	77;127	.	ENSP00000329165:E127X	E	-	1	0	KRT36	36899264	0.772000	0.28567	0.896000	0.35187	0.938000	0.57974	1.466000	0.35310	1.329000	0.45376	0.563000	0.77884	GAG	KRT36	-	pfam_F	ENSG00000126337		0.572	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	151	0.00	0	C	NM_003771		39645738	39645738	-1	no_errors	ENST00000328119	ensembl	human	known	69_37n	nonsense	49	33.78	25	SNP	0.939	A
KRT36	8689	genome.wustl.edu	37	17	39645738	39645738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr17:39645738C>A	ENST00000328119.6	-	1	378	c.379G>T	c.(379-381)Gag>Tag	p.E127*	KRT36_ENST00000393986.2_Nonsense_Mutation_p.E77*	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	127	Coil 1A.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCGTACCACTCCTGGATGCGG	0.572																																						dbGAP											0													155.0	141.0	145.0					17																	39645738		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.379G>T	17.37:g.39645738C>A	ENSP00000329165:p.Glu127*		Q86XG4	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E127*	ENST00000328119.6	37	c.379	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968360	0.92855	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	.	.	.	5.57	3.45	0.39498	.	0.129435	0.35013	N	0.003507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6536	0.77115	0.0:0.7406:0.2594:0.0	.	.	.	.	X	77;127	.	ENSP00000329165:E127X	E	-	1	0	KRT36	36899264	0.772000	0.28567	0.896000	0.35187	0.938000	0.57974	1.466000	0.35310	1.329000	0.45376	0.563000	0.77884	GAG	KRT36	-	pfam_F	ENSG00000126337		0.572	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	114	0.00	0	C	NM_003771		39645738	39645738	-1	no_errors	ENST00000328119	ensembl	human	known	69_37n	nonsense	49	33.78	25	SNP	0.939	A
OSBPL8	114882	genome.wustl.edu	37	12	76793679	76793679	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr12:76793679C>T	ENST00000261183.3	-	7	921	c.442G>A	c.(442-444)Gtt>Att	p.V148I	OSBPL8_ENST00000393250.4_Missense_Mutation_p.V106I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.V106I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	148	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATAACAATAACAGAAGGATCT	0.358																																						dbGAP											0													126.0	121.0	123.0					12																	76793679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.442G>A	12.37:g.76793679C>T	ENSP00000261183:p.Val148Ile		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V148I	ENST00000261183.3	37	c.442	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.517352	0.96416	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946;ENST00000548341;ENST00000553139	T;T;T;T;T;T;T	0.60797	1.13;2.69;1.13;2.69;0.61;2.69;0.16	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	L	0.50333	1.59	0.80722	D	1	P;P	0.51147	0.907;0.942	P;P	0.54270	0.747;0.562	T	0.65372	-0.6184	10	0.49607	T	0.09	-16.9308	20.5373	0.99239	0.0:1.0:0.0:0.0	.	123;148	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	I	106;148;133;106;148;148;123;135;106	ENSP00000376939:V106I;ENSP00000261183:V148I;ENSP00000376940:V106I;ENSP00000450238:V148I;ENSP00000447893:V123I;ENSP00000446886:V135I;ENSP00000449618:V106I	ENSP00000261183:V148I	V	-	1	0	OSBPL8	75317810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.699000	0.84547	2.857000	0.98124	0.650000	0.86243	GTT	OSBPL8	-	pfscan_Pleckstrin_homology	ENSG00000091039		0.358	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	103	0.00	0	C	NM_020841		76793679	76793679	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	T
OSBPL8	114882	genome.wustl.edu	37	12	76793679	76793679	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr12:76793679C>T	ENST00000261183.3	-	7	921	c.442G>A	c.(442-444)Gtt>Att	p.V148I	OSBPL8_ENST00000393250.4_Missense_Mutation_p.V106I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.V106I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	148	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATAACAATAACAGAAGGATCT	0.358																																						dbGAP											0													126.0	121.0	123.0					12																	76793679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.442G>A	12.37:g.76793679C>T	ENSP00000261183:p.Val148Ile		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V148I	ENST00000261183.3	37	c.442	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.517352	0.96416	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946;ENST00000548341;ENST00000553139	T;T;T;T;T;T;T	0.60797	1.13;2.69;1.13;2.69;0.61;2.69;0.16	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	L	0.50333	1.59	0.80722	D	1	P;P	0.51147	0.907;0.942	P;P	0.54270	0.747;0.562	T	0.65372	-0.6184	10	0.49607	T	0.09	-16.9308	20.5373	0.99239	0.0:1.0:0.0:0.0	.	123;148	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	I	106;148;133;106;148;148;123;135;106	ENSP00000376939:V106I;ENSP00000261183:V148I;ENSP00000376940:V106I;ENSP00000450238:V148I;ENSP00000447893:V123I;ENSP00000446886:V135I;ENSP00000449618:V106I	ENSP00000261183:V148I	V	-	1	0	OSBPL8	75317810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.699000	0.84547	2.857000	0.98124	0.650000	0.86243	GTT	OSBPL8	-	pfscan_Pleckstrin_homology	ENSG00000091039		0.358	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	107	0.00	0	C	NM_020841		76793679	76793679	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91873568	91873568	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chrX:91873568C>G	ENST00000373094.1	+	7	4518	c.3673C>G	c.(3673-3675)Cta>Gta	p.L1225V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.L1215V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L1207V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L1188V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L1217V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L1188V|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1225					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTCCTCCTCTAGTGCAGGC	0.592																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													191.0	157.0	169.0					X																	91873568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3673C>G	X.37:g.91873568C>G	ENSP00000362186:p.Leu1225Val		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1225V	ENST00000373094.1	37	c.3673	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754909	0.31046	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.58940	0.34;0.34;0.34;0.3;0.34;0.35	3.37	1.37	0.22104	.	.	.	.	.	T	0.27731	0.0682	N	0.08118	0	0.18873	N	0.999984	B;B;B;B;B	0.33807	0.426;0.426;0.426;0.426;0.3	B;B;B;B;B	0.25405	0.06;0.06;0.06;0.06;0.027	T	0.17531	-1.0366	9	0.56958	D	0.05	.	1.1947	0.01872	0.2234:0.4168:0.216:0.1437	.	1188;1207;1217;1215;1225	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	V	1225;1215;1188;1207;1217;1225;1188	ENSP00000362186:L1225V;ENSP00000362189:L1215V;ENSP00000362180:L1188V;ENSP00000355105:L1207V;ENSP00000384758:L1217V;ENSP00000298274:L1188V	ENSP00000298274:L1188V	L	+	1	2	PCDH11X	91760224	0.002000	0.14202	0.977000	0.42913	0.508000	0.34012	0.647000	0.24812	0.596000	0.29794	0.466000	0.42574	CTA	PCDH11X	-	NULL	ENSG00000102290		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	333	0.00	0	C	NM_032969		91873568	91873568	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	175	24.89	58	SNP	0.822	G
PCDH11X	27328	genome.wustl.edu	37	X	91873568	91873568	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chrX:91873568C>G	ENST00000373094.1	+	7	4518	c.3673C>G	c.(3673-3675)Cta>Gta	p.L1225V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.L1215V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L1207V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L1188V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L1217V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L1188V|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1225					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTCCTCCTCTAGTGCAGGC	0.592																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													191.0	157.0	169.0					X																	91873568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3673C>G	X.37:g.91873568C>G	ENSP00000362186:p.Leu1225Val		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1225V	ENST00000373094.1	37	c.3673	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754909	0.31046	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.58940	0.34;0.34;0.34;0.3;0.34;0.35	3.37	1.37	0.22104	.	.	.	.	.	T	0.27731	0.0682	N	0.08118	0	0.18873	N	0.999984	B;B;B;B;B	0.33807	0.426;0.426;0.426;0.426;0.3	B;B;B;B;B	0.25405	0.06;0.06;0.06;0.06;0.027	T	0.17531	-1.0366	9	0.56958	D	0.05	.	1.1947	0.01872	0.2234:0.4168:0.216:0.1437	.	1188;1207;1217;1215;1225	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	V	1225;1215;1188;1207;1217;1225;1188	ENSP00000362186:L1225V;ENSP00000362189:L1215V;ENSP00000362180:L1188V;ENSP00000355105:L1207V;ENSP00000384758:L1217V;ENSP00000298274:L1188V	ENSP00000298274:L1188V	L	+	1	2	PCDH11X	91760224	0.002000	0.14202	0.977000	0.42913	0.508000	0.34012	0.647000	0.24812	0.596000	0.29794	0.466000	0.42574	CTA	PCDH11X	-	NULL	ENSG00000102290		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	375	0.26	1	C	NM_032969		91873568	91873568	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	175	24.89	58	SNP	0.822	G
PCDHAC2	56134	genome.wustl.edu	37	5	140347311	140347312	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr5:140347311_140347312insG	ENST00000289269.5	+	1	1492_1493	c.960_961insG	c.(961-963)gggfs	p.G321fs	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGAGTAATTGGGGGGCTGGA	0.589																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.966dupG	5.37:g.140347317_140347317dupG	ENSP00000289269:p.Gly321fs		Q2M3V1|Q9Y5F4	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L322fs	ENST00000289269.5	37	c.960_961	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.589	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	43	0.00	0	-	NM_018899		140347311	140347312	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.611:0.832	G
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	139	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	38.78	38	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	113	0.87	1	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	38.78	38	SNP	1.000	A
PIPSL	266971	genome.wustl.edu	37	10	95720929	95720929	+	RNA	SNP	C	C	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr10:95720929C>A	ENST00000480546.1	-	0	368					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GAGCAGGGGTCAGGTTGCTCC	0.502																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720929C>A			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.502	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	312	0.00	0	C	NR_002319		95720929	95720929	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	114	12.31	16	SNP	1.000	A
PKD1L2	114780	genome.wustl.edu	37	16	81155268	81155269	+	RNA	INS	-	-	TTG	rs202177592		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr16:81155268_81155269insTTG	ENST00000534142.1	-	0	921_922				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCGTCGGTGAAGGGGTACA	0.599																																						dbGAP											0																																										-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155268_81155269insTTG			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	In_Frame_Ins	INS	NULL	p.2179in_frame_insK	ENST00000534142.1	37	c.6534_6533		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.599	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387969.1	19	0.00	0	-			81155268	81155269	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	in_frame_ins	4	33.33	2	INS	1.000:1.000	TTG
PRKAA1	5562	genome.wustl.edu	37	5	40798188	40798189	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr5:40798188_40798189insC	ENST00000397128.2	-	1	111_112	c.103_104insG	c.(103-105)gtcfs	p.V35fs	PRKAA1_ENST00000296800.4_Frame_Shift_Ins_p.V26fs|PRKAA1_ENST00000354209.3_Frame_Shift_Ins_p.V35fs	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GAAGGTGCCGACCCCCAGCGTG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.104dupG	5.37:g.40798193_40798193dupC	ENSP00000380317:p.Val35fs		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V35fs	ENST00000397128.2	37	c.104_103	CCDS3932.2	5																																																																																			PRKAA1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000132356		0.619	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	11	0.00	0	-	NM_006251		40798188	40798189	-1	no_errors	ENST00000354209	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
RAD54B	25788	genome.wustl.edu	37	8	95384609	95384609	+	Nonsense_Mutation	SNP	G	G	T	rs199673928		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr8:95384609G>T	ENST00000336148.5	-	15	2646	c.2522C>A	c.(2521-2523)tCg>tAg	p.S841*	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	841					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTTTCCAACGAATCACCTGT	0.353								Direct reversal of damage;Homologous recombination																														dbGAP											0													69.0	70.0	70.0					8																	95384609		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2522C>A	8.37:g.95384609G>T	ENSP00000336606:p.Ser841*		F6WBS8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S841*	ENST00000336148.5	37	c.2522	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.406876	0.97542	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.68	4.8	0.61643	.	0.331614	0.32488	N	0.006025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3006	15.0412	0.71793	0.0693:0.0:0.9307:0.0	.	.	.	.	X	841;513	.	ENSP00000336606:S841X	S	-	2	0	RAD54B	95453785	0.993000	0.37304	0.869000	0.34112	0.239000	0.25481	2.980000	0.49321	2.693000	0.91896	0.655000	0.94253	TCG	RAD54B	-	NULL	ENSG00000197275		0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	73	0.00	0	G	NM_012415		95384609	95384609	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	nonsense	48	31.43	22	SNP	0.992	T
RAD54B	25788	genome.wustl.edu	37	8	95384609	95384609	+	Nonsense_Mutation	SNP	G	G	T	rs199673928		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr8:95384609G>T	ENST00000336148.5	-	15	2646	c.2522C>A	c.(2521-2523)tCg>tAg	p.S841*	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	841					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTTTCCAACGAATCACCTGT	0.353								Direct reversal of damage;Homologous recombination																														dbGAP											0													69.0	70.0	70.0					8																	95384609		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2522C>A	8.37:g.95384609G>T	ENSP00000336606:p.Ser841*		F6WBS8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S841*	ENST00000336148.5	37	c.2522	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.406876	0.97542	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.68	4.8	0.61643	.	0.331614	0.32488	N	0.006025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3006	15.0412	0.71793	0.0693:0.0:0.9307:0.0	.	.	.	.	X	841;513	.	ENSP00000336606:S841X	S	-	2	0	RAD54B	95453785	0.993000	0.37304	0.869000	0.34112	0.239000	0.25481	2.980000	0.49321	2.693000	0.91896	0.655000	0.94253	TCG	RAD54B	-	NULL	ENSG00000197275		0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	103	0.00	0	G	NM_012415		95384609	95384609	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	nonsense	48	31.43	22	SNP	0.992	T
RGL2	5863	genome.wustl.edu	37	6	33260312	33260312	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr6:33260312G>C	ENST00000497454.1	-	17	2512	c.2017C>G	c.(2017-2019)Cag>Gag	p.Q673E	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	673	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCTTGTCCTGGCTTGTCACC	0.493																																						dbGAP											0													104.0	95.0	98.0					6																	33260312		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2017C>G	6.37:g.33260312G>C	ENSP00000420211:p.Gln673Glu		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q673E	ENST00000497454.1	37	c.2017	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930742	0.34096	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.16743	2.32	4.72	4.72	0.59763	Ras-association (3);	0.131674	0.51477	D	0.000093	T	0.25865	0.0630	M	0.62088	1.915	0.80722	D	1	D	0.57571	0.98	P	0.61592	0.891	T	0.01074	-1.1460	10	0.87932	D	0	.	13.0733	0.59074	0.0:0.0:1.0:0.0	.	673	O15211	RGL2_HUMAN	E	673;537	ENSP00000420211:Q673E	ENSP00000400083:Q537E	Q	-	1	0	RGL2	33368290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.786000	0.55431	2.433000	0.82419	0.643000	0.83706	CAG	RGL2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000237441		0.493	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	120	0.00	0	G			33260312	33260312	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	C
RGL2	5863	genome.wustl.edu	37	6	33260312	33260312	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr6:33260312G>C	ENST00000497454.1	-	17	2512	c.2017C>G	c.(2017-2019)Cag>Gag	p.Q673E	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	673	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCTTGTCCTGGCTTGTCACC	0.493																																						dbGAP											0													104.0	95.0	98.0					6																	33260312		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2017C>G	6.37:g.33260312G>C	ENSP00000420211:p.Gln673Glu		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q673E	ENST00000497454.1	37	c.2017	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930742	0.34096	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.16743	2.32	4.72	4.72	0.59763	Ras-association (3);	0.131674	0.51477	D	0.000093	T	0.25865	0.0630	M	0.62088	1.915	0.80722	D	1	D	0.57571	0.98	P	0.61592	0.891	T	0.01074	-1.1460	10	0.87932	D	0	.	13.0733	0.59074	0.0:0.0:1.0:0.0	.	673	O15211	RGL2_HUMAN	E	673;537	ENSP00000420211:Q673E	ENSP00000400083:Q537E	Q	-	1	0	RGL2	33368290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.786000	0.55431	2.433000	0.82419	0.643000	0.83706	CAG	RGL2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000237441		0.493	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	90	0.00	0	G			33260312	33260312	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	C
RPN1	6184	genome.wustl.edu	37	3	128356884	128356884	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr3:128356884C>T	ENST00000296255.3	-	3	439	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	RPN1_ENST00000497289.1_De_novo_Start_InFrame	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	131					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ACTGTTTCCACAATGACTGAA	0.463			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													130.0	108.0	116.0					3																	128356884		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.391G>A	3.37:g.128356884C>T	ENSP00000296255:p.Val131Met		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.V131M	ENST00000296255.3	37	c.391	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810306	0.70797	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.68	3.61	0.41365	.	0.118323	0.56097	D	0.000028	T	0.78904	0.4357	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	D	0.68943	0.961	T	0.80652	-0.1287	9	0.87932	D	0	-11.1481	7.6031	0.28087	0.1592:0.7021:0.0:0.1387	.	131	P04843	RPN1_HUMAN	M	131;105	.	ENSP00000296255:V131M	V	-	1	0	RPN1	129839574	0.939000	0.31865	0.869000	0.34112	0.990000	0.78478	1.975000	0.40569	1.367000	0.46095	0.591000	0.81541	GTG	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.463	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	84	0.00	0	C	NM_002950		128356884	128356884	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	0.825	T
RPN1	6184	genome.wustl.edu	37	3	128356884	128356884	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr3:128356884C>T	ENST00000296255.3	-	3	439	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	RPN1_ENST00000497289.1_De_novo_Start_InFrame	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	131					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ACTGTTTCCACAATGACTGAA	0.463			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													130.0	108.0	116.0					3																	128356884		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.391G>A	3.37:g.128356884C>T	ENSP00000296255:p.Val131Met		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.V131M	ENST00000296255.3	37	c.391	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810306	0.70797	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.68	3.61	0.41365	.	0.118323	0.56097	D	0.000028	T	0.78904	0.4357	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	D	0.68943	0.961	T	0.80652	-0.1287	9	0.87932	D	0	-11.1481	7.6031	0.28087	0.1592:0.7021:0.0:0.1387	.	131	P04843	RPN1_HUMAN	M	131;105	.	ENSP00000296255:V131M	V	-	1	0	RPN1	129839574	0.939000	0.31865	0.869000	0.34112	0.990000	0.78478	1.975000	0.40569	1.367000	0.46095	0.591000	0.81541	GTG	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.463	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	80	0.00	0	C	NM_002950		128356884	128356884	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	0.825	T
RUNX1	861	genome.wustl.edu	37	21	36171704	36171705	+	Frame_Shift_Ins	INS	-	-	TA	rs121912499		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr21:36171704_36171705insTA	ENST00000344691.4	-	5	2356_2357	c.779_780insTA	c.(778-780)tacfs	p.Y260fs	RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.Y196fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.Y287fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.Y275fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.Y287fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	260	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y287fs*197(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGATCCCAGGTATTGGTAGGA	0.52			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.778_779dupTA	21.37:g.36171705_36171706dupTA	ENSP00000340690:p.Tyr260fs		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L288fs	ENST00000344691.4	37	c.861_860	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.520	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	139	0.00	0	-			36171704	36171705	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_ins	39	43.48	30	INS	1.000:1.000	TA
RUNX1	861	genome.wustl.edu	37	21	36171704	36171705	+	Frame_Shift_Ins	INS	-	-	TA	rs121912499		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr21:36171704_36171705insTA	ENST00000344691.4	-	5	2356_2357	c.779_780insTA	c.(778-780)tacfs	p.Y260fs	RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.Y196fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.Y287fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.Y275fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.Y287fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	260	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y287fs*197(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGATCCCAGGTATTGGTAGGA	0.52			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.778_779dupTA	21.37:g.36171705_36171706dupTA	ENSP00000340690:p.Tyr260fs		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L288fs	ENST00000344691.4	37	c.861_860	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.520	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	64	0.00	0	-			36171704	36171705	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_ins	39	43.48	30	INS	1.000:1.000	TA
SPATC1	375686	genome.wustl.edu	37	8	145095485	145095486	+	Frame_Shift_Ins	INS	-	-	C	rs139626189		TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr8:145095485_145095486insC	ENST00000377470.3	+	3	885_886	c.783_784insC	c.(784-786)cccfs	p.P262fs	SPATC1_ENST00000447830.2_Frame_Shift_Ins_p.P262fs	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	262						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCACTGAGCCCCCCCAGTC	0.619																																						dbGAP											0									,	8,4256		0,8,2124					,	-0.2	0.0			104	11,8243		0,11,4116	no	frameshift,frameshift	SPATC1	NM_198572.2,NM_001134374.1	,	0,19,6240	A1A1,A1R,RR		0.1333,0.1876,0.1518	,	,		19,12499				-	-	-	SO:0001589	frameshift_variant	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.790dupC	8.37:g.145095492_145095492dupC	ENSP00000366690:p.Pro262fs		B4DWW9|Q5U5I8|Q7Z6L7	Frame_Shift_Ins	INS	NULL	p.Q263fs	ENST00000377470.3	37	c.783_784	CCDS6413.2	8																																																																																			SPATC1	-	NULL	ENSG00000186583		0.619	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	21	0.00	0	-	NM_198572		145095485	145095486	+1	no_errors	ENST00000377470	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.013:0.003	C
TANC1	85461	genome.wustl.edu	37	2	160031601	160031601	+	Silent	SNP	A	A	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr2:160031601A>G	ENST00000263635.6	+	12	1878	c.1641A>G	c.(1639-1641)caA>caG	p.Q547Q	TANC1_ENST00000454300.1_Silent_p.Q441Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	547					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGAGCCCCAACTACAGAGCA	0.572																																						dbGAP											0													92.0	95.0	94.0					2																	160031601		1987	4164	6151	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1641A>G	2.37:g.160031601A>G			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.Q547	ENST00000263635.6	37	c.1641	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	384	0.00	0	A			160031601	160031601	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	80	25.69	28	SNP	0.995	G
TANC1	85461	genome.wustl.edu	37	2	160031601	160031601	+	Silent	SNP	A	A	G			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr2:160031601A>G	ENST00000263635.6	+	12	1878	c.1641A>G	c.(1639-1641)caA>caG	p.Q547Q	TANC1_ENST00000454300.1_Silent_p.Q441Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	547					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGAGCCCCAACTACAGAGCA	0.572																																						dbGAP											0													92.0	95.0	94.0					2																	160031601		1987	4164	6151	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1641A>G	2.37:g.160031601A>G			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.Q547	ENST00000263635.6	37	c.1641	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	161	0.00	0	A			160031601	160031601	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	80	25.69	28	SNP	0.995	G
TESC	54997	genome.wustl.edu	37	12	117494613	117494613	+	Silent	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr12:117494613G>A	ENST00000335209.7	-	3	393	c.207C>T	c.(205-207)aaC>aaT	p.N69N	TESC_ENST00000541210.1_Intron|TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Silent_p.N122N			Q96BS2	CHP3_HUMAN	tescalcin	69					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		ACGCCCACCTGTTGTCGAAGA	0.512																																						dbGAP											0													144.0	111.0	122.0					12																	117494613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.207C>T	12.37:g.117494613G>A			F5H1Y5|Q9NWT9	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.N122	ENST00000335209.7	37	c.366	CCDS9183.3	12																																																																																			TESC	-	NULL	ENSG00000088992		0.512	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	21	0.00	0	G	NM_017899		117494613	117494613	-1	no_errors	ENST00000392545	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	A
TESC	54997	genome.wustl.edu	37	12	117494613	117494613	+	Silent	SNP	G	G	A			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr12:117494613G>A	ENST00000335209.7	-	3	393	c.207C>T	c.(205-207)aaC>aaT	p.N69N	TESC_ENST00000541210.1_Intron|TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Silent_p.N122N			Q96BS2	CHP3_HUMAN	tescalcin	69					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		ACGCCCACCTGTTGTCGAAGA	0.512																																						dbGAP											0													144.0	111.0	122.0					12																	117494613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.207C>T	12.37:g.117494613G>A			F5H1Y5|Q9NWT9	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.N122	ENST00000335209.7	37	c.366	CCDS9183.3	12																																																																																			TESC	-	NULL	ENSG00000088992		0.512	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	20	0.00	0	G	NM_017899		117494613	117494613	-1	no_errors	ENST00000392545	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	A
TSC1	7248	genome.wustl.edu	37	9	135797350	135797350	+	Silent	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr9:135797350C>T	ENST00000298552.3	-	7	740	c.519G>A	c.(517-519)gcG>gcA	p.A173A	TSC1_ENST00000403810.1_Silent_p.A173A|TSC1_ENST00000440111.2_Silent_p.A173A|TSC1_ENST00000545250.1_Silent_p.A122A|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	173					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATAGACTTCCGCCACGTGGC	0.488			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											102.0	96.0	98.0					9																	135797350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.519G>A	9.37:g.135797350C>T			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.A173	ENST00000298552.3	37	c.519	CCDS6956.1	9																																																																																			TSC1	-	pfam_Hamartin	ENSG00000165699		0.488	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	259	0.00	0	C			135797350	135797350	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	silent	106	28.38	42	SNP	0.856	T
TSC1	7248	genome.wustl.edu	37	9	135797350	135797350	+	Silent	SNP	C	C	T			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr9:135797350C>T	ENST00000298552.3	-	7	740	c.519G>A	c.(517-519)gcG>gcA	p.A173A	TSC1_ENST00000403810.1_Silent_p.A173A|TSC1_ENST00000440111.2_Silent_p.A173A|TSC1_ENST00000545250.1_Silent_p.A122A|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	173					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATAGACTTCCGCCACGTGGC	0.488			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											102.0	96.0	98.0					9																	135797350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.519G>A	9.37:g.135797350C>T			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.A173	ENST00000298552.3	37	c.519	CCDS6956.1	9																																																																																			TSC1	-	pfam_Hamartin	ENSG00000165699		0.488	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	143	0.00	0	C			135797350	135797350	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	silent	106	28.38	42	SNP	0.856	T
ZFHX3	463	genome.wustl.edu	37	16	72821959	72821960	+	Frame_Shift_Ins	INS	-	-	G	rs190630380|rs368754895	byFrequency	TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	e989de90-43bc-4b32-ba64-95d595d3d57c	g.chr16:72821959_72821960insG	ENST00000268489.5	-	10	10887_10888	c.10215_10216insC	c.(10213-10218)cccgggfs	p.G3406fs	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.G2492fs|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3406					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGGAGCCCCGGGGGGGACTG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10216dupC	16.37:g.72821966_72821966dupG	ENSP00000268489:p.Gly3406fs		D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G3405fs	ENST00000268489.5	37	c.10216_10215	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.599	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	55	0.00	0	-	NM_006885		72821959	72821960	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	1.000:0.977	G
ZNF271	10778	genome.wustl.edu	37	18	32888075	32888075	+	RNA	DEL	A	A	-			TCGA-BH-A0BM-01A-11W-A071-09	TCGA-BH-A0BM-11A-12W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800b3e93-7804-4773-bbc6-e8b3eff0912d	eb6628fe-e242-477d-8e3f-2963b0b6e760	g.chr18:32888075delA	ENST00000399070.3	+	0	2469					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ctgtctatttaaaaaaaaaaa	0.388																																						dbGAP											0																																										-	-	-			0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888075delA			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.388	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	8	0.00	0	A	NR_024565		32888075	32888075	+1	no_errors	ENST00000399070	ensembl	human	known	69_37n	rna	3	50.00	3	DEL	0.019	-
