#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
GAD2	2572	genome.wustl.edu	37	10	26505740	26505740	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr10:26505740T>C	ENST00000376261.3	+	1	505	c.2T>C	c.(1-3)aTg>aCg	p.M1T	GAD2_ENST00000259271.3_Start_Codon_SNP_p.M1T|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	1					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAAAGCCGATGGCATCTCCG	0.682													ENSG00000136750																																					0													58.0	60.0	59.0					10																	26505740		2203	4300	6503	SO:0001582	initiator_codon_variant	0			-	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.2T>C	10.37:g.26505740T>C	ENSP00000365437:p.Met1Thr		Q9UD87	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.M1T	ENST00000376261.3	37	c.2	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733103	0.48939	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.69685	-0.42;-0.42;-0.42	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000016	T	0.80752	0.4683	.	.	.	0.80722	D	1	D;P	0.57899	0.981;0.717	D;P	0.69142	0.962;0.599	D	0.83575	0.0114	9	0.87932	D	0	-18.0697	13.5727	0.61856	0.0:0.0:0.0:1.0	.	1;1	Q4G154;Q05329	.;DCE2_HUMAN	T	1	ENSP00000365437:M1T;ENSP00000259271:M1T;ENSP00000390434:M1T	ENSP00000259271:M1T	M	+	2	0	GAD2	26545746	1.000000	0.71417	0.985000	0.45067	0.753000	0.42808	4.724000	0.61972	1.852000	0.53769	0.374000	0.22700	ATG	-	GAD2	-	NULL		0.682	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1	0	0	0	33	33	43	0.00	0.00	T	NM_000818	Missense_Mutation	26505740	+1	17	20	27	19	tier1	no_errors	ENST00000259271	ensembl	human	known	74_37	missense	38.64	51.28	SNP	1.000	C	17	27
SPEF2	79925	genome.wustl.edu	37	5	35789750	35789750	+	Intron	SNP	G	G	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:35789750G>T	ENST00000356031.3	+	31	4601				CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Intron|SPEF2_ENST00000303129.4_Missense_Mutation_p.V158L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCCAAAATGTGGTGAGGGC	0.403													ENSG00000152582																																					0																																										SO:0001627	intron_variant	0			-	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4448-2692G>T	5.37:g.35789750G>T			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_HATC_dom_C,superfamily_RNaseH-like_dom	p.V158L	ENST00000356031.3	37	c.472	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968232	0.74131	.	.	ENSG00000152582	ENST00000303129	T	0.41758	0.99	5.76	5.76	0.90799	.	.	.	.	.	T	0.51787	0.1695	.	.	.	0.26028	N	0.981782	D	0.89917	1.0	D	0.83275	0.996	T	0.45175	-0.9279	8	0.06365	T	0.9	.	16.8981	0.86106	0.0:0.0:1.0:0.0	.	158	Q9C093-4	.	L	158	ENSP00000303843:V158L	ENSP00000303843:V158L	V	+	1	0	SPEF2	35825507	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.517000	0.60503	2.726000	0.93360	0.655000	0.94253	GTG	-	SPEF2	-	NULL		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	0	0	0	47	47	128	0.00	0.00	G	NM_144722		35789750	+1	34	65	41	66	tier1	no_errors	ENST00000303129	ensembl	human	known	74_37	missense	45.33	49.62	SNP	1.000	T	34	41
RBAK	57786	genome.wustl.edu	37	7	5104323	5104323	+	Silent	SNP	A	A	G			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr7:5104323A>G	ENST00000353796.3	+	6	1560	c.1236A>G	c.(1234-1236)cgA>cgG	p.R412R	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Silent_p.R412R	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	412					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCTACTACCGAAAGTCTACTC	0.458													ENSG00000146587																																					0													61.0	59.0	60.0					7																	5104323		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1236A>G	7.37:g.5104323A>G			A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	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.R412	ENST00000353796.3	37	c.1236	CCDS5337.1	7																																																																																			-	RBAK	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	0	0	0	37	37	115	0.00	0.00	A	NM_021163		5104323	+1	16	21	24	39	tier1	no_errors	ENST00000353796	ensembl	human	known	74_37	silent	40.00	35.00	SNP	0.009	G	16	24
KHK	3795	genome.wustl.edu	37	2	27322146	27322146	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr2:27322146G>C	ENST00000260599.6	+	6	1160	c.647G>C	c.(646-648)aGg>aCg	p.R216T	CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.R216T|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	216					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCGTGTGAGGAAAGGGTGA	0.597													ENSG00000138030																																					0													82.0	84.0	84.0					2																	27322146		2203	4300	6503	SO:0001583	missense	0			-		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.647G>C	2.37:g.27322146G>C	ENSP00000260599:p.Arg216Thr		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB_dom	p.R216T	ENST00000260599.6	37	c.647	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347444	0.41599	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.75704	-0.96;-0.96;-0.13	5.34	4.2	0.49525	Carbohydrate/purine kinase (1);	0.187786	0.56097	D	0.000032	T	0.71904	0.3395	L	0.53561	1.675	0.80722	D	1	B;P;B;P	0.41643	0.053;0.758;0.011;0.758	B;P;B;P	0.45558	0.052;0.485;0.007;0.485	T	0.68868	-0.5295	10	0.39692	T	0.17	-24.1695	9.5896	0.39537	0.133:0.0:0.867:0.0	.	216;216;216;216	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	216;216;261	ENSP00000260599:R216T;ENSP00000260598:R216T;ENSP00000404741:R261T	ENSP00000260598:R216T	R	+	2	0	KHK	27175650	1.000000	0.71417	0.997000	0.53966	0.590000	0.36582	3.684000	0.54671	0.891000	0.36235	0.462000	0.41574	AGG	-	KHK	-	pfam_PfkB_dom		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	0	0	0	104	104	58	0.00	0.00	G			27322146	+1	24	22	111	38	tier1	no_errors	ENST00000260598	ensembl	human	known	74_37	missense	17.78	36.67	SNP	1.000	C	24	111
GART	2618	genome.wustl.edu	37	21	34883664	34883664	+	Missense_Mutation	SNP	C	C	T	rs372288271		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr21:34883664C>T	ENST00000381831.3	-	17	2472	c.2209G>A	c.(2209-2211)Gct>Act	p.A737T	GART_ENST00000543717.1_Missense_Mutation_p.A289T|GART_ENST00000381839.3_Missense_Mutation_p.A737T|GART_ENST00000381815.4_Missense_Mutation_p.A737T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	737	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACAAGGACAGCGCCAACCCCA	0.547													ENSG00000159131																																					0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	244.0	233.0	237.0		2209,2209,2209	5.4	1.0	21		237	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GART	NM_000819.4,NM_001136005.1,NM_001136006.1	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	737/1011,737/1011,737/1011	34883664	1,13005	2203	4300	6503	SO:0001583	missense	0			-	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2209G>A	21.37:g.34883664C>T	ENSP00000371253:p.Ala737Thr		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.A737T	ENST00000381831.3	37	c.2209	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026689	0.93518	0.0	1.16E-4	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.44	5.44	0.79542	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.57341	-0.7828	10	0.48119	T	0.1	-20.3578	19.2675	0.93996	0.0:1.0:0.0:0.0	.	737	P22102	PUR2_HUMAN	T	1;737;737;737;289	ENSP00000371236:A737T;ENSP00000371253:A737T;ENSP00000371261:A737T;ENSP00000443579:A289T	ENSP00000371236:A737T	A	-	1	0	GART	33805534	1.000000	0.71417	0.995000	0.50966	0.677000	0.39632	7.270000	0.78493	2.573000	0.86826	0.655000	0.94253	GCT	-	GART	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase		0.547	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	0	0	0	107	107	112	0.00	0.00	C	NM_000819		34883664	-1	81	57	66	62	tier1	no_errors	ENST00000381815	ensembl	human	known	74_37	missense	54.73	47.90	SNP	1.000	T	81	66
C4orf3	401152	genome.wustl.edu	37	4	120221759	120221759	+	5'UTR	SNP	C	C	G			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr4:120221759C>G	ENST00000504110.1	-	0	317				C4orf3_ENST00000399075.4_Missense_Mutation_p.A111P	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						TTGGTGTTCGCCGCACCGGAA	0.627													ENSG00000164096																																					0													67.0	68.0	68.0					4																	120221759		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			-		CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-69G>C	4.37:g.120221759C>G			Q6J203	Missense_Mutation	SNP	NULL	p.A111P	ENST00000504110.1	37	c.331	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088691	0.36855	.	.	ENSG00000164096	ENST00000399075	T	0.38240	1.15	4.14	2.38	0.29361	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.33803	-0.9854	5	0.24483	T	0.36	.	6.7666	0.23571	0.0:0.5566:0.3437:0.0997	.	.	.	.	P	111	ENSP00000382026:A111P	ENSP00000382026:A111P	A	-	1	0	C4orf3	120441207	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.467000	0.22035	0.466000	0.27193	-0.122000	0.15005	GCG	-	C4orf3	-	NULL		0.627	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	0	0	0	39	39	73	0.00	0.00	C	NM_001001701		120221759	-1	30	34	43	63	tier1	no_errors	ENST00000399075	ensembl	human	known	74_37	missense	41.10	35.05	SNP	0.000	G	30	43
PIEZO2	63895	genome.wustl.edu	37	18	10773615	10773615	+	Silent	SNP	C	C	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr18:10773615C>T	ENST00000503781.3	-	18	2504	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P	PIEZO2_ENST00000580640.1_Silent_p.P860P|PIEZO2_ENST00000383408.2_Silent_p.P123P|PIEZO2_ENST00000302079.6_Silent_p.P835P	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	835					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGCTTCCTTCCGGGTGGGCCA	0.562													ENSG00000154864																																					0													36.0	32.0	33.0					18																	10773615		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2505G>A	18.37:g.10773615C>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.P849	ENST00000503781.3	37	c.2547		18																																																																																			-	PIEZO2	-	NULL		0.562	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	0	0	0	36	36	77	0.00	0.00	C	NM_022068		10773615	-1	15	43	17	61	tier1	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	46.88	41.35	SNP	0.681	T	15	17
CNTNAP3	79937	genome.wustl.edu	37	9	39178156	39178156	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr9:39178156G>C	ENST00000297668.6	-	5	813	c.740C>G	c.(739-741)tCa>tGa	p.S247*	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.S159*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.S247*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.S247*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.S247*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	247	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTTTTACCTGAATTAAGAAA	0.308													ENSG00000106714																																					0													32.0	36.0	35.0					9																	39178156		2135	4238	6373	SO:0001587	stop_gained	0			-	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.740C>G	9.37:g.39178156G>C	ENSP00000297668:p.Ser247*		B1AMA0|Q9C0E9	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S247*	ENST00000297668.6	37	c.740	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.871032	0.98537	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1502	0.15005	0.2495:0.0:0.7505:0.0	.	.	.	.	X	247;247;159;247;247;159	.	ENSP00000297668:S247X	S	-	2	0	CNTNAP3	39168156	0.915000	0.31059	0.951000	0.38953	0.976000	0.68499	1.599000	0.36751	1.740000	0.51718	0.563000	0.77884	TCA	-	CNTP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.308	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP3	HGNC	protein_coding	OTTHUMT00000052511.1	0	0	1	151	151	111	0.00	0.89	G	NM_033655		39178156	-1	117	41	134	70	tier1	no_errors	ENST00000297668	ensembl	human	known	74_37	nonsense	46.61	36.94	SNP	0.967	C	117	134
VPS13B	157680	genome.wustl.edu	37	8	100880651	100880651	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr8:100880651C>G	ENST00000358544.2	+	59	11536	c.11425C>G	c.(11425-11427)Ccc>Gcc	p.P3809A	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3784A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3809					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCACAAAGCCCATCGGAGG	0.527													ENSG00000132549																									Colon(161;2205 2542 7338 31318)												0													82.0	72.0	76.0					8																	100880651		2203	4300	6503	SO:0001583	missense	0			-	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11425C>G	8.37:g.100880651C>G	ENSP00000351346:p.Pro3809Ala		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.P3809A	ENST00000358544.2	37	c.11425	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937155	0.92458	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.91124	-2.77;-2.79	5.83	5.83	0.93111	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95655	0.8710	10	0.66056	D	0.02	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	3784;3809	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	3784;3809	ENSP00000349685:P3784A;ENSP00000351346:P3809A	ENSP00000349685:P3784A	P	+	1	0	VPS13B	100949827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	CCC	-	VPS13B	-	pfam_Autophagy-rel_C		0.527	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	0	0	0	76	76	77	0.00	0.00	C	NM_184042		100880651	+1	56	40	76	45	tier1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	42.42	47.06	SNP	1.000	G	56	76
MTHFD1L	25902	genome.wustl.edu	37	6	151206811	151206811	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr6:151206811C>G	ENST00000367321.3	+	6	858	c.584C>G	c.(583-585)gCc>gGc	p.A195G	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.A195G	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	195	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGAGGGGATGCCCATGAATGT	0.408													ENSG00000120254																																					0													146.0	149.0	148.0					6																	151206811		2203	4300	6503	SO:0001583	missense	0			-	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.584C>G	6.37:g.151206811C>G	ENSP00000356290:p.Ala195Gly		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_D-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.A195G	ENST00000367321.3	37	c.584	CCDS5228.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.151938|2.151938	0.38021|0.38021	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321;ENST00000367307;ENST00000423867;ENST00000443074;ENST00000425276|ENST00000367308	T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);|.	0.678882|.	0.14953|.	N|.	0.288785|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.17474|0.17474	0.49|0.49	0.32917|0.32917	D|D	0.51528|0.51528	B;B;P|.	0.52692|.	0.425;0.425;0.955|.	B;B;P|.	0.47470|.	0.182;0.182;0.548|.	T|T	0.07233|0.07233	-1.0783|-1.0783	10|5	0.11182|.	T|.	0.66|.	.|.	8.7966|8.7966	0.34883|0.34883	0.0:0.901:0.0:0.099|0.0:0.901:0.0:0.099	.|.	195;195;195|.	B7ZM99;Q6UB35;Q6UB35-2|.	.;C1TM_HUMAN;.|.	G|A	195;195;85;40;39|155	ENSP00000356290:A195G;ENSP00000356276:A195G;ENSP00000400776:A85G;ENSP00000415039:A40G;ENSP00000414412:A39G|.	ENSP00000356276:A195G|.	A|P	+|+	2|1	0|0	MTHFD1L|MTHFD1L	151248504|151248504	0.761000|0.761000	0.28439|0.28439	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	0.739000|0.739000	0.26173|0.26173	2.468000|2.468000	0.83385|0.83385	0.555000|0.555000	0.69702|0.69702	GCC|CCC	-	MTHFD1L	-	pfam_THF_DH/CycHdrlase_D-bd_dom		0.408	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	0	0	0	81	81	143	0.00	0.00	C	NM_015440		151206811	+1	64	79	72	69	tier1	no_errors	ENST00000367321	ensembl	human	known	74_37	missense	46.72	53.02	SNP	1.000	G	64	72
C16orf96	342346	genome.wustl.edu	37	16	4625892	4625892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr16:4625892G>T	ENST00000444310.4	+	5	1411	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GGGCCTTCGGGAGAGGGCCCG	0.592													ENSG00000205832																																					0													39.0	39.0	39.0					16																	4625892		692	1591	2283	SO:0001587	stop_gained	0			-		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.1411G>T	16.37:g.4625892G>T	ENSP00000415027:p.Glu471*			Nonsense_Mutation	SNP	NULL	p.E471*	ENST00000444310.4	37	c.1411	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058544	0.55325	.	.	ENSG00000205832	ENST00000444310	.	.	.	1.69	-0.529	0.11901	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.2303	0.15418	0.395:0.0:0.605:0.0	.	.	.	.	X	471	.	ENSP00000415027:E471X	E	+	1	0	C16orf96	4565893	0.019000	0.18553	0.000000	0.03702	0.034000	0.12701	1.065000	0.30592	-0.134000	0.11516	0.313000	0.20887	GAG	-	C16orf96	-	NULL		0.592	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	0	0	0	61	61	58	0.00	0.00	G	NM_001145011		4625892	+1	53	51	43	21	tier1	no_errors	ENST00000444310	ensembl	human	known	74_37	nonsense	55.21	70.83	SNP	0.004	T	53	43
SLC7A14	57709	genome.wustl.edu	37	3	170216674	170216674	+	Splice_Site	SNP	C	C	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr3:170216674C>T	ENST00000231706.5	-	4	857		c.e4-1		CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14						negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCACCTTTCCCTAGAGAGGAA	0.493													ENSG00000013293																																					0													85.0	70.0	75.0					3																	170216674		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.542-1G>A	3.37:g.170216674C>T			B3KV33|Q9HCF9	Splice_Site	SNP	-	e3-1	ENST00000231706.5	37	c.542-1	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758208	0.89843	.	.	ENSG00000013293	ENST00000231706	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A14	171699368	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.466000	0.80914	2.730000	0.93505	0.655000	0.94253	.	-	SLC7A14	-	-		0.493	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	0	0	1	46	46	105	0.00	0.94	C	NM_020949	Intron	170216674	-1	27	42	25	47	tier1	no_errors	ENST00000231706	ensembl	human	known	74_37	splice_site	51.92	47.19	SNP	1.000	T	27	25
ERBB4	2066	genome.wustl.edu	37	2	212295769	212295769	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr2:212295769A>T	ENST00000342788.4	-	21	2854	c.2544T>A	c.(2542-2544)aaT>aaA	p.N848K	ERBB4_ENST00000402597.1_Missense_Mutation_p.N838K|ERBB4_ENST00000436443.1_Missense_Mutation_p.N848K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCACTAAGACATTACGGGCTG	0.418										TSP Lung(8;0.080)			ENSG00000178568																																					0													141.0	136.0	138.0					2																	212295769		2203	4300	6503	SO:0001583	missense	0			-	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2544T>A	2.37:g.212295769A>T	ENSP00000342235:p.Asn848Lys		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N848K	ENST00000342788.4	37	c.2544	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638120	0.67130	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86297	-2.1;-2.1;-2.1	5.04	1.32	0.21799	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95223	0.8451	H	0.98407	4.225	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.93279	0.6658	10	0.87932	D	0	.	8.9189	0.35599	0.7827:0.0:0.2173:0.0	.	838;838;848;848	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	848;848;838	ENSP00000342235:N848K;ENSP00000403204:N848K;ENSP00000385565:N838K	ENSP00000342235:N848K	N	-	3	2	ERBB4	212004014	0.997000	0.39634	0.994000	0.49952	0.935000	0.57460	0.627000	0.24506	0.039000	0.15632	0.460000	0.39030	AAT	-	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	0	0	0	70	70	114	0.00	0.00	A	NM_001042599		212295769	-1	57	57	60	51	tier1	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	48.72	52.78	SNP	1.000	T	57	60
MDM2	4193	genome.wustl.edu	37	12	69222659	69222659	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr12:69222659T>C	ENST00000350057.5	+	6	539	c.539T>C	c.(538-540)aTa>aCa	p.I180T	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.I150T|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.I211T|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.I156T|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|RP11-611O2.1_ENST00000544710.1_RNA			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	205	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATAAGGGAGATATGTTGTGAA	0.403			A		"""sarcoma, glioma, colorectal, other"""								ENSG00000135679																												Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0													180.0	171.0	174.0					12																	69222659		1914	4119	6033	SO:0001583	missense	0			-		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.539T>C	12.37:g.69222659T>C	ENSP00000266624:p.Ile180Thr		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.I211T	ENST00000350057.5	37	c.632		12	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742579	0.49151	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.46819	1.5;0.86;0.86;0.87;1.51	4.64	4.64	0.57946	SWIB/MDM2 domain (1);	0.328417	0.32624	N	0.005860	T	0.41534	0.1163	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.40875	0.731;0.501;0.547;0.682	B;B;B;B	0.39531	0.302;0.118;0.302;0.221	T	0.30387	-0.9980	9	.	.	.	-16.4192	14.7829	0.69779	0.0:0.0:0.0:1.0	.	160;205;156;211	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	T	211;160;150;205;166;156;205;205;180	ENSP00000417281:I211T;ENSP00000258149:I150T;ENSP00000258148:I156T;ENSP00000444430:I205T;ENSP00000266624:I180T	.	I	+	2	0	MDM2	67508926	1.000000	0.71417	0.946000	0.38457	0.919000	0.55068	5.444000	0.66587	2.052000	0.61016	0.383000	0.25322	ATA	-	MDM2	-	superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4		0.403	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	0	0	0	32	32	116	0.00	0.00	T	NM_006880		69222659	+1	26	51	30	68	tier1	no_errors	ENST00000462284	ensembl	human	known	74_37	missense	46.43	42.86	SNP	0.919	C	26	30
ZSCAN21	7589	genome.wustl.edu	37	7	99654810	99654810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr7:99654810G>T	ENST00000292450.4	+	2	345	c.181G>T	c.(181-183)Gag>Tag	p.E61*	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.E61*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.E61*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	61	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGACCCCGAGAGGCCCTGAG	0.587													ENSG00000166529																																					0													65.0	67.0	67.0					7																	99654810		2203	4300	6503	SO:0001587	stop_gained	0			-	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.181G>T	7.37:g.99654810G>T	ENSP00000292450:p.Glu61*		A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E61*	ENST00000292450.4	37	c.181	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.788103	0.96945	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	4.91	0.64330	.	0.000000	0.40469	N	0.001090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7845	0.63102	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000292450:E61X	E	+	1	0	ZSCAN21	99492746	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.517000	0.73759	2.721000	0.93114	0.655000	0.94253	GAG	-	ZSCAN21	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.587	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	0	0	0	46	46	53	0.00	0.00	G	NM_145914		99654810	+1	58	19	50	22	tier1	no_errors	ENST00000292450	ensembl	human	known	74_37	nonsense	53.70	46.34	SNP	1.000	T	58	50
OR51G1	79324	genome.wustl.edu	37	11	4945061	4945061	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr11:4945061T>C	ENST00000321961.2	-	1	576	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGTGGCAGTATTGGAAGCG	0.502													ENSG00000176879																																					0													74.0	64.0	68.0					11																	4945061		2201	4298	6499	SO:0001583	missense	0			-	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.509A>G	11.37:g.4945061T>C	ENSP00000322546:p.Tyr170Cys		B9EGW8|Q6IFH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y170C	ENST00000321961.2	37	c.509	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	T	9.389	1.075131	0.20227	.	.	ENSG00000176879	ENST00000321961	T	0.00179	8.61	4.3	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003011	T	0.00552	0.0018	M	0.89414	3.03	0.31224	N	0.697074	D	0.89917	1.0	D	0.87578	0.998	T	0.16600	-1.0397	10	0.66056	D	0.02	.	7.4992	0.27507	0.4815:0.0:0.0:0.5184	.	170	Q8NGK1	O51G1_HUMAN	C	170	ENSP00000322546:Y170C	ENSP00000322546:Y170C	Y	-	2	0	OR51G1	4901637	0.000000	0.05858	0.995000	0.50966	0.057000	0.15508	-0.425000	0.07017	0.646000	0.30693	0.455000	0.32223	TAC	-	OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	0	0	0	60	60	73	0.00	0.00	T	NM_001005237		4945061	-1	35	31	37	49	tier1	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	48.61	38.75	SNP	0.963	C	35	37
MIR663AHG	284801	genome.wustl.edu	37	20	26231957	26231957	+	IGR	SNP	G	G	A			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr20:26231957G>A								MIR663A (43043 upstream) : None (None downstream)																							cctggactccgtctgctgttt	0.607													ENSG00000227195																																					0																																										SO:0001628	intergenic_variant	0			-																													20.37:g.26231957G>A				R	SNP	-	NULL		37	NULL		20																																																																																			-	MIR663A	-	-	0	0.607					MIR663A	HGNC			0	0	0	15	15	39	0.00	0.00	G			26231957	-1	13	25	18	24	tier1	no_errors	ENST00000594130	ensembl	human	known	74_37	rna	41.94	51.02	SNP	0.046	A	13	18
FER	2241	genome.wustl.edu	37	5	108207846	108207846	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:108207846G>C	ENST00000281092.4	+	8	1240	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	FER_ENST00000536402.1_Missense_Mutation_p.E286Q|FER_ENST00000438717.2_Missense_Mutation_p.E111Q	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	286	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTACTGGAAGAAAATGAAAA	0.303													ENSG00000151422																									Colon(146;1051 1799 9836 27344 47401)												0													65.0	65.0	65.0					5																	108207846		2200	4293	6493	SO:0001583	missense	0			-	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.856G>C	5.37:g.108207846G>C	ENSP00000281092:p.Glu286Gln		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.E286Q	ENST00000281092.4	37	c.856	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847828	0.71603	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	T;T;T	0.75938	-0.95;1.8;-0.98	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.77103	2.36	0.80722	D	1	B	0.21606	0.058	B	0.28011	0.085	T	0.76222	-0.3038	10	0.72032	D	0.01	-14.9168	20.1708	0.98159	0.0:0.0:1.0:0.0	.	286	P16591	FER_HUMAN	Q	286;286;111	ENSP00000281092:E286Q;ENSP00000442627:E286Q;ENSP00000394297:E111Q	ENSP00000281092:E286Q	E	+	1	0	FER	108235745	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.293000	0.96082	2.761000	0.94854	0.655000	0.94253	GAA	-	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.303	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	0	0	0	33	33	98	0.00	0.00	G	NM_005246		108207846	+1	20	44	36	54	tier1	no_errors	ENST00000281092	ensembl	human	known	74_37	missense	34.48	44.44	SNP	1.000	C	20	36
SH3BP5L	80851	genome.wustl.edu	37	1	249109041	249109041	+	Intron	SNP	A	A	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr1:249109041A>C	ENST00000366472.5	-	5	1605				SH3BP5L_ENST00000411742.2_Intron|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like											endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TAGATGTGTGAAATCCAGCAC	0.393													ENSG00000175137																																					0																																										SO:0001627	intron_variant	0			-	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.376-232T>G	1.37:g.249109041A>C			B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	R	SNP	-	NULL	ENST00000366472.5	37	NULL	CCDS31126.1	1																																																																																			-	SH3BP5L	-	-		0.393	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1	0	0	0	14	14	94	0.00	0.00	A	NM_030645		249109041	-1	10	47	13	43	tier1	no_errors	ENST00000475978	ensembl	human	known	74_37	rna	43.48	51.65	SNP	0.001	C	10	13
METTL2A	339175	genome.wustl.edu	37	17	60503814	60503814	+	Silent	SNP	C	C	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr17:60503814C>T	ENST00000311506.5	+	3	393	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	119					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TCTTGGAGAACAAGAGTGAAG	0.393													ENSG00000087995																																					0													108.0	86.0	92.0					17																	60503814		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.357C>T	17.37:g.60503814C>T			A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	p.N119	ENST00000311506.5	37	c.357	CCDS45752.1	17																																																																																			-	METTL2A	-	pirsf_MeTrfase		0.393	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1	0	0	0	126	126	119	0.00	0.00	C	NM_181725		60503814	+1	90	53	86	55	tier1	no_errors	ENST00000311506	ensembl	human	known	74_37	silent	51.14	49.07	SNP	0.000	T	90	86
PTPRS	5802	genome.wustl.edu	37	19	5212070	5212070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr19:5212070delG	ENST00000587303.1	-	31	5060	c.4961delC	c.(4960-4962)acafs	p.T1654fs	PTPRS_ENST00000357368.4_Frame_Shift_Del_p.T1654fs|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Frame_Shift_Del_p.T1207fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.T1616fs|PTPRS_ENST00000592099.1_Frame_Shift_Del_p.T1207fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.T1616fs|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.T1634fs|PTPRS_ENST00000372412.4_Frame_Shift_Del_p.T1655fs			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1654					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCACTTCTGTGTTGCCACA	0.612													ENSG00000105426																																					0													71.0	65.0	67.0					19																	5212070		2203	4300	6503	SO:0001589	frameshift_variant	0				U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4961delC	19.37:g.5212070delG	ENSP00000467537:p.Thr1654fs		O75255|O75870|Q15718|Q16341|Q2M3R7	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.T1655fs	ENST00000587303.1	37	c.4964	CCDS45930.1	19																																																																																				PTPRS	-	NULL		0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	0	0	0	53	53	34	0.00	0.00	G			5212070	-1	39	14	61	19	tier1	no_errors	ENST00000372412	ensembl	human	known	74_37	frame_shift_del	39.00	42.42	DEL	1.000	-	39	61
DOCK2	1794	genome.wustl.edu	37	5	169188536	169188536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:169188536delG	ENST00000256935.8	+	25	2541	c.2461delG	c.(2461-2463)gagfs	p.E821fs	DOCK2_ENST00000520908.1_Frame_Shift_Del_p.E313fs|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	821					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCCTGTATGAGTTCTACAC	0.483													ENSG00000134516																																					0													199.0	182.0	188.0					5																	169188536		2203	4300	6503	SO:0001589	frameshift_variant	0				BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2461delG	5.37:g.169188536delG	ENSP00000256935:p.Glu821fs		Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.E821fs	ENST00000256935.8	37	c.2461	CCDS4371.1	5																																																																																				DOCK2	-	superfamily_ARM-type_fold		0.483	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	0	0	0	54	54	80	0.00	0.00	G	NM_004946		169188536	+1	47	36	47	54	tier1	no_errors	ENST00000256935	ensembl	human	known	74_37	frame_shift_del	50.00	40.00	DEL	1.000	-	47	47
TAPBPL	55080	genome.wustl.edu	37	12	6571921	6571952	+	IGR	DEL	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	-	rs142636658	byFrequency	TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	-	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr12:6571921_6571952delCAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	ENST00000266556.7	+	0	1741				VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000361716.3_3'UTR|VAMP1_ENST00000535180.1_3'UTR|VAMP1_ENST00000400911.3_3'UTR|TAPBPL_ENST00000545700.1_Intron	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like						negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTGCATTAGGCAAGGAGGAGCCCAGAGGAGAGTGGAGACCTTCGAGGGGGGC	0.599													ENSG00000139190																																					0																																										SO:0001628	intergenic_variant	0				AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59			12.37:g.6571921_6571952delCAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT			Q9NWB8	R	DEL	-	NULL	ENST00000266556.7	37	NULL	CCDS8546.1	12																																																																																				VAMP1	-	-		0.599	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP1	HGNC	protein_coding	OTTHUMT00000399263.1	0	0	0	59	59	59	0.00	0.00	CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT	NM_018009		6571952	-1	4	4	36	36	tier1	no_errors	ENST00000544432	ensembl	human	known	74_37	rna	10.00	10.00	DEL	0.927:0.937:0.945:0.951:0.966:0.970:0.986:0.986:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.996:0.987:0.973:0.994:0.998:0.999:1.000:0.999:1.000:1.000:0.994:0.991:0.959:0.932:0.808	-	4	36
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	rs28934578		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr17:7578406C>A	ENST00000269305.4	-	5	713	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L|TP53_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000359597.4_Missense_Mutation_p.R175L	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>T	17.37:g.7578406C>A	ENSP00000269305:p.Arg175Leu		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_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175L	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.433431	0.96150	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99888	-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.985;1.0;1.0;0.988;0.894;1.0	D;D;D;D;D;P;D	0.97110	1.0;0.921;0.999;0.999;0.923;0.847;0.999	D	0.96278	0.9204	10	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175L;ENSP00000352610:R175L;ENSP00000269305:R175L;ENSP00000398846:R175L;ENSP00000391127:R175L;ENSP00000391478:R175L;ENSP00000425104:R43L;ENSP00000423862:R82L	ENSP00000269305:R175L	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	43	43	76	0.00	0.00	C	NM_000546		7578406	-1	42	27	6	3	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	87.50	90.00	SNP	1.000	A	42	6
ZNF628	89887	genome.wustl.edu	37	19	55993959	55993959	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr19:55993959T>C	ENST00000598519.1	+	3	1952	c.1399T>C	c.(1399-1401)Tcc>Ccc	p.S467P	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.S463P|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	467					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAAGGGCTCCTCCGGGCTGCG	0.726													ENSG00000197483																																					0													19.0	19.0	19.0					19																	55993959		2197	4282	6479	SO:0001583	missense	0			-	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1399T>C	19.37:g.55993959T>C	ENSP00000469591:p.Ser467Pro		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S467P	ENST00000598519.1	37	c.1399	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	14.75	2.629168	0.46944	.	.	ENSG00000197483	ENST00000391718	T	0.07908	3.15	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	U	0.000608	T	0.13927	0.0337	L	0.57536	1.79	0.40698	D	0.982456	P	0.41624	0.757	P	0.46796	0.527	T	0.01743	-1.1283	10	0.87932	D	0	-17.6648	10.2547	0.43390	0.0:0.0:0.0:1.0	.	463	Q5EBL2	ZN628_HUMAN	P	463	ENSP00000375598:S463P	ENSP00000375598:S463P	S	+	1	0	ZNF628	60685771	0.003000	0.15002	0.875000	0.34327	0.982000	0.71751	1.005000	0.29834	1.583000	0.49898	0.398000	0.26397	TCC	-	ZNF628	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	0	0	0	54	54	20	0.00	0.00	T	XM_058964		55993959	+1	21	13	4	0	tier1	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	84.00	100.00	SNP	0.954	C	21	4
OLFM3	118427	genome.wustl.edu	37	1	102462400	102462400	+	5'UTR	SNP	C	C	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr1:102462400C>T	ENST00000370103.4	-	0	186				OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCCCTCTTTACTCTCTTTTAT	0.532													ENSG00000118733																																					0													124.0	122.0	123.0					1																	102462400		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000370103.4:c.-28G>A	1.37:g.102462400C>T			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	R	SNP	-	NULL	ENST00000370103.4	37	NULL	CCDS30781.1	1																																																																																			-	OLFM3	-	-		0.532	OLFM3-003	KNOWN	basic|CCDS	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030144.1	0	0	0	165	165	102	0.00	0.00	C			102462400	-1	25	7	186	88	tier1	no_errors	ENST00000462354	ensembl	human	known	74_37	rna	11.85	7.37	SNP	0.989	T	25	186
ANKRD62	342850	genome.wustl.edu	37	18	12107409	12107409	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr18:12107409A>G	ENST00000587848.2	+	8	1172	c.1007A>G	c.(1006-1008)aAg>aGg	p.K336R	ANKRD62_ENST00000314074.8_Missense_Mutation_p.K322R|ANKRD62_ENST00000418274.2_3'UTR			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	336										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						CACAAAATAAAGAACAGAAAA	0.348													ENSG00000181626																																					0																																										SO:0001583	missense	0			-	BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.1007A>G	18.37:g.12107409A>G	ENSP00000467740:p.Lys336Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K322R	ENST00000587848.2	37	c.965		18	.	.	.	.	.	.	.	.	.	.	A	3.155	-0.173287	0.06421	.	.	ENSG00000181626	ENST00000314074;ENST00000418274	T;T	0.36157	1.27;3.08	1.73	-2.87	0.05700	.	.	.	.	.	T	0.16938	0.0407	N	0.20986	0.625	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.28332	-1.0047	9	0.15066	T	0.55	.	2.975	0.05935	0.4051:0.2503:0.3446:0.0	.	336	A6NC57	ANR62_HUMAN	R	322;58	ENSP00000326572:K322R;ENSP00000405628:K58R	ENSP00000326572:K322R	K	+	2	0	ANKRD62	12097409	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.089000	0.15002	-0.725000	0.04901	-0.836000	0.03065	AAG	-	ANKRD62	-	NULL		0.348	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	0	0	0	68	68	104	0.00	0.00	A	XM_001715728		12107409	+1	9	8	93	89	tier1	no_errors	ENST00000314074	ensembl	human	known	74_37	missense	8.82	8.25	SNP	0.000	G	9	93
MUC4	4585	genome.wustl.edu	37	3	195513615	195513615	+	Silent	SNP	A	A	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr3:195513615A>T	ENST00000463781.3	-	2	5295	c.4836T>A	c.(4834-4836)ggT>ggA	p.G1612G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.G1612G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGTGTGACCTGTAGATG	0.567													ENSG00000145113																																					0													8.0	13.0	12.0					3																	195513615		635	1500	2135	SO:0001819	synonymous_variant	0			-	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4836T>A	3.37:g.195513615A>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.G1612	ENST00000463781.3	37	c.4836	CCDS54700.1	3																																																																																			-	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	0	0	0	586	586	6	0.00	0.00	A	NM_018406		195513615	-1	150	0	707	0	tier1	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	17.48	0.00	SNP	0.000	T	150	707
MED15P1	326615	genome.wustl.edu	37	14	19499970	19499970	+	RNA	SNP	G	G	T			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr14:19499970G>T	ENST00000552968.1	-	0	599									mediator complex subunit 15 pseudogene 1																		GCAGCGAGAAGAGTCCAGGTT	0.632													ENSG00000257853																																					0																																												0			-			14q11.2	2013-06-03	2010-02-25	2010-02-25	ENSG00000257853	ENSG00000257853			19271	pseudogene	pseudogene			"""PCQAP pseudogene"", ""mediator complex subunit 15 pseudogene"""	PCQAPP, MED15P			Standard	NG_002605		Approved				OTTHUMG00000170337		14.37:g.19499970G>T				R	SNP	-	NULL	ENST00000552968.1	37	NULL		14																																																																																			-	MED15P1	-	-		0.632	MED15P1-002	KNOWN	basic	processed_transcript	MED15P1	HGNC	pseudogene	OTTHUMT00000408573.1	0	0	0	27	27	3	0.00	0.00	G	NG_002605		19499970	-1	6	1	34	0	tier1	no_errors	ENST00000552968	ensembl	human	known	74_37	rna	15.00	100.00	SNP	1.000	T	6	34
MSH3	4437	genome.wustl.edu	37	5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-	rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)					ENSG00000113318																									Melanoma(88;1010 1399 13793 26548 36275)												0									,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				SO:0001651	inframe_deletion	0				U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																				MSH3	-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	0	0	0	0	0	0	0.00	0.00	GCAGCGGCTGCAGCGGCC	NM_002439		79950717	+1	0	0	0	0	tier1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	0.00	0.00	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	0	0
MSH3	4437	genome.wustl.edu	37	5	79950714	79950714	+	Frame_Shift_Del	DEL	G	G	-	rs201874762		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950714delG	ENST00000265081.6	+	1	248	c.168delG	c.(166-168)gcgfs	p.A62fs	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	62	Poly-Ala.		A -> AAAA. {ECO:0000269|PubMed:8851770}.|Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		cggctgcagcggccgcagcgg	0.687								Mismatch excision repair (MMR)					ENSG00000113318																									Melanoma(88;1010 1399 13793 26548 36275)												0													7.0	7.0	7.0					5																	79950714		2092	4074	6166	SO:0001589	frameshift_variant	0				U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.168delG	5.37:g.79950714delG	ENSP00000265081:p.Ala62fs		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C	p.A57fs	ENST00000265081.6	37	c.168	CCDS34195.1	5																																																																																				MSH3	-	NULL		0.687	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	0	0	0	25	25	0	0.00	0.00	G	NM_002439		79950714	+1	12	0	30	0	tier1	no_errors	ENST00000265081	ensembl	human	known	74_37	frame_shift_del	28.57	0.00	DEL	0.172	-	12	30
MSH3	4437	genome.wustl.edu	37	5	79950723	79950723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950723delG	ENST00000265081.6	+	1	257	c.177delG	c.(175-177)gcgfs	p.A62fs	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	62	Poly-Ala.		A -> AAAA. {ECO:0000269|PubMed:8851770}.|Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		cggccgcagcggccgcagcgC	0.706								Mismatch excision repair (MMR)					ENSG00000113318																									Melanoma(88;1010 1399 13793 26548 36275)												0													5.0	6.0	6.0					5																	79950723		2054	3996	6050	SO:0001589	frameshift_variant	0				U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.177delG	5.37:g.79950723delG	ENSP00000265081:p.Ala62fs		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C	p.A60fs	ENST00000265081.6	37	c.177	CCDS34195.1	5																																																																																				MSH3	-	NULL		0.706	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	0	0	0	17	17	0	0.00	0.00	G	NM_002439		79950723	+1	11	0	38	0	tier1	no_errors	ENST00000265081	ensembl	human	known	74_37	frame_shift_del	22.45	0.00	DEL	0.730	-	11	38
NPIPB11	728888	genome.wustl.edu	37	16	29394193	29394193	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr16:29394193G>A	ENST00000524087.1	-	8	2134	c.2060C>T	c.(2059-2061)cCg>cTg	p.P687L	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	687	Pro-rich.					integral component of membrane (GO:0016021)											GCTGACGCTCGGAAGGTGTCT	0.597													ENSG00000254206																																					0																																										SO:0001583	missense	0			-			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.2060C>T	16.37:g.29394193G>A	ENSP00000430853:p.Pro687Leu			Missense_Mutation	SNP	NULL	p.P687L	ENST00000524087.1	37	c.2060		16	.	.	.	.	.	.	.	.	.	.	g	9.720	1.159423	0.21454	.	.	ENSG00000254206	ENST00000524087	T	0.29917	1.55	.	.	.	.	.	.	.	.	T	0.19644	0.0472	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	5	0.48119	T	0.1	.	.	.	.	.	.	.	.	L	687	ENSP00000430853:P687L	ENSP00000430853:P687L	P	-	2	0	RP11-231C14.2	29301694	.	.	0.002000	0.10522	0.002000	0.02628	.	.	0.073000	0.16731	0.074000	0.15403	CCG	-	NPIPB11	-	NULL		0.597	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1	0	0	0	27	27	0	0.00	0.00	G	XM_002343430		29394193	-1	5	0	36	0	tier1	no_errors	ENST00000524087	ensembl	human	putative	74_37	missense	12.20	0.00	SNP	0.002	A	5	36
NRXN1	9378	genome.wustl.edu	37	2	50147836	50147843	+	3'UTR	DEL	GTGTGTGT	GTGTGTGT	-	rs200264093|rs201814381|rs199597709|rs368179294|rs200969250|rs66612444		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	GTGTGTGT	GTGTGTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr2:50147836_50147843delGTGTGTGT	ENST00000406316.2	-	0	7149_7156				NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR|NRXN1_ENST00000404971.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTGGATTCgtgtgtgtgtgtgtgtgt	0.394													ENSG00000179915																																					0																																										SO:0001624	3_prime_UTR_variant	0				AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1246ACACACAC>-	2.37:g.50147844_50147851delGTGTGTGT			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	R	DEL	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																				NRXN1	-	-		0.394	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	0	0	0	1	1	1	0.00	0.00	GTGTGTGT			50147843	-1	0	0	0	0	tier1	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109	-	0	0
