#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
ABCA9	10350	genome.wustl.edu	37	17	67017883	67017883	+	Splice_Site	SNP	C	C	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr17:67017883C>G	ENST00000340001.4	-	18	2612	c.2401G>C	c.(2401-2403)Gat>Cat	p.D801H	ABCA9_ENST00000370732.2_Splice_Site_p.D801H|ABCA9_ENST00000453985.2_Splice_Site_p.D801H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	801					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					tttttcttACCTGATTCATCA	0.328																																						dbGAP											0													63.0	63.0	63.0					17																	67017883		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2401+1G>C	17.37:g.67017883C>G			Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D801H	ENST00000340001.4	37	c.2401	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735404	0.69189	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88586	-2.28;-2.4	5.12	5.12	0.69794	.	0.472058	0.17807	N	0.161360	D	0.93864	0.8037	M	0.75085	2.285	0.54753	D	0.999984	D;D	0.71674	0.998;0.994	D;P	0.70016	0.967;0.853	D	0.93361	0.6727	9	.	.	.	.	16.4054	0.83662	0.0:1.0:0.0:0.0	.	801;801	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	801;784;801;796	ENSP00000342216:D801H;ENSP00000359767:D801H	.	D	-	1	0	ABCA9	64529478	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	6.096000	0.71446	2.558000	0.86282	0.603000	0.83216	GAT	ABCA9	-	NULL	ENSG00000154258		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	49	0.00	0	C	NM_172386	Missense_Mutation	67017883	67017883	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	36	71.43	90	SNP	1.000	G
ABHD6	57406	genome.wustl.edu	37	3	58260470	58260470	+	Frame_Shift_Del	DEL	C	C	-	rs141502975		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr3:58260470delC	ENST00000478253.1	+	7	1110	c.609delC	c.(607-609)atcfs	p.I203fs	ABHD6_ENST00000295962.4_Frame_Shift_Del_p.I203fs			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	203					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTCCCTTGATCCCGTCTACCC	0.527																																						dbGAP											0													133.0	128.0	130.0					3																	58260470		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.609delC	3.37:g.58260470delC	ENSP00000420315:p.Ile203fs		B2R7Y9|Q6ZMF7	Frame_Shift_Del	DEL	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.P204fs	ENST00000478253.1	37	c.609	CCDS2887.1	3																																																																																			ABHD6	-	pfam_AB_hydrolase_1,pfam_Ndr	ENSG00000163686		0.527	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	49	0.00	0	C	NM_020676		58260470	58260470	+1	no_errors	ENST00000295962	ensembl	human	known	69_37n	frame_shift_del	28	63.16	48	DEL	1.000	-
ACTL6B	51412	genome.wustl.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)ccafs	p.P232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.696dupC	7.37:g.100245137_100245137dupG	ENSP00000160382:p.Pro232fs		A4D2D0|O75421	Frame_Shift_Ins	INS	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.N233fs	ENST00000160382.5	37	c.696_695	CCDS5702.1	7																																																																																			ACTL6B	-	pfam_Actin-like,smart_Actin-like	ENSG00000077080		0.609	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6B	HGNC	protein_coding	OTTHUMT00000356745.1	28	0.00	0	-	NM_016188		100245130	100245131	-1	no_errors	ENST00000160382	ensembl	human	known	69_37n	frame_shift_ins	45	13.46	7	INS	1.000:1.000	G
AGAP6	414189	genome.wustl.edu	37	10	51769058	51769058	+	Silent	SNP	G	G	A	rs200123722	byFrequency	TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr10:51769058G>A	ENST00000374056.4	+	7	1502	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	AGAP6_ENST00000412531.3_Silent_p.P391P			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	368	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCTCAACCCGCCCCCCTCTC	0.507																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1104G>A	10.37:g.51769058G>A				Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.P391	ENST00000374056.4	37	c.1173		10																																																																																			AGAP6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000204149		0.507	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		21	0.00	0	G	NM_001077665		51769058	51769058	+1	no_errors	ENST00000374056	ensembl	human	known	69_37n	silent	8	47.83	11	SNP	1.000	A
ANTXR2	118429	genome.wustl.edu	37	4	80905985	80905986	+	Frame_Shift_Ins	INS	-	-	G	rs312262690|rs312262693		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr4:80905985_80905986insG	ENST00000307333.7	-	13	1075_1076	c.1073_1074insC	c.(1072-1074)cctfs	p.P358fs	ANTXR2_ENST00000403729.2_Frame_Shift_Ins_p.P358fs|ANTXR2_ENST00000404191.1_Frame_Shift_Ins_p.P281fs|ANTXR2_ENST00000346652.6_Frame_Shift_Ins_p.P255fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	358	Poly-Pro.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CTTTTGGTGCAGGGGCGGGTGG	0.356									Juvenile Hyaline Fibromatosis																													dbGAP											0			GRCh37	CD033848|CI033875	ANTXR2	D|I																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1074dupC	4.37:g.80905989_80905989dupG	ENSP00000306185:p.Pro358fs		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Ins	INS	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A	p.A359fs	ENST00000307333.7	37	c.1074_1073	CCDS47086.1	4																																																																																			ANTXR2	-	pirsf_Anthrax_toxin_rcpt	ENSG00000163297		0.356	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	HGNC	protein_coding	OTTHUMT00000324663.1	188	0.00	0	-	NM_058172		80905985	80905986	-1	no_errors	ENST00000307333	ensembl	human	known	69_37n	frame_shift_ins	264	11.11	33	INS	0.994:0.992	G
ATP2A1	487	genome.wustl.edu	37	16	28909621	28909621	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr16:28909621C>T	ENST00000357084.3	+	14	1880	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	ATP2A1_ENST00000395503.4_Missense_Mutation_p.T538M|ATP2A1_ENST00000536376.1_Missense_Mutation_p.T413M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	538					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GTGCCACTGACGGGGCCGGTG	0.652																																						dbGAP											0													66.0	72.0	70.0					16																	28909621		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1613C>T	16.37:g.28909621C>T	ENSP00000349595:p.Thr538Met		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.T538M	ENST00000357084.3	37	c.1613	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686725	0.68157	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.85258	-1.96;-1.96;-1.96	5.43	5.43	0.79202	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.048556	0.85682	D	0.000000	D	0.94016	0.8083	M	0.93978	3.48	0.80722	D	1	D;D;D	0.58620	0.97;0.957;0.983	B;D;P	0.63283	0.428;0.913;0.802	D	0.95325	0.8424	10	0.87932	D	0	.	17.9902	0.89166	0.0:1.0:0.0:0.0	.	413;538;538	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	538;538;575;413	ENSP00000349595:T538M;ENSP00000378879:T538M;ENSP00000443101:T413M	ENSP00000349595:T538M	T	+	2	0	ATP2A1	28817122	1.000000	0.71417	0.242000	0.24170	0.290000	0.27261	7.717000	0.84732	2.533000	0.85409	0.655000	0.94253	ACG	ATP2A1	-	superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	52	0.00	0	C	NM_004320		28909621	28909621	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	43	46.25	37	SNP	1.000	T
B4GALNT1	2583	genome.wustl.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)								32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				-	-	-	SO:0001589	frameshift_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs		B4DE26|Q8N636	Frame_Shift_Ins	INS	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.L89fs	ENST00000341156.4	37	c.264_263	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	39	0.00	0	-	NM_001478		58025102	58025103	-1	no_errors	ENST00000341156	ensembl	human	known	69_37n	frame_shift_ins	63	11.27	8	INS	0.004:0.099	C
BCL9L	283149	genome.wustl.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																						dbGAP											0										27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				-	-	-	SO:0001589	frameshift_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P1128fs	ENST00000334801.3	37	c.3381_3380	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	49	0.00	0	-	NM_182557		118770651	118770652	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	frame_shift_ins	57	13.64	9	INS	0.988:0.996	G
C14orf180	400258	genome.wustl.edu	37	14	105054102	105054103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr14:105054102_105054103insC	ENST00000557649.1	+	3	464_465	c.128_129insC	c.(127-132)tgccccfs	p.CP43fs	C14orf180_ENST00000410013.1_Frame_Shift_Ins_p.CP43fs|RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000331952.2_Frame_Shift_Ins_p.CP43fs			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AACAGGAAGTGCCCCCCCTCCA	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.135dupC	14.37:g.105054109_105054109dupC	ENSP00000452502:p.Cys43fs			Frame_Shift_Ins	INS	NULL	p.S46fs	ENST00000557649.1	37	c.128_129	CCDS32166.1	14																																																																																			C14orf180	-	NULL	ENSG00000184601		0.703	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf180	HGNC	protein_coding	OTTHUMT00000410580.1	36	0.00	0	-	NM_001008404		105054102	105054103	+1	no_errors	ENST00000410013	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.035:0.048	C
CHRNB2	1141	genome.wustl.edu	37	1	154543819	154543819	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr1:154543819C>T	ENST00000368476.3	+	5	784	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	174					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CATGAAGTTCCGTTCGTGGAC	0.552																																						dbGAP											0													135.0	108.0	117.0					1																	154543819		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.520C>T	1.37:g.154543819C>T	ENSP00000357461:p.Arg174Cys		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R174C	ENST00000368476.3	37	c.520	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701995	0.68501	.	.	ENSG00000160716	ENST00000368476	T	0.79653	-1.29	4.38	4.38	0.52667	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91613	0.5304	10	0.87932	D	0	.	16.7273	0.85426	0.0:1.0:0.0:0.0	.	174	P17787	ACHB2_HUMAN	C	174	ENSP00000357461:R174C	ENSP00000357461:R174C	R	+	1	0	CHRNB2	152810443	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.068000	0.50018	2.238000	0.73509	0.563000	0.77884	CGT	CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000160716		0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	56	0.00	0	C	NM_000748		154543819	154543819	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	missense	74	22.92	22	SNP	1.000	T
CYP2D6	1565	genome.wustl.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs367543000|rs565013903	byFrequency	TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)cgafs	p.R269fs	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTCAGGTCTCGGGGGGGCTGG	0.629																																						dbGAP											0			GRCh37	CI994342	CYP2D6	I	rs72549352																																			-	-	-	SO:0001589	frameshift_variant	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.806dupC	22.37:g.42524220_42524220dupG	ENSP00000353820:p.Arg269fs		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R269fs	ENST00000360608.5	37	c.806_805	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.629	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	32	0.00	0	-			42524213	42524214	-1	no_errors	ENST00000360608	ensembl	human	known	69_37n	frame_shift_ins	29	14.71	5	INS	0.996:0.947	G
DENND4C	55667	genome.wustl.edu	37	9	19296154	19296154	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr9:19296154C>T	ENST00000380432.2	+	2	275	c.242C>T	c.(241-243)tCa>tTa	p.S81L	DENND4C_ENST00000434457.2_Missense_Mutation_p.S317L|DENND4C_ENST00000602925.1_Missense_Mutation_p.S317L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	81	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTTTACTCTCACACTGGCCT	0.378																																						dbGAP											0													162.0	150.0	154.0					9																	19296154		1838	4091	5929	-	-	-	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.242C>T	9.37:g.19296154C>T	ENSP00000369797:p.Ser81Leu		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S81L	ENST00000380432.2	37	c.242		9	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048618	0.93740	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	4.88	0.63580	DENN (3);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93240	0.6625	9	0.87932	D	0	-14.3436	18.2302	0.89933	0.0:1.0:0.0:0.0	.	81	Q5VZ89	DEN4C_HUMAN	L	81	.	ENSP00000369802:S81L	S	+	2	0	DENND4C	19286154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.593000	0.82686	2.529000	0.85273	0.591000	0.81541	TCA	DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000137145		0.378	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		83	0.00	0	C	NM_017925		19296154	19296154	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	missense	334	41.02	233	SNP	1.000	T
EGR1	1958	genome.wustl.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs			Frame_Shift_Ins	INS	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H333fs	ENST00000239938.4	37	c.993_994	CCDS4206.1	5																																																																																			EGR1	-	NULL	ENSG00000120738		0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	64	0.00	0	-	NM_001964		137803131	137803132	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	0.502:1.000	C
AGO1	26523	genome.wustl.edu	37	1	36381040	36381040	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr1:36381040A>G	ENST00000373204.4	+	15	2138	c.1925A>G	c.(1924-1926)tAc>tGc	p.Y642C	AGO1_ENST00000373206.1_Missense_Mutation_p.Y567C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	642	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GACTTGTCCTACATGGTGCGT	0.557																																						dbGAP											0													180.0	143.0	155.0					1																	36381040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1925A>G	1.37:g.36381040A>G	ENSP00000362300:p.Tyr642Cys		Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Y642C	ENST00000373204.4	37	c.1925	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538942	0.65085	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.29655	1.56;1.56	5.78	5.78	0.91487	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.29908	0.895	0.58432	D	0.999999	P	0.38223	0.623	P	0.53450	0.726	T	0.34925	-0.9809	10	0.87932	D	0	-16.688	16.3979	0.83621	1.0:0.0:0.0:0.0	.	642	Q9UL18	AGO1_HUMAN	C	567;642	ENSP00000362302:Y567C;ENSP00000362300:Y642C	ENSP00000362300:Y642C	Y	+	2	0	EIF2C1	36153627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.388000	0.52509	2.333000	0.79357	0.533000	0.62120	TAC	EIF2C1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000092847		0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	43	0.00	0	A			36381040	36381040	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	missense	163	37.88	100	SNP	1.000	G
ETV5	2119	genome.wustl.edu	37	3	185823093	185823093	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr3:185823093C>T	ENST00000306376.5	-	5	479		c.e5+1		ETV5_ENST00000434744.1_Splice_Site|ETV5_ENST00000537818.1_Splice_Site|DGKG_ENST00000447054.1_5'Flank	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5						cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AAGGTACTTACGGTTATCAGA	0.348			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													106.0	107.0	107.0					3																	185823093		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.232+1G>A	3.37:g.185823093C>T			A6NH46|B7Z7D7|Q6IBN5	Splice_Site	SNP	-	e5+1	ENST00000306376.5	37	c.358+1	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442945	0.63067	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8995	0.86109	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV5	187305787	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.857000	0.75455	2.786000	0.95864	0.563000	0.77884	.	ETV5	-	-	ENSG00000244405		0.348	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	84	0.00	0	C	NM_004454	Intron	185823093	185823093	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	splice_site	80	36.51	46	SNP	1.000	T
EYA1	2138	genome.wustl.edu	37	8	72211886	72211886	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr8:72211886T>C	ENST00000340726.3	-	8	1265	c.626A>G	c.(625-627)aAt>aGt	p.N209S	EYA1_ENST00000419131.1_Missense_Mutation_p.N204S|EYA1_ENST00000388740.3_Missense_Mutation_p.N176S|EYA1_ENST00000388742.4_Missense_Mutation_p.N209S|EYA1_ENST00000388741.2_Missense_Mutation_p.N175S|EYA1_ENST00000303824.7_Missense_Mutation_p.N203S|EYA1_ENST00000388743.2_Missense_Mutation_p.N208S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	209					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTGAACTATTAAATCCAGA	0.274																																						dbGAP											0													115.0	124.0	121.0					8																	72211886		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.626A>G	8.37:g.72211886T>C	ENSP00000342626:p.Asn209Ser		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.N209S	ENST00000340726.3	37	c.626	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	6.789	0.514583	0.12944	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	N	0.02721	-0.515	0.80722	D	1	D;B;B;D;B	0.76494	0.999;0.028;0.028;0.999;0.028	D;B;B;D;B	0.80764	0.991;0.013;0.03;0.994;0.044	T	0.76132	-0.3071	10	0.02654	T	1	-22.3562	15.9947	0.80232	0.0:0.0:0.0:1.0	.	203;136;176;209;204	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	209;209;177;176;203;175;208;204	ENSP00000373394:N209S;ENSP00000342626:N209S;ENSP00000373392:N176S;ENSP00000303221:N203S;ENSP00000373393:N175S;ENSP00000373395:N208S;ENSP00000410176:N204S	ENSP00000303221:N203S	N	-	2	0	EYA1	72374440	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.630000	0.83225	2.238000	0.73509	0.477000	0.44152	AAT	EYA1	-	NULL	ENSG00000104313		0.274	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	90	0.00	0	T	NM_000503, NM_172060		72211886	72211886	-1	no_errors	ENST00000340726	ensembl	human	known	69_37n	missense	329	40.83	227	SNP	1.000	C
FANCF	2188	genome.wustl.edu	37	11	22646798	22646798	+	Missense_Mutation	SNP	T	T	A	rs540547787	byFrequency	TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr11:22646798T>A	ENST00000327470.3	-	1	589	c.559A>T	c.(559-561)Agg>Tgg	p.R187W	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	187					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CTGAGAAACCTGGCGGGACGC	0.622			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP	yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	0													58.0	69.0	65.0					11																	22646798		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.559A>T	11.37:g.22646798T>A	ENSP00000330875:p.Arg187Trp	757	Q52LM0	Missense_Mutation	SNP	NULL	p.R187W	ENST00000327470.3	37	c.559	CCDS7857.1	11	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771127	0.69992	.	.	ENSG00000183161	ENST00000327470	T	0.34275	1.37	4.87	-9.74	0.00509	.	0.603229	0.16630	N	0.206106	T	0.20007	0.0481	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08146	-1.0736	10	0.66056	D	0.02	-1.7379	3.9593	0.09404	0.1963:0.3825:0.3093:0.112	.	187	Q9NPI8	FANCF_HUMAN	W	187	ENSP00000330875:R187W	ENSP00000330875:R187W	R	-	1	2	FANCF	22603374	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.969000	0.01506	-2.272000	0.00682	0.459000	0.35465	AGG	FANCF	-	NULL	ENSG00000183161		0.622	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	20	0.00	0	T	NM_022725		22646798	22646798	-1	no_errors	ENST00000327470	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.000	A
FLCN	201163	genome.wustl.edu	37	17	17119708	17119709	+	Frame_Shift_Ins	INS	-	-	G	rs80338683|rs80338682|rs375082054		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr17:17119708_17119709insG	ENST00000285071.4	-	11	1739_1740	c.1285_1286insC	c.(1285-1287)cacfs	p.H429fs	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	429			H -> Y (in PSP). {ECO:0000269|PubMed:18505456}.		cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGAGCACGTGGGGGGGGATC	0.663									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													dbGAP											0			GRCh37	CD023282|CI023308|CM082680	FLCN	D|I|M	rs80338682|rs80338683			25,4239		0,25,2107				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.9	1.0		dbSNP_131	61	16,8238		0,16,4111	no	frameshift	FLCN	NM_144997.5		0,41,6218	A1A1,A1R,RR		0.1938,0.5863,0.3275				41,12477				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1286dupC	17.37:g.17119716_17119716dupG	ENSP00000285071:p.His429fs		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Frame_Shift_Ins	INS	pfam_Folliculin	p.H429fs	ENST00000285071.4	37	c.1286_1285	CCDS32579.1	17																																																																																			FLCN	-	NULL	ENSG00000154803		0.663	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	54	0.00	0	-	NM_144606		17119708	17119709	-1	no_errors	ENST00000285071	ensembl	human	known	69_37n	frame_shift_ins	13	23.53	4	INS	1.000:1.000	G
ILF3	3609	genome.wustl.edu	37	19	10792682	10792683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr19:10792682_10792683insC	ENST00000590261.1	+	11	1194_1195	c.1194_1195insC	c.(1195-1197)cccfs	p.P399fs	ILF3_ENST00000318511.3_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000250241.8_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000420083.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000588657.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000407004.3_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000589998.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000449870.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000592763.1_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	39	0.00	0	-			10792682	10792683	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:1.000	C
IRS4	8471	genome.wustl.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						dbGAP											0										32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				-	-	-	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs			Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	106	0.00	0	-	NM_003604		107977802	107977803	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	frame_shift_ins	53	14.52	9	INS	0.031:0.016	C
KIAA1210	57481	genome.wustl.edu	37	X	118230488	118230488	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chrX:118230488G>C	ENST00000402510.2	-	8	1234	c.1235C>G	c.(1234-1236)cCc>cGc	p.P412R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	412										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGTTTGCGGGGATTTAAAGT	0.468																																						dbGAP											0													88.0	80.0	82.0					X																	118230488		1916	4114	6030	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1235C>G	X.37:g.118230488G>C	ENSP00000384670:p.Pro412Arg		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P412R	ENST00000402510.2	37	c.1235	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508391	0.44660	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.15952	2.38	4.75	2.97	0.34412	.	.	.	.	.	T	0.21550	0.0519	N	0.14661	0.345	0.20307	N	0.999914	D	0.89917	1.0	D	0.79108	0.992	T	0.09271	-1.0682	9	0.66056	D	0.02	.	6.8112	0.23805	0.228:0.0:0.772:0.0	.	412	Q9ULL0	K1210_HUMAN	R	412;248	ENSP00000384670:P412R	ENSP00000396164:P248R	P	-	2	0	RP13-347D8.5;RP13-347D8.6	118114516	0.974000	0.33945	0.073000	0.20177	0.877000	0.50540	2.381000	0.44336	0.508000	0.28173	0.594000	0.82650	CCC	KIAA1210	-	NULL	ENSG00000250423		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	102	0.00	0	G	NM_020721		118230488	118230488	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	164	68.08	354	SNP	0.319	C
KIAA1211	57482	genome.wustl.edu	37	4	57180616	57180616	+	Silent	SNP	G	G	A	rs11723379	byFrequency	TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr4:57180616G>A	ENST00000504228.1	+	6	1053	c.948G>A	c.(946-948)gcG>gcA	p.A316A	KIAA1211_ENST00000264229.6_Silent_p.A316A|KIAA1211_ENST00000541073.1_Silent_p.A309A			Q6ZU35	K1211_HUMAN	KIAA1211	316	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCTGGAGGCGGAGGAGGAGC	0.741																																						dbGAP											0													5.0	7.0	6.0					4																	57180616		1912	3838	5750	-	-	-	SO:0001819	synonymous_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.948G>A	4.37:g.57180616G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.A316	ENST00000504228.1	37	c.948	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.741	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	36	0.00	0	G	NM_020722		57180616	57180616	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	silent	8	76.47	26	SNP	0.000	A
LOXL3	84695	genome.wustl.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.G275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.825dupG	2.37:g.74763931_74763931dupC	ENSP00000264094:p.Gly275fs		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Ins	INS	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.A277fs	ENST00000264094.3	37	c.825_824	CCDS1953.1	2																																																																																			LOXL3	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000115318		0.649	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	55	0.00	0	-	NM_032603		74763923	74763924	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	frame_shift_ins	99	12.39	14	INS	0.118:0.001	C
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																						dbGAP											2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				-	-	-	SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	46	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	105	11.02	13	INS	0.999:1.000	C
MBOAT1	154141	genome.wustl.edu	37	6	20152998	20152998	+	Silent	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr6:20152998C>T	ENST00000324607.7	-	2	266	c.102G>A	c.(100-102)gtG>gtA	p.V34V	MBOAT1_ENST00000536798.1_Silent_p.V34V|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	34					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCACAAAATTCACCTGTGGCA	0.433																																						dbGAP											0													75.0	75.0	75.0					6																	20152998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.102G>A	6.37:g.20152998C>T			A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	pfam_MBOAT_fam	p.V34	ENST00000324607.7	37	c.102	CCDS34346.1	6																																																																																			MBOAT1	-	NULL	ENSG00000172197		0.433	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	118	0.00	0	C			20152998	20152998	-1	no_errors	ENST00000324607	ensembl	human	known	69_37n	silent	174	40.68	120	SNP	1.000	T
ELMO3	79767	genome.wustl.edu	37	16	67236285	67236286	+	Intron	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr16:67236285_67236286insC	ENST00000360833.1	+	13	1426				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Intron|ELMO3_ENST00000393997.2_Intron			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3						apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGCCCCTCCTGCCCCCCCACTC	0.629																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1370-14->C	16.37:g.67236292_67236292dupC			B4DV86|Q9H8A5	RNA	INS	-	NULL	ENST00000360833.1	37	NULL		16																																																																																			MIR328	-	-	ENSG00000207948		0.629	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	MIR328	HGNC	protein_coding	OTTHUMT00000257667.2	37	0.00	0	-	NM_024712		67236285	67236286	-1	no_errors	ENST00000385213	ensembl	human	known	69_37n	rna	6	33.33	3	INS	1.000:1.000	C
NCR2	9436	genome.wustl.edu	37	6	41318437	41318437	+	Silent	SNP	C	C	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr6:41318437C>G	ENST00000373089.5	+	5	754	c.666C>G	c.(664-666)acC>acG	p.T222T	NCR2_ENST00000373083.4_Missense_Mutation_p.P258R|NCR2_ENST00000373086.3_Missense_Mutation_p.P270R	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	222					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGTGGAAAACCATGATGGAGC	0.542																																						dbGAP											0													122.0	117.0	119.0					6																	41318437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.666C>G	6.37:g.41318437C>G			Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.P270R	ENST00000373089.5	37	c.809	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	9.418	1.082363	0.20309	.	.	ENSG00000096264	ENST00000373083;ENST00000373086	T;T	0.21031	2.16;2.03	2.04	-2.16	0.07080	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.19666	0.026;0.026	T	0.41574	-0.9501	8	0.87932	D	0	.	3.3495	0.07147	0.0:0.3295:0.2168:0.4537	.	258;270	O95944-3;O95944-2	.;.	R	258;270	ENSP00000362175:P258R;ENSP00000362178:P270R	ENSP00000362175:P258R	P	+	2	0	NCR2	41426415	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.129000	0.15830	-0.717000	0.04955	-0.793000	0.03317	CCA	NCR2	-	NULL	ENSG00000096264		0.542	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	77	0.00	0	C			41318437	41318437	+1	no_errors	ENST00000373086	ensembl	human	known	69_37n	missense	83	41.96	60	SNP	0.001	G
NIPAL1	152519	genome.wustl.edu	37	4	48037625	48037625	+	Silent	SNP	G	G	A			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr4:48037625G>A	ENST00000295461.5	+	6	735	c.669G>A	c.(667-669)ctG>ctA	p.L223L	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	223						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CCTTGGTGCTGATTTTGATTG	0.378																																						dbGAP											0													118.0	119.0	119.0					4																	48037625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.669G>A	4.37:g.48037625G>A			B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.L223	ENST00000295461.5	37	c.669	CCDS3479.1	4																																																																																			NIPAL1	-	pfam_Mg_trans_NIPA	ENSG00000163293		0.378	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	41	0.00	0	G	NM_207330		48037625	48037625	+1	no_errors	ENST00000295461	ensembl	human	known	69_37n	silent	56	64.33	101	SNP	1.000	A
MPG	4350	genome.wustl.edu	37	16	136809	136809	+	IGR	SNP	C	C	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr16:136809C>G	ENST00000219431.4	+	0	1193				NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399953.3_Silent_p.T534T|NPRL3_ENST00000399951.3_Silent_p.T355T	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.T534T(2)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GGGAGCGCCGCGTGTTCTCGT	0.612								Base excision repair (BER), DNA glycosylases																														dbGAP											2	Substitution - coding silent(2)	endometrium(2)											52.0	61.0	58.0					16																	136809		2129	4242	6371	-	-	-	SO:0001628	intergenic_variant	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.136809C>G			G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	pfam_NPR3,superfamily_Galactose-bd-like	p.T534	ENST00000219431.4	37	c.1602	CCDS32346.1	16																																																																																			NPRL3	-	NULL	ENSG00000103148		0.612	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPRL3	HGNC	protein_coding	OTTHUMT00000109121.4	64	0.00	0	C			136809	136809	-1	no_errors	ENST00000399953	ensembl	human	known	69_37n	silent	19	52.50	21	SNP	0.340	G
NRXN2	9379	genome.wustl.edu	37	11	64457918	64457919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr11:64457918_64457919insC	ENST00000377551.1	-	4	1019_1020	c.808_809insG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTCG	0.634																																						dbGAP											1	Insertion - Frameshift(1)	central_nervous_system(1)							,	56,4208		0,56,2076					,	4.6	1.0			37	73,8181		0,73,4054	no	intron,frameshift	NRXN2	NM_138732.2,NM_015080.3	,	0,129,6130	A1A1,A1R,RR		0.8844,1.3133,1.0305	,	,		129,12389				-	-	-	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809dupG	11.37:g.64457926_64457926dupC	ENSP00000366774:p.Ala270fs		A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.809_808	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.634	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	65	0.00	0	-	NM_015080		64457918	64457919	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	frame_shift_ins	187	12.21	26	INS	1.000:1.000	C
P4HTM	54681	genome.wustl.edu	37	3	49043192	49043193	+	Intron	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr3:49043192_49043193insC	ENST00000383729.4	+	7	1444				WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Frame_Shift_Ins_p.P414fs|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)	p.L416fs*6(1)|p.L416fs*28(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTGCTCAGTGCCCCCCCTGCC	0.554																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|ovary(1)																																								-	-	-	SO:0001627	intron_variant	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1074-17->C	3.37:g.49043199_49043199dupC			Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Frame_Shift_Ins	INS	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L415fs	ENST00000383729.4	37	c.1239_1240	CCDS43089.1	3																																																																																			P4HTM	-	smart_Pro_4_hyd_alph	ENSG00000178467		0.554	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	59	0.00	0	-	NM_177938		49043192	49043193	+1	no_errors	ENST00000343546	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.017:0.124	C
PABPC1	26986	genome.wustl.edu	37	8	101730036	101730037	+	Frame_Shift_Ins	INS	-	-	C	rs545344384	byFrequency	TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr8:101730036_101730037insC	ENST00000318607.5	-	3	1595_1596	c.467_468insG	c.(466-468)gaafs	p.E156fs	PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTCATTTTTTCAATAGCTCT	0.337													-|-|C|insertion	726	0.144968	0.2133	0.1124	5008	,	,		20837	0.0764		0.0825	False		,,,				2504	0.2106					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.467_468insG	8.37:g.101730036_101730037insC	ENSP00000313007:p.Glu156fs		Q15097|Q93004	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.M158fs	ENST00000318607.5	37	c.468_467	CCDS6289.1	8																																																																																			PABPC1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000070756		0.337	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	45	0.00	0	-	NM_002568		101730036	101730037	-1	no_errors	ENST00000318607	ensembl	human	known	69_37n	frame_shift_ins	134	14.10	22	INS	1.000:1.000	C
PLEKHG2	64857	genome.wustl.edu	37	19	39908303	39908303	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr19:39908303C>T	ENST00000409794.3	+	8	1703	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R285C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R285C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R285C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R226C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	285					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGACATGAAGCGCAAGCAGGA	0.667																																						dbGAP											0													57.0	50.0	53.0					19																	39908303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.853C>T	19.37:g.39908303C>T	ENSP00000386733:p.Arg285Cys		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R285C	ENST00000409794.3	37	c.853	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115010	0.77210	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	4.68	3.57	0.40892	Dbl homology (DH) domain (2);	0.000000	0.64402	D	0.000001	T	0.80783	0.4689	M	0.68952	2.095	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;0.999;1.0	T	0.82129	-0.0610	10	0.87932	D	0	.	11.8934	0.52644	0.2585:0.7415:0.0:0.0	.	285;285;226;285	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	285;285;285;226;285	ENSP00000386733:R285C;ENSP00000392906:R285C;ENSP00000367812:R285C;ENSP00000408857:R226C;ENSP00000386492:R285C	ENSP00000367812:R285C	R	+	1	0	PLEKHG2	44600143	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.410000	0.52664	2.609000	0.88269	0.561000	0.74099	CGC	PLEKHG2	-	superfamily_DH-domain	ENSG00000090924		0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	37	0.00	0	C	NM_022835		39908303	39908303	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	T
PROZ	8858	genome.wustl.edu	37	13	113814455	113814455	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr13:113814455A>C	ENST00000375547.2	+	2	205	c.198A>C	c.(196-198)gaA>gaC	p.E66D	PROZ_ENST00000342783.4_Missense_Mutation_p.E88D	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	66	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTGTCTATGAAGAAGCAAGAG	0.463																																						dbGAP											0													115.0	119.0	118.0					13																	113814455		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.198A>C	13.37:g.113814455A>C	ENSP00000364697:p.Glu66Asp		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Peptidase_S1_S6,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.E66D	ENST00000375547.2	37	c.198	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084821	0.36758	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.99905	-7.72;-7.72	4.0	0.911	0.19343	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.054301	0.64402	U	0.000001	D	0.99871	0.9939	M	0.87097	2.86	0.47737	D	0.999502	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98446	1.0589	10	0.87932	D	0	.	7.1716	0.25722	0.5782:0.0:0.4218:0.0	.	88;66	P22891-2;P22891	.;PROZ_HUMAN	D	66;88	ENSP00000364697:E66D;ENSP00000344458:E88D	ENSP00000344458:E88D	E	+	3	2	PROZ	112862456	1.000000	0.71417	0.851000	0.33527	0.181000	0.23173	1.074000	0.30703	-0.111000	0.12001	0.260000	0.18958	GAA	PROZ	-	pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	ENSG00000126231		0.463	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	HGNC	protein_coding	OTTHUMT00000045845.1	57	0.00	0	A	NM_003891		113814455	113814455	+1	no_errors	ENST00000375547	ensembl	human	known	69_37n	missense	12	61.29	19	SNP	0.996	C
PRRC2B	84726	genome.wustl.edu	37	9	134350786	134350787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr9:134350786_134350787insG	ENST00000357304.4	+	15	3325_3326	c.3270_3271insG	c.(3271-3273)gggfs	p.G1091fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1091							poly(A) RNA binding (GO:0044822)	p.V1093fs*41(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCTCTGTGGTGGGGGGGTCCT	0.698																																						dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3277dupG	9.37:g.134350793_134350793dupG	ENSP00000349856:p.Gly1091fs		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Ins	INS	pfam_BAT2_N	p.V1092fs	ENST00000357304.4	37	c.3270_3271	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.698	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		9	0.00	0	-			134350786	134350787	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.162	G
PTK2B	2185	genome.wustl.edu	37	8	27315867	27315867	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr8:27315867G>A	ENST00000397501.1	+	36	3679	c.2871G>A	c.(2869-2871)atG>atA	p.M957I	PTK2B_ENST00000346049.5_Missense_Mutation_p.M957I|PTK2B_ENST00000517339.1_Missense_Mutation_p.M915I|PTK2B_ENST00000338238.4_Missense_Mutation_p.M915I|PTK2B_ENST00000544172.1_Missense_Mutation_p.M957I|PTK2B_ENST00000420218.2_Missense_Mutation_p.M915I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	957	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCAACAAGATGCGGCTGGCAC	0.562																																						dbGAP											0													75.0	55.0	62.0					8																	27315867		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2871G>A	8.37:g.27315867G>A	ENSP00000380638:p.Met957Ile		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M957I	ENST00000397501.1	37	c.2871	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839930	0.91117	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	4.91	4.91	0.64330	Focal adhesion kinase, targeting (FAT) domain (3);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.965;0.999	T	0.72839	-0.4171	10	0.87932	D	0	.	15.6329	0.76926	0.0:0.0:1.0:0.0	.	915;957	Q14289-2;Q14289	.;FAK2_HUMAN	I	957;915;957;957;915;915	ENSP00000380638:M957I;ENSP00000342242:M915I;ENSP00000440926:M957I;ENSP00000332816:M957I;ENSP00000391995:M915I;ENSP00000427931:M915I	ENSP00000342242:M915I	M	+	3	0	PTK2B	27371784	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	9.657000	0.98554	2.532000	0.85374	0.563000	0.77884	ATG	PTK2B	-	pfam_Focal_adhesion_kin_target_dom,superfamily_Focal_adhesion_kin_target_dom	ENSG00000120899		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	31	0.00	0	G	NM_004103		27315867	27315867	+1	no_errors	ENST00000346049	ensembl	human	known	69_37n	missense	38	37.70	23	SNP	1.000	A
QPCT	25797	genome.wustl.edu	37	2	37586965	37586966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr2:37586965_37586966insG	ENST00000338415.3	+	3	668_669	c.510_511insG	c.(511-513)gctfs	p.A171fs	QPCT_ENST00000537448.1_Frame_Shift_Ins_p.A122fs	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	171					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TGTTGGAACTTGCTCGTGCCTT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.511dupG	2.37:g.37586966_37586966dupG	ENSP00000344829:p.Ala171fs		Q16770|Q3KRG6|Q53TR4	Frame_Shift_Ins	INS	pfam_Peptidase_M28	p.A170fs	ENST00000338415.3	37	c.510_511	CCDS1790.1	2																																																																																			QPCT	-	pfam_Peptidase_M28	ENSG00000115828		0.421	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2	39	0.00	0	-			37586965	37586966	+1	no_errors	ENST00000338415	ensembl	human	known	69_37n	frame_shift_ins	111	38.33	69	INS	0.561:1.000	G
RBM47	54502	genome.wustl.edu	37	4	40440780	40440781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr4:40440780_40440781insA	ENST00000381793.2	-	3	526_527	c.130_131insT	c.(130-132)tacfs	p.Y44fs	RBM47_ENST00000319592.4_Frame_Shift_Ins_p.Y44fs|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.Y6fs|RBM47_ENST00000295971.7_Frame_Shift_Ins_p.Y44fs|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Frame_Shift_Ins_p.Y44fs			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	44					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACCATGCTGTAGCCCGTGCGC	0.733																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.131dupT	4.37:g.40440781_40440781dupA	ENSP00000371212:p.Tyr44fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Y44fs	ENST00000381793.2	37	c.131_130	CCDS43223.1	4																																																																																			RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.733	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	10	0.00	0	-	NM_019027		40440780	40440781	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	frame_shift_ins	0	100.00	5	INS	1.000:1.000	A
RPS9	6203	genome.wustl.edu	37	19	54710423	54710424	+	Intron	INS	-	-	TT			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr19:54710423_54710424insTT	ENST00000302907.4	+	4	579				RPS9_ENST00000391751.3_Intron|RPS9_ENST00000402367.1_Frame_Shift_Ins_p.R138fs|RPS9_ENST00000391753.2_Intron|RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000391752.1_Intron	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTATGCAGCCCTCGGAGGTGAT	0.594																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.407+93->TT	19.37:g.54710423_54710424insTT			A9C4C1|Q4QRK7|Q9BVZ0	Frame_Shift_Ins	INS	pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc	p.R138fs	ENST00000302907.4	37	c.410_411	CCDS12884.1	19																																																																																			RPS9	-	NULL	ENSG00000170889		0.594	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS9	HGNC	protein_coding	OTTHUMT00000142834.3	15	0.00	0	-	NM_001013		54710423	54710424	+1	no_errors	ENST00000436445	ensembl	human	known	69_37n	frame_shift_ins	33	23.26	10	INS	0.940:0.759	TT
RYR3	6263	genome.wustl.edu	37	15	34151902	34151902	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr15:34151902G>A	ENST00000389232.4	+	100	14339	c.14269G>A	c.(14269-14271)Gtc>Atc	p.V4757I	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.V4752I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4757					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCTTCTTCGTCATTGTCAT	0.398																																						dbGAP											0													232.0	227.0	229.0					15																	34151902		2019	4194	6213	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14269G>A	15.37:g.34151902G>A	ENSP00000373884:p.Val4757Ile		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V4757I	ENST00000389232.4	37	c.14269	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497011	0.85069	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98531	-4.98	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	L	0.38175	1.15	0.49798	D	0.999822	D;D	0.76494	0.993;0.999	P;D	0.83275	0.865;0.996	D	0.98501	1.0614	10	0.46703	T	0.11	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	4752;4757	Q15413-2;Q15413	.;RYR3_HUMAN	I	4757;4753	ENSP00000373884:V4757I	ENSP00000354735:V4753I	V	+	1	0	RYR3	31939194	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.655000	0.83696	2.884000	0.98904	0.655000	0.94253	GTC	RYR3	-	pfam_Ion_trans_dom	ENSG00000198838		0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	196	0.00	0	G			34151902	34151902	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	274	63.56	478	SNP	1.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56630189	56630189	+	Silent	SNP	A	A	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr12:56630189A>C	ENST00000266980.4	+	7	1248	c.955A>C	c.(955-957)Agg>Cgg	p.R319R	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.R319R	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	319					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGATGCTGCAGGCGAAAACG	0.577																																						dbGAP											0													109.0	104.0	105.0					12																	56630189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.955A>C	12.37:g.56630189A>C			B2R808|Q8N6Y3	Silent	SNP	pfam_ZIP	p.R319	ENST00000266980.4	37	c.955	CCDS8912.2	12																																																																																			SLC39A5	-	pfam_ZIP	ENSG00000139540		0.577	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	70	0.00	0	A	NM_173596		56630189	56630189	+1	no_errors	ENST00000266980	ensembl	human	known	69_37n	silent	16	69.23	36	SNP	0.875	C
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	95	0.00	0	T	NM_000546		7578190	7578190	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	180	68.52	394	SNP	0.998	C
USP35	57558	genome.wustl.edu	37	11	77920855	77920856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr11:77920855_77920856insC	ENST00000529308.1	+	10	2215_2216	c.1954_1955insC	c.(1954-1956)accfs	p.T652fs	USP35_ENST00000526425.1_Frame_Shift_Ins_p.T383fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Frame_Shift_Ins_p.T238fs|USP35_ENST00000530267.1_Frame_Shift_Ins_p.T220fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	652	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CACAGAGGACACCCCCCCCACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1962dupC	11.37:g.77920863_77920863dupC	ENSP00000431876:p.Thr652fs			Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.T655fs	ENST00000529308.1	37	c.1954_1955	CCDS41693.1	11																																																																																			USP35	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000118369		0.609	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	138	0.00	0	-	XM_290527		77920855	77920856	+1	no_errors	ENST00000529308	ensembl	human	known	69_37n	frame_shift_ins	414	11.91	56	INS	0.000:0.000	C
WASL	8976	genome.wustl.edu	37	7	123335910	123335910	+	Silent	SNP	T	T	C			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr7:123335910T>C	ENST00000223023.4	-	7	971	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	213	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACCAACATGTCCAATGTGCC	0.308																																						dbGAP											0													75.0	74.0	74.0					7																	123335910		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.639A>G	7.37:g.123335910T>C			A1JUI9|Q7Z746	Silent	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.G213	ENST00000223023.4	37	c.639	CCDS34743.1	7																																																																																			WASL	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	ENSG00000106299		0.308	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	69	0.00	0	T	NM_003941		123335910	123335910	-1	no_errors	ENST00000223023	ensembl	human	known	69_37n	silent	138	35.51	76	SNP	1.000	C
ZMYM3	9203	genome.wustl.edu	37	X	70472962	70472963	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chrX:70472962_70472963insG	ENST00000353904.2	-	2	330_331	c.143_144insC	c.(142-144)cctfs	p.P48fs	ZMYM3_ENST00000373998.1_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P48fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P48P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGAAGGGCCAGGGGGGGCCCA	0.609											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.144dupC	X.37:g.70472969_70472969dupG	ENSP00000343909:p.Pro48fs	1122	D3DVV3|O15089|Q96E26	Frame_Shift_Ins	INS	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.G49fs	ENST00000353904.2	37	c.144_143	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.609	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	30	0.00	0	-	NM_201599		70472962	70472963	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	frame_shift_ins	30	11.76	4	INS	0.994:1.000	G
ZNF641	121274	genome.wustl.edu	37	12	48741042	48741043	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr12:48741042_48741043insCG	ENST00000544117.2	-	3	1018_1019	c.310_311insCG	c.(310-312)ggafs	p.G104fs	ZNF641_ENST00000301042.3_Frame_Shift_Ins_p.G104fs|ZNF641_ENST00000448928.3_Frame_Shift_Ins_p.G90fs|ZNF641_ENST00000547026.1_Frame_Shift_Ins_p.G90fs			Q96N77	ZN641_HUMAN	zinc finger protein 641	104					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CACCTGTGATCCAGCCGCAAGA	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.310_311insCG	12.37:g.48741042_48741043insCG	ENSP00000437832:p.Gly104fs		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G104fs	ENST00000544117.2	37	c.311_310	CCDS8763.1	12																																																																																			ZNF641	-	superfamily_Krueppel-associated_box	ENSG00000167528		0.554	ZNF641-001	KNOWN	basic|CCDS	protein_coding	ZNF641	HGNC	protein_coding	OTTHUMT00000406518.1	49	0.00	0	-	NM_152320		48741042	48741043	-1	no_errors	ENST00000301042	ensembl	human	known	69_37n	frame_shift_ins	6	72.73	16	INS	1.000:0.984	CG
ZNF773	374928	genome.wustl.edu	37	19	58017763	58017763	+	Silent	SNP	G	G	A			TCGA-A2-A0T2-01A-11W-A097-09	TCGA-A2-A0T2-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c7918143-dbce-45b3-8d24-2993a9e2b7f4	5b5581e0-8d87-47db-a789-bc943c4cd6e9	g.chr19:58017763G>A	ENST00000282292.4	+	4	440	c.300G>A	c.(298-300)gaG>gaA	p.E100E	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.E99E|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGCTGCTGAGCAGAGTGCTT	0.493																																						dbGAP											0													87.0	90.0	89.0					19																	58017763		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.300G>A	19.37:g.58017763G>A			Q96DL8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E100	ENST00000282292.4	37	c.300	CCDS33134.1	19																																																																																			ZNF773	-	NULL	ENSG00000152439		0.493	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	67	0.00	0	G	NM_198542		58017763	58017763	+1	no_errors	ENST00000282292	ensembl	human	known	69_37n	silent	199	39.76	132	SNP	0.050	A
