#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS1	9510	genome.wustl.edu	37	21	28210587	28210587	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr21:28210587G>T	ENST00000284984.3	-	9	2669	c.2215C>A	c.(2215-2217)Cat>Aat	p.H739N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	739	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATGATATCATGATATCCAGGT	0.398																																						dbGAP											0													76.0	67.0	70.0					21																	28210587		2198	4290	6488	-	-	-	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2215C>A	21.37:g.28210587G>T	ENSP00000284984:p.His739Asn		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.H739N	ENST00000284984.3	37	c.2215	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	1.112	-0.657938	0.03454	.	.	ENSG00000154734	ENST00000284984	T	0.48522	0.81	5.43	5.43	0.79202	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.27832	0.0685	N	0.02973	-0.45	0.47123	D	0.999327	B	0.02656	0.0	B	0.10450	0.005	T	0.10245	-1.0638	9	0.22706	T	0.39	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	739	Q9UHI8	ATS1_HUMAN	N	739	ENSP00000284984:H739N	ENSP00000284984:H739N	H	-	1	0	ADAMTS1	27132458	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.917000	0.69989	2.824000	0.97209	0.655000	0.94253	CAT	ADAMTS1	-	pfam_ADAM_spacer1	ENSG00000154734		0.398	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	72	0.00	0	G			28210587	28210587	-1	no_errors	ENST00000284984	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	1.000	T
ARHGAP33	115703	genome.wustl.edu	37	19	36268582	36268582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr19:36268582delG	ENST00000007510.4	+	2	186	c.42delG	c.(40-42)gagfs	p.E14fs	ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.E14fs|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	14					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCAGGGGAGGGCTCGGTGC	0.612																																						dbGAP											0													17.0	19.0	18.0					19																	36268582		2201	4293	6494	-	-	-	SO:0001589	frameshift_variant	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.42delG	19.37:g.36268582delG	ENSP00000007510:p.Glu14fs		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G15fs	ENST00000007510.4	37	c.42		19																																																																																			ARHGAP33	-	NULL	ENSG00000004777		0.612	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		9	0.00	0	G	NM_052948		36268582	36268582	+1	no_errors	ENST00000007510	ensembl	human	known	69_37n	frame_shift_del	5	37.50	3	DEL	0.966	-
ASXL2	55252	genome.wustl.edu	37	2	25976464	25976465	+	Nonsense_Mutation	DNP	CA	CA	AT			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr2:25976464_25976465CA>AT	ENST00000435504.4	-	11	1373_1374	c.1080_1081TG>AT	c.(1078-1083)atTGag>atATag	p.E361*	ASXL2_ENST00000272341.4_Nonsense_Mutation_p.E101*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.E101*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.E333*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	361					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.E101Q(1)|p.E361Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTTCTCAATCTCTTGTC	0.366																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(2)																																								-	-	-	SO:0001587	stop_gained	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1080_1081delinsAT	2.37:g.25976464_25976465delinsAT	ENSP00000391447:p.Glu361*		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation|Silent	SNP	superfamily_Znf_FYVE_PHD	p.E361*|p.I360	ENST00000435504.4	37	c.1081|c.1080		2																																																																																			ASXL2	-	NULL	ENSG00000143970		0.366	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	622|619	0.00	0	C|A	NM_018263		25976464|25976465	25976464|25976465	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	nonsense|silent	264	20.00|19.51	66|64	SNP	1.000	A|T
ATP10D	57205	genome.wustl.edu	37	4	47525064	47525064	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr4:47525064A>T	ENST00000273859.3	+	4	790	c.521A>T	c.(520-522)gAc>gTc	p.D174V	ATP10D_ENST00000504445.1_Missense_Mutation_p.D174V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	174					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGCTGGAAAGACGTTACTGTT	0.353																																						dbGAP											0													95.0	86.0	89.0					4																	47525064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.521A>T	4.37:g.47525064A>T	ENSP00000273859:p.Asp174Val		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D174V	ENST00000273859.3	37	c.521	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569817	0.86439	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.91945	-2.94;-2.94	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.185147	0.46758	D	0.000264	D	0.97331	0.9127	H	0.97415	4	0.58432	D	0.999999	P;B	0.41947	0.766;0.391	P;P	0.57620	0.824;0.691	D	0.98249	1.0492	10	0.87932	D	0	-12.4332	15.5702	0.76330	1.0:0.0:0.0:0.0	.	174;174	Q9P241;Q6PEW3	AT10D_HUMAN;.	V	174	ENSP00000273859:D174V;ENSP00000420909:D174V	ENSP00000273859:D174V	D	+	2	0	ATP10D	47219821	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.192000	0.94947	2.276000	0.75962	0.397000	0.26171	GAC	ATP10D	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000145246		0.353	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	174	0.00	0	A	NM_020453		47525064	47525064	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	1.000	T
B4GALT4	8702	genome.wustl.edu	37	3	118942945	118942945	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr3:118942945G>A	ENST00000483209.1	-	5	1275	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.P212S|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000467604.1_Missense_Mutation_p.P212S|B4GALT4_ENST00000393765.2_Missense_Mutation_p.P212S			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	212					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AGATGCTTGGGATGCTCCTCA	0.483																																						dbGAP											0													124.0	115.0	118.0					3																	118942945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.634C>T	3.37:g.118942945G>A	ENSP00000420161:p.Pro212Ser		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.P212S	ENST00000483209.1	37	c.634	CCDS2986.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076285	0.76415	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82026	-0.0661	10	0.87932	D	0	-16.031	19.3906	0.94581	0.0:0.0:1.0:0.0	.	212	O60513	B4GT4_HUMAN	S	212	ENSP00000420161:P212S;ENSP00000417226:P212S;ENSP00000352144:P212S;ENSP00000377360:P212S	ENSP00000352144:P212S	P	-	1	0	B4GALT4	120425635	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.756000	0.98918	2.827000	0.97445	0.650000	0.86243	CCC	B4GALT4	-	pfam_Galactosyl_T_2_met	ENSG00000121578		0.483	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	159	0.00	0	G	NM_003778		118942945	118942945	-1	no_errors	ENST00000359213	ensembl	human	known	69_37n	missense	80	26.61	29	SNP	1.000	A
C11orf16	56673	genome.wustl.edu	37	11	8947244	8947244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr11:8947244C>A	ENST00000326053.5	-	5	1076	c.970G>T	c.(970-972)Gag>Tag	p.E324*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.E324*|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552																																						dbGAP											0													106.0	99.0	101.0					11																	8947244		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.970G>T	11.37:g.8947244C>A	ENSP00000318999:p.Glu324*		Q53FB2|Q8N6Y9	Nonsense_Mutation	SNP	NULL	p.E324*	ENST00000326053.5	37	c.970	CCDS7794.1	11	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014081	0.35511	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	.	.	.	5.67	-4.31	0.03698	.	0.733363	0.13014	N	0.420641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-23.7353	6.4202	0.21740	0.0:0.3681:0.2969:0.335	.	.	.	.	X	324	.	ENSP00000318999:E324X	E	-	1	0	C11orf16	8903820	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.027000	0.12371	-0.720000	0.04935	-0.136000	0.14681	GAG	C11orf16	-	NULL	ENSG00000176029		0.552	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf16	HGNC	protein_coding	OTTHUMT00000385626.1	64	0.00	0	C	NM_020643		8947244	8947244	-1	no_errors	ENST00000326053	ensembl	human	known	69_37n	nonsense	67	10.67	8	SNP	0.000	A
CCDC181	57821	genome.wustl.edu	37	1	169391389	169391389	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr1:169391389G>A	ENST00000367806.3	-	3	432	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.P94S|CCDC181_ENST00000545005.1_Missense_Mutation_p.P94S	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	94						nucleus (GO:0005634)											TCTGATATGGGATCCAAAGGT	0.418																																						dbGAP											0													61.0	57.0	58.0					1																	169391389		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.280C>T	1.37:g.169391389G>A	ENSP00000356780:p.Pro94Ser		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.P94S	ENST00000367806.3	37	c.280		1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662324	0.29515	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.23147	1.93;1.94;1.93;1.92	5.28	4.37	0.52481	.	0.338365	0.32901	N	0.005501	T	0.14743	0.0356	M	0.65975	2.015	0.26704	N	0.971114	B;P;P	0.38504	0.135;0.634;0.634	B;B;B	0.34242	0.049;0.178;0.178	T	0.05007	-1.0912	9	0.44086	T	0.13	0.0032	13.8443	0.63457	0.0737:0.0:0.9263:0.0	.	94;94;94	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	S	94	ENSP00000356779:P94S;ENSP00000356780:P94S;ENSP00000442297:P94S;ENSP00000411000:P94S	ENSP00000356779:P94S	P	-	1	0	C1orf114	167658013	0.553000	0.26513	0.968000	0.41197	0.644000	0.38419	2.849000	0.48286	1.228000	0.43614	-0.251000	0.11542	CCC	C1orf114	-	NULL	ENSG00000117477		0.418	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	309	0.00	0	G	NM_021179		169391389	169391389	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	missense	246	10.79	30	SNP	0.918	A
DCANP1	140947	genome.wustl.edu	37	5	134782595	134782595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr5:134782595G>T	ENST00000503143.2	-	1	443	c.204C>A	c.(202-204)taC>taA	p.Y68*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		68						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCTGGAGGGTAGAGACCCT	0.597																																						dbGAP											0													25.0	27.0	26.0					5																	134782595		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0																														ENST00000503143.2:c.204C>A	5.37:g.134782595G>T	ENSP00000421871:p.Tyr68*			Nonsense_Mutation	SNP	NULL	p.Y68*	ENST00000503143.2	37	c.204	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840859	0.71488	.	.	ENSG00000251380	ENST00000503143	.	.	.	3.24	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.9745	0.14133	0.3102:0.0:0.6898:0.0	.	.	.	.	X	68	.	ENSP00000421871:Y68X	Y	-	3	2	C5orf20	134810494	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.416000	0.21198	0.340000	0.23745	0.491000	0.48974	TAC	C5orf20	-	NULL	ENSG00000251380		0.597	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf20	HGNC	protein_coding	OTTHUMT00000372531.1	92	0.00	0	G			134782595	134782595	-1	no_errors	ENST00000503143	ensembl	human	known	69_37n	nonsense	52	10.34	6	SNP	0.002	T
CDH1	999	genome.wustl.edu	37	16	68845625	68845625	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr16:68845625delG	ENST00000261769.5	+	7	1062	c.871delG	c.(871-873)gatfs	p.D292fs	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Frame_Shift_Del_p.D292fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	292	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)|p.D291N(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGACGCGGACGATGATGTGAA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|breast(1)											126.0	107.0	114.0					16																	68845625		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.871delG	16.37:g.68845625delG	ENSP00000261769:p.Asp292fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D291fs	ENST00000261769.5	37	c.871	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	171	0.00	0	G	NM_004360		68845625	68845625	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	78	28.32	32	DEL	0.997	-
CIT	11113	genome.wustl.edu	37	12	120189920	120189920	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr12:120189920G>A	ENST00000261833.7	-	22	2765	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	CIT_ENST00000392521.2_Missense_Mutation_p.R947C|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	905					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGCCTGGCGAAGCTGGCTC	0.607																																						dbGAP											0													51.0	48.0	49.0					12																	120189920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2713C>T	12.37:g.120189920G>A	ENSP00000261833:p.Arg905Cys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R905C	ENST00000261833.7	37	c.2713	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901375	0.72754	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.68025	-0.19;-0.3	5.41	4.51	0.55191	.	0.129206	0.56097	D	0.000040	T	0.51312	0.1667	N	0.08118	0	0.58432	D	0.999995	D;P;D	0.65815	0.995;0.946;0.968	B;B;B	0.44315	0.446;0.249;0.431	T	0.62364	-0.6870	10	0.72032	D	0.01	.	16.1033	0.81203	0.0:0.1343:0.8657:0.0	.	947;905;438	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	C	947;905	ENSP00000376306:R947C;ENSP00000261833:R905C	ENSP00000261833:R905C	R	-	1	0	CIT	118674303	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	6.431000	0.73395	1.255000	0.44051	-0.181000	0.13052	CGC	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.607	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	45	0.00	0	G	NM_007174		120189920	120189920	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	1.000	A
DCAF8L1	139425	genome.wustl.edu	37	X	27997690	27997690	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:27997690C>T	ENST00000441525.1	-	1	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	588								p.E588K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCTCCTCCTCGGATGTATCT	0.502																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											111.0	85.0	94.0					X																	27997690		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1762G>A	X.37:g.27997690C>T	ENSP00000405222:p.Glu588Lys		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E588K	ENST00000441525.1	37	c.1762	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971566	0.34754	.	.	ENSG00000226372	ENST00000441525	T	0.65364	-0.15	0.842	0.842	0.18927	.	0.374885	0.22253	N	0.062525	T	0.52158	0.1717	M	0.74881	2.28	0.21933	N	0.999461	D	0.54601	0.967	B	0.39027	0.288	T	0.48636	-0.9018	10	0.24483	T	0.36	.	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	588	A6NGE4	DC8L1_HUMAN	K	588	ENSP00000405222:E588K	ENSP00000405222:E588K	E	-	1	0	DCAF8L1	27907611	0.910000	0.30920	0.066000	0.19879	0.075000	0.17131	0.894000	0.28350	0.691000	0.31592	0.284000	0.19432	GAG	DCAF8L1	-	NULL	ENSG00000226372		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	280	0.00	0	C	XM_066690		27997690	27997690	-1	no_errors	ENST00000441525	ensembl	human	known	69_37n	missense	164	18.72	38	SNP	0.782	T
DMD	1756	genome.wustl.edu	37	X	31462683	31462683	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:31462683C>T	ENST00000357033.4	-	60	9205	c.8999G>A	c.(8998-9000)cGc>cAc	p.R3000H	DMD_ENST00000541735.1_Missense_Mutation_p.R540H|DMD_ENST00000378677.2_Missense_Mutation_p.R2996H|DMD_ENST00000343523.2_Missense_Mutation_p.R540H|DMD_ENST00000378707.3_Missense_Mutation_p.R540H|DMD_ENST00000359836.1_Missense_Mutation_p.R540H|DMD_ENST00000474231.1_Missense_Mutation_p.R540H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3000					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R540L(1)|p.R1659L(1)|p.R2996L(1)|p.R2995L(1)|p.R3000L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTAAGCTGGCGAGCAAGGTC	0.478																																						dbGAP											5	Substitution - Missense(5)	kidney(5)											162.0	124.0	137.0					X																	31462683		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8999G>A	X.37:g.31462683C>T	ENSP00000354923:p.Arg3000His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R3000H	ENST00000357033.4	37	c.8999	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274815	0.40194	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.74	3.95	0.45737	.	0.480098	0.15061	N	0.282728	T	0.06142	0.0159	N	0.00186	-1.895	0.24573	N	0.993918	D;B;B;B;B;B;B;B;B;B;B	0.52996	0.957;0.0;0.001;0.0;0.0;0.0;0.001;0.001;0.003;0.002;0.0	B;B;B;B;B;B;B;B;B;B;B	0.32090	0.14;0.001;0.001;0.001;0.001;0.0;0.002;0.002;0.002;0.001;0.001	T	0.01071	-1.1461	10	0.27082	T	0.32	.	5.6503	0.17612	0.0:0.6191:0.0:0.3809	.	2992;3000;2996;1659;1656;540;540;540;540;540;2877	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	H	2992;1659;1656;696;2996;3000;540;540;3000;2877;540;540;540	ENSP00000350765:R696H;ENSP00000367948:R2996H;ENSP00000354923:R3000H;ENSP00000352894:R540H;ENSP00000340057:R540H;ENSP00000367979:R540H;ENSP00000444119:R540H;ENSP00000417123:R540H	ENSP00000340057:R540H	R	-	2	0	DMD	31372604	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.427000	0.34881	1.157000	0.42530	0.594000	0.82650	CGC	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	187	0.53	1	C	NM_004006		31462683	31462683	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	160	16.23	31	SNP	0.987	T
DMD	1756	genome.wustl.edu	37	X	32481659	32481659	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:32481659T>G	ENST00000357033.4	-	25	3535	c.3329A>C	c.(3328-3330)gAa>gCa	p.E1110A	DMD_ENST00000378677.2_Missense_Mutation_p.E1106A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1110					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCACCTTCATTGACACT	0.393																																						dbGAP											0													163.0	114.0	130.0					X																	32481659		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3329A>C	X.37:g.32481659T>G	ENSP00000354923:p.Glu1110Ala		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E1110A	ENST00000357033.4	37	c.3329	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397961	0.83120	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52526	0.66;0.66	5.43	5.43	0.79202	.	0.000000	0.37577	U	0.002031	T	0.60366	0.2263	M	0.67953	2.075	0.80722	D	1	P;P;P	0.50819	0.925;0.931;0.939	P;P;P	0.54815	0.616;0.761;0.735	T	0.61903	-0.6967	10	0.45353	T	0.12	.	14.5897	0.68354	0.0:0.0:0.0:1.0	.	1102;1110;1106	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	A	1102;1106;1110;1110;987	ENSP00000367948:E1106A;ENSP00000354923:E1110A	ENSP00000354923:E1110A	E	-	2	0	DMD	32391580	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.841000	0.86834	1.825000	0.53177	0.356000	0.21956	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	95	0.00	0	T	NM_004006		32481659	32481659	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	1.000	G
DOCK4	9732	genome.wustl.edu	37	7	111409677	111409677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr7:111409677delG	ENST00000437633.1	-	36	3965	c.3709delC	c.(3709-3711)ctcfs	p.L1237fs	DOCK4_ENST00000494651.2_Frame_Shift_Del_p.L120fs|DOCK4_ENST00000428084.1_Frame_Shift_Del_p.L1246fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1237	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTCCCTGAGGGGCCGATCA	0.512																																						dbGAP											0													100.0	100.0	100.0					7																	111409677		1973	4148	6121	-	-	-	SO:0001589	frameshift_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3709delC	7.37:g.111409677delG	ENSP00000404179:p.Leu1237fs		O14584|O94824|Q8NB45	Frame_Shift_Del	DEL	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.L1246fs	ENST00000437633.1	37	c.3736	CCDS47688.1	7																																																																																			DOCK4	-	NULL	ENSG00000128512		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	83	0.00	0	G	NM_014705		111409677	111409677	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	frame_shift_del	72	22.11	21	DEL	1.000	-
EP400	57634	genome.wustl.edu	37	12	132522231	132522231	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr12:132522231G>C	ENST00000333577.4	+	32	6173	c.6064G>C	c.(6064-6066)Gtg>Ctg	p.V2022L	EP400_ENST00000389561.2_Missense_Mutation_p.V1986L|EP400_ENST00000330386.6_Missense_Mutation_p.V1905L|EP400_ENST00000389562.2_Missense_Mutation_p.V1985L|EP400_ENST00000332482.4_Missense_Mutation_p.V1949L			Q96L91	EP400_HUMAN	E1A binding protein p400	2022	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCAGGCTTGTGAGTGGCAA	0.443																																						dbGAP											0													82.0	78.0	79.0					12																	132522231		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6064G>C	12.37:g.132522231G>C	ENSP00000333602:p.Val2022Leu		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V2022L	ENST00000333577.4	37	c.6064		12	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055047	0.55325	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;T	0.92965	-3.14;-3.14;-3.14;-3.14;-1.04	5.15	5.15	0.70609	.	0.063148	0.64402	D	0.000006	D	0.92538	0.7630	L	0.28694	0.88	0.44825	D	0.997831	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.57720	0.826;0.826;0.826	D	0.93675	0.6993	10	0.72032	D	0.01	.	18.6133	0.91294	0.0:0.0:1.0:0.0	.	1986;1905;1985	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	2022;1986;1985;1949;1905;1986	ENSP00000333602:V2022L;ENSP00000374212:V1986L;ENSP00000374213:V1985L;ENSP00000331737:V1949L;ENSP00000330620:V1905L	ENSP00000330620:V1905L	V	+	1	0	EP400	131088184	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.130000	0.94437	2.380000	0.81148	0.650000	0.86243	GTG	EP400	-	pfscan_Helicase_C	ENSG00000183495		0.443	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		48	0.00	0	G	NM_015409		132522231	132522231	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	109	43.81	85	SNP	1.000	C
FGFR2	2263	genome.wustl.edu	37	10	123256149	123256149	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr10:123256149G>C	ENST00000358487.5	-	13	2032	c.1760C>G	c.(1759-1761)tCc>tGc	p.S587C	FGFR2_ENST00000369060.4_Missense_Mutation_p.S471C|FGFR2_ENST00000457416.2_Missense_Mutation_p.S588C|FGFR2_ENST00000357555.5_Missense_Mutation_p.S498C|FGFR2_ENST00000478859.1_Missense_Mutation_p.S359C|FGFR2_ENST00000369059.1_Missense_Mutation_p.S473C|FGFR2_ENST00000356226.4_Missense_Mutation_p.S470C|FGFR2_ENST00000346997.2_Missense_Mutation_p.S585C|FGFR2_ENST00000369061.4_Missense_Mutation_p.S475C|FGFR2_ENST00000369056.1_Missense_Mutation_p.S588C|FGFR2_ENST00000351936.6_Missense_Mutation_p.S585C|FGFR2_ENST00000360144.3_Missense_Mutation_p.S499C	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AATGTCATAGGAGTACTCCAT	0.537		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													189.0	182.0	185.0					10																	123256149		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1760C>G	10.37:g.123256149G>C	ENSP00000351276:p.Ser587Cys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S588C	ENST00000358487.5	37	c.1763	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055940	0.55325	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B;B;B;B	0.32071	0.086;0.07;0.002;0.198;0.001;0.056;0.006;0.355	B;B;B;B;B;B;B;B	0.29942	0.057;0.109;0.002;0.035;0.005;0.022;0.003;0.093	D	0.86873	0.2037	10	0.19590	T	0.45	.	18.9702	0.92712	0.0:0.0:1.0:0.0	.	604;586;498;470;587;499;588;490	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	C	498;588;475;587;470;471;473;179;585;588;585;499;588;588;496	ENSP00000350166:S498C;ENSP00000358057:S475C;ENSP00000351276:S587C;ENSP00000348559:S470C;ENSP00000358056:S471C;ENSP00000358055:S473C;ENSP00000404219:S179C;ENSP00000263451:S585C;ENSP00000410294:S588C;ENSP00000309878:S585C;ENSP00000353262:S499C;ENSP00000358052:S588C;ENSP00000358054:S588C;ENSP00000337665:S496C	ENSP00000337665:S496C	S	-	2	0	FGFR2	123246139	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.884000	0.87274	2.464000	0.83262	0.549000	0.68633	TCC	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066468		0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	341	0.00	0	G	NM_022976, NM_000141		123256149	123256149	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	292	26.45	105	SNP	1.000	C
GCH1	2643	genome.wustl.edu	37	14	55310747	55310747	+	Silent	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr14:55310747G>A	ENST00000491895.2	-	6	929	c.741C>T	c.(739-741)ctC>ctT	p.L247L	GCH1_ENST00000536224.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Silent_p.L247L|GCH1_ENST00000543643.2_Intron	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	247					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						AGCTCCTAATGAGAGTCAGGA	0.478																																					Pancreas(198;1245 2204 4807 21567 38372)	dbGAP											0													189.0	147.0	161.0					14																	55310747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.741C>T	14.37:g.55310747G>A			Q6FHY7|Q9Y4I8	Silent	SNP	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I	p.L247	ENST00000491895.2	37	c.741	CCDS9720.1	14																																																																																			GCH1	-	tigrfam_GTP_CycHdrlase_I	ENSG00000131979		0.478	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	603	0.16	1	G			55310747	55310747	-1	no_errors	ENST00000395514	ensembl	human	known	69_37n	silent	304	19.58	74	SNP	1.000	A
GIMAP5	55340	genome.wustl.edu	37	7	150440110	150440111	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr7:150440110_150440111insT	ENST00000358647.3	+	3	1250_1251	c.883_884insT	c.(883-885)cttfs	p.L295fs	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	295					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAGCATACTTTTTTTCATT	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.890dupT	7.37:g.150440117_150440117dupT	ENSP00000351473:p.Leu295fs		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Frame_Shift_Ins	INS	pfam_AIG1	p.I298fs	ENST00000358647.3	37	c.883_884	CCDS5907.1	7																																																																																			GIMAP5	-	NULL	ENSG00000196329		0.371	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP5	HGNC	protein_coding	OTTHUMT00000349108.2	245	0.00	0	-	NM_018384		150440110	150440111	+1	no_errors	ENST00000358647	ensembl	human	known	69_37n	frame_shift_ins	236	23.13	71	INS	0.000:0.002	T
GNE	10020	genome.wustl.edu	37	9	36217532	36217532	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr9:36217532G>T	ENST00000539815.1	-	11	2039	c.1999C>A	c.(1999-2001)Ctc>Atc	p.L667I	GNE_ENST00000447283.2_Missense_Mutation_p.L593I|GNE_ENST00000377902.5_Missense_Mutation_p.L667I|GNE_ENST00000539208.1_Missense_Mutation_p.L557I|GNE_ENST00000396594.3_Missense_Mutation_p.L698I|GNE_ENST00000543356.2_Missense_Mutation_p.L662I			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	667	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACTCCGGAGAGGATCACAAGG	0.502																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0													101.0	81.0	88.0					9																	36217532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1999C>A	9.37:g.36217532G>T	ENSP00000439155:p.Leu667Ile		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.L698I	ENST00000539815.1	37	c.2092	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120712	0.77436	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99519	-4.97;-4.97;-4.97;-4.97;-6.07	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	L	0.43598	1.365	0.58432	D	0.999999	D;D;D;D;P	0.89917	0.999;1.0;0.998;0.999;0.956	D;D;D;D;P	0.83275	0.994;0.996;0.996;0.991;0.899	D	0.97468	1.0039	10	0.14252	T	0.57	-29.3492	10.1943	0.43045	0.0907:0.0:0.9093:0.0	.	557;626;698;667;593	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	I	667;698;662;667;639;557;593	ENSP00000367134:L667I;ENSP00000379839:L698I;ENSP00000439155:L667I;ENSP00000445117:L557I;ENSP00000414760:L593I	ENSP00000340770:L662I	L	-	1	0	GNE	36207532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.397000	0.66302	2.543000	0.85770	0.561000	0.74099	CTC	GNE	-	NULL	ENSG00000159921		0.502	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	150	0.00	0	G	NM_005476		36217532	36217532	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	missense	132	19.02	31	SNP	1.000	T
GPD1L	23171	genome.wustl.edu	37	3	32180207	32180207	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr3:32180207C>T	ENST00000282541.5	+	3	555	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	118					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						CGCTGGGAATCACCCTCATCA	0.488																																						dbGAP											0													94.0	87.0	90.0					3																	32180207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.354C>T	3.37:g.32180207C>T			A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	NULL	p.S59L	ENST00000282541.5	37	c.176	CCDS33729.1	3																																																																																			GPD1L	-	NULL	ENSG00000152642		0.488	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1L	HGNC	protein_coding	OTTHUMT00000341975.2	202	0.00	0	C	NM_015141		32180207	32180207	+1	no_errors	ENST00000428684	ensembl	human	known	69_37n	missense	147	27.94	57	SNP	0.999	T
GPR112	139378	genome.wustl.edu	37	X	135455156	135455156	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:135455156G>A	ENST00000394143.1	+	15	8000	c.7709G>A	c.(7708-7710)cGg>cAg	p.R2570Q	GPR112_ENST00000394141.1_Missense_Mutation_p.R2365Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2365Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2570Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2368Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532																																						dbGAP											1	Substitution - Missense(1)	lung(1)											252.0	224.0	234.0					X																	135455156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7709G>A	X.37:g.135455156G>A	ENSP00000377699:p.Arg2570Gln		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R2570Q	ENST00000394143.1	37	c.7709	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961726	0.34659	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30448	1.57;1.57;1.53;1.82;1.53	5.24	2.0	0.26442	.	.	.	.	.	T	0.30916	0.0780	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.999;0.984	P;B	0.58721	0.844;0.44	T	0.08534	-1.0717	9	0.54805	T	0.06	.	5.6308	0.17510	0.408:0.0:0.592:0.0	.	2365;2570	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2570;2570;2365;2368;2365	ENSP00000377699:R2570Q;ENSP00000359686:R2570Q;ENSP00000416526:R2365Q;ENSP00000287534:R2368Q;ENSP00000377697:R2365Q	ENSP00000287534:R2368Q	R	+	2	0	GPR112	135282822	0.040000	0.19996	0.098000	0.21074	0.001000	0.01503	0.080000	0.14802	0.527000	0.28560	-0.911000	0.02809	CGG	GPR112	-	NULL	ENSG00000156920		0.532	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	1076	0.28	3	G			135455156	135455156	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	501	30.13	216	SNP	0.013	A
GPR155	151556	genome.wustl.edu	37	2	175324714	175324714	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr2:175324714C>A	ENST00000392552.2	-	10	1901	c.1663G>T	c.(1663-1665)Gat>Tat	p.D555Y	GPR155_ENST00000295500.4_Missense_Mutation_p.D555Y|GPR155_ENST00000392551.2_Missense_Mutation_p.D555Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	555					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGAGACTGATCGAAACCTTCA	0.488																																						dbGAP											0													112.0	100.0	104.0					2																	175324714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1663G>T	2.37:g.175324714C>A	ENSP00000376335:p.Asp555Tyr		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.D555Y	ENST00000392552.2	37	c.1663	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568968	0.45798	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.46063	0.88;0.88;0.88	5.89	4.0	0.46444	.	0.471664	0.26317	N	0.025063	T	0.39937	0.1097	L	0.29908	0.895	0.35233	D	0.777113	P;P	0.52692	0.955;0.806	P;B	0.53549	0.729;0.251	T	0.51100	-0.8748	10	0.54805	T	0.06	-0.2938	6.9609	0.24597	0.0:0.6567:0.0:0.3433	.	35;555	F5H464;Q7Z3F1	.;GP155_HUMAN	Y	555;35;555;555	ENSP00000376335:D555Y;ENSP00000376334:D555Y;ENSP00000295500:D555Y	ENSP00000295500:D555Y	D	-	1	0	GPR155	175032960	0.857000	0.29778	0.970000	0.41538	0.959000	0.62525	0.531000	0.23052	0.736000	0.32559	0.561000	0.74099	GAT	GPR155	-	NULL	ENSG00000163328		0.488	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	177	0.00	0	C	NM_152529		175324714	175324714	-1	no_errors	ENST00000295500	ensembl	human	known	69_37n	missense	131	15.48	24	SNP	0.990	A
HERC1	8925	genome.wustl.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs		Q8IW65	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q4385fs	ENST00000443617.2	37	c.13154_13153	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	47	0.00	0	-	NM_003922		63918305	63918306	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	frame_shift_ins	18	18.18	4	INS	1.000:1.000	G
KIF18A	81930	genome.wustl.edu	37	11	28119324	28119324	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr11:28119324C>A	ENST00000263181.6	-	2	461	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTGTAGTTTTCTTTCCATGGA	0.303																																						dbGAP											0													75.0	75.0	75.0					11																	28119324		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.171G>T	11.37:g.28119324C>A	ENSP00000263181:p.Lys57Asn		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K57N	ENST00000263181.6	37	c.171	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771316	0.31320	.	.	ENSG00000121621	ENST00000263181	T	0.75050	-0.9	5.53	1.3	0.21679	Kinesin, motor domain (4);	0.140032	0.64402	D	0.000004	T	0.57755	0.2075	L	0.28694	0.88	0.33898	D	0.638133	B;B	0.28208	0.203;0.203	B;B	0.28232	0.087;0.087	T	0.58463	-0.7632	10	0.42905	T	0.14	.	6.8324	0.23917	0.251:0.615:0.0:0.1339	.	57;57	B2R6H3;Q8NI77	.;KI18A_HUMAN	N	57	ENSP00000263181:K57N	ENSP00000263181:K57N	K	-	3	2	KIF18A	28075900	1.000000	0.71417	0.991000	0.47740	0.758000	0.43043	1.381000	0.34362	0.387000	0.25024	0.650000	0.86243	AAG	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000121621		0.303	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	191	0.00	0	C	NM_031217		28119324	28119324	-1	no_errors	ENST00000263181	ensembl	human	known	69_37n	missense	165	18.72	38	SNP	0.998	A
MACROD2	140733	genome.wustl.edu	37	20	15866446	15866446	+	Silent	SNP	A	A	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr20:15866446A>G	ENST00000310348.4	+	10	765	c.765A>G	c.(763-765)aaA>aaG	p.K255K	MACROD2_ENST00000217246.4_Silent_p.K255K|MACROD2_ENST00000378058.3_Silent_p.K20K|MACROD2_ENST00000402914.1_Silent_p.K20K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	255	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTGAAATGAAAGAAGATTCAG	0.289																																						dbGAP											0													82.0	98.0	92.0					20																	15866446		2195	4294	6489	-	-	-	SO:0001819	synonymous_variant	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.765A>G	20.37:g.15866446A>G			A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.K255	ENST00000310348.4	37	c.765	CCDS13120.2	20																																																																																			MACROD2	-	NULL	ENSG00000172264		0.289	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		534	0.00	0	A	NM_080676		15866446	15866446	+1	no_errors	ENST00000310348	ensembl	human	known	69_37n	silent	297	24.75	98	SNP	0.999	G
MAGEA11	4110	genome.wustl.edu	37	X	148798418	148798419	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:148798418_148798419delGG	ENST00000355220.5	+	5	1374_1375	c.1272_1273delGG	c.(1270-1275)gaggagfs	p.EE424fs	MAGEA11_ENST00000333104.4_Frame_Shift_Del_p.EE395fs	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	424						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTTTGAGAGAGGAGGGAGAGGG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1272_1273delGG	X.37:g.148798418_148798419delGG	ENSP00000347358:p.Glu424fs		Q5ETU4|Q6ZRZ5	Frame_Shift_Del	DEL	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E425fs	ENST00000355220.5	37	c.1272_1273	CCDS48180.1	X																																																																																			MAGEA11	-	NULL	ENSG00000185247		0.545	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	162	0.00	0	GG	NM_005366		148798418	148798419	+1	no_errors	ENST00000355220	ensembl	human	known	69_37n	frame_shift_del	77	65.00	143	DEL	0.001:0.004	-
MAP4K4	9448	genome.wustl.edu	37	2	102504327	102504327	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr2:102504327G>T	ENST00000347699.4	+	28	3424	c.3424G>T	c.(3424-3426)Gtt>Ttt	p.V1142F	MAP4K4_ENST00000350878.4_Missense_Mutation_p.V1182F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.V1069F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.V945F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.V1223F|MAP4K4_ENST00000413150.2_Missense_Mutation_p.V1057F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.V1175F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.V941F	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1142	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGATGAGGGGGTTTATGTAAA	0.463																																						dbGAP											0													207.0	197.0	200.0					2																	102504327		1944	4149	6093	-	-	-	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3424G>T	2.37:g.102504327G>T	ENSP00000314363:p.Val1142Phe		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.V1223F	ENST00000347699.4	37	c.3667	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.925221|4.925221	0.92319|0.92319	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T|T;T;T;T;T;T;T;T;T	0.04551|0.06294	3.6|3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Citron-like (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.20373|0.20373	0.0490|0.0490	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;D;D;P;D	.|0.89917	.|0.996;0.996;1.0;0.465;0.994;0.568;0.997;0.994;0.887;0.999	.|D;D;D;B;D;P;D;D;P;D	.|0.83275	.|0.992;0.992;0.996;0.251;0.986;0.678;0.968;0.986;0.749;0.972	T|T	0.00318|0.00318	-1.1821|-1.1821	7|10	0.87932|0.66056	D|D	0|0.02	.|.	19.0222|19.0222	0.92920|0.92920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1182;1138;941;945;1068;1142;1175;1069;1114;1223	.|B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.|.;.;.;.;.;M4K4_HUMAN;.;.;.;.	V|F	958|1175;1223;1069;945;1057;941;1142;1073;1182	ENSP00000396066:G958V|ENSP00000392830:V1175F;ENSP00000313644:V1223F;ENSP00000281111:V1069F;ENSP00000303600:V945F;ENSP00000389752:V1057F;ENSP00000387370:V941F;ENSP00000314363:V1142F;ENSP00000409720:V1073F;ENSP00000343658:V1182F	ENSP00000396066:G958V|ENSP00000303600:V945F	G|V	+|+	2|1	0|0	MAP4K4|MAP4K4	101870759|101870759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.754000|9.754000	0.98908|0.98908	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	GGT|GTT	MAP4K4	-	pfam_Citron,smart_Citron	ENSG00000071054		0.463	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	380	0.00	0	G	NM_004834		102504327	102504327	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	242	20.13	61	SNP	1.000	T
MBNL1	4154	genome.wustl.edu	37	3	152150507	152150507	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr3:152150507C>T	ENST00000463374.1	+	3	858	c.347C>T	c.(346-348)cCa>cTa	p.P116L	MBNL1_ENST00000324196.5_Splice_Site_p.P116L|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Splice_Site_p.P116L|MBNL1_ENST00000492948.1_Splice_Site_p.P116L|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Splice_Site_p.P59L|MBNL1_ENST00000355460.2_Splice_Site_p.P116L|MBNL1_ENST00000282486.6_Splice_Site_p.P116L|MBNL1_ENST00000485509.1_Splice_Site_p.P116L|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Splice_Site_p.P116L|MBNL1_ENST00000498502.1_Splice_Site_p.P116L	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	116					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTTTTCAGCCAATGTTTTCA	0.418																																						dbGAP											0													112.0	128.0	123.0					3																	152150507		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.346-1C>T	3.37:g.152150507C>T			E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q115*	ENST00000463374.1	37	c.343	CCDS3165.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.327926|4.327926	0.81690|0.81690	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.050285|.	0.85682|.	D|.	0.000000|.	T|.	0.73171|.	0.3553|.	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.28552|.	0.215;0.066;0.041;0.215;0.061;0.108;0.202|.	B;B;B;B;B;B;B|.	0.35550|.	0.146;0.046;0.036;0.101;0.101;0.089;0.205|.	T|.	0.72297|.	-0.4335|.	10|.	0.72032|.	D|.	0.01|.	.|.	18.3327|18.3327	0.90276|0.90276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;116;116;59;116;116|.	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92|.	.;.;MBNL1_HUMAN;.;.;.;.|.	L|X	116;116;24;59;116;24;116;116;116;116;116;116;19|115	ENSP00000282486:P116L;ENSP00000347637:P116L;ENSP00000417741:P24L;ENSP00000419347:P59L;ENSP00000319429:P116L;ENSP00000420680:P24L;ENSP00000420327:P116L;ENSP00000319374:P116L;ENSP00000350064:P116L;ENSP00000418108:P116L;ENSP00000420103:P116L;ENSP00000418876:P116L|.	ENSP00000282486:P116L|.	P|Q	+|+	2|1	0|0	MBNL1|MBNL1	153633197|153633197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.862000|6.862000	0.75484|0.75484	2.396000|2.396000	0.81511|0.81511	0.563000|0.563000	0.77884|0.77884	CCA|CAA	MBNL1	-	NULL	ENSG00000152601		0.418	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	566	0.00	0	C	NM_021038	Missense_Mutation	152150507	152150507	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000464596	ensembl	human	novel	69_37n	nonsense	265	25.56	91	SNP	1.000	T
MCTP1	79772	genome.wustl.edu	37	5	94620064	94620064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr5:94620064delA	ENST00000515393.1	-	1	215	c.216delT	c.(214-216)agtfs	p.S72fs		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	72					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCTGCACCACTCCCCCTGG	0.721																																						dbGAP											0													17.0	16.0	17.0					5																	94620064		2149	4207	6356	-	-	-	SO:0001589	frameshift_variant	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.216delT	5.37:g.94620064delA	ENSP00000424126:p.Ser72fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.S72fs	ENST00000515393.1	37	c.216	CCDS34203.1	5																																																																																			MCTP1	-	NULL	ENSG00000175471		0.721	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	12	0.00	0	A	NM_024717		94620064	94620064	-1	no_errors	ENST00000515393	ensembl	human	known	69_37n	frame_shift_del	2	40.00	2	DEL	0.000	-
CXorf57	55086	genome.wustl.edu	37	X	105883114	105883115	+	Intron	INS	-	-	C			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chrX:105883114_105883115insC	ENST00000372548.4	+	9	1843				CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57								poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						aattccttttgcaccaacctaa	0.351																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1734+197->C	X.37:g.105883115_105883115dupC			H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	RNA	INS	-	NULL	ENST00000372548.4	37	NULL	CCDS14519.1	X																																																																																			MIR548AN	-	-	ENSG00000263515		0.351	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548AN	HGNC	protein_coding	OTTHUMT00000057800.2	23	0.00	0	-	NM_018015		105883114	105883115	+1	no_errors	ENST00000408286	ensembl	human	known	69_37n	rna	13	31.58	6	INS	0.050:0.054	C
MYLK2	85366	genome.wustl.edu	37	20	30419874	30419874	+	Missense_Mutation	SNP	C	C	T	rs540151040		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr20:30419874C>T	ENST00000375994.2	+	11	1918	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.R549C			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	549					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAAGCCAAACGCTGTAACCG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19963	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													47.0	37.0	41.0					20																	30419874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1645C>T	20.37:g.30419874C>T	ENSP00000365162:p.Arg549Cys		Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R549C	ENST00000375994.2	37	c.1645	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757840	0.69648	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.41758	0.99;0.99	4.88	4.88	0.63580	Protein kinase-like domain (1);	.	.	.	.	T	0.48732	0.1516	L	0.29908	0.895	0.47341	D	0.999399	D	0.89917	1.0	D	0.63703	0.917	T	0.49476	-0.8936	9	0.72032	D	0.01	.	12.3212	0.54985	0.1687:0.8313:0.0:0.0	.	549	Q9H1R3	MYLK2_HUMAN	C	549	ENSP00000365162:R549C;ENSP00000365152:R549C	ENSP00000365152:R549C	R	+	1	0	MYLK2	29883535	0.999000	0.42202	1.000000	0.80357	0.949000	0.60115	0.856000	0.27818	2.546000	0.85860	0.643000	0.83706	CGC	MYLK2	-	superfamily_Kinase-like_dom	ENSG00000101306		0.602	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	19	0.00	0	C	NM_033118		30419874	30419874	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	T
NOP2	4839	genome.wustl.edu	37	12	6672822	6672822	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr12:6672822C>T	ENST00000322166.5	-	7	767	c.646G>A	c.(646-648)Gag>Aag	p.E216K	NOP2_ENST00000541778.1_Missense_Mutation_p.E212K|NOP2_ENST00000382421.3_Missense_Mutation_p.E249K|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.E212K|NOP2_ENST00000537442.1_Missense_Mutation_p.E216K|NOP2_ENST00000545200.1_Missense_Mutation_p.E212K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	216					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AATGGTTCCTCATCCACATTG	0.572											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													49.0	51.0	50.0					12																	6672822		1970	4140	6110	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.646G>A	12.37:g.6672822C>T	ENSP00000313272:p.Glu216Lys	635	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.E216K	ENST00000322166.5	37	c.646	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816745	0.50633	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867	T;T;T;T;T;T;T;T	0.56275	2.39;2.39;2.44;2.39;2.39;2.39;0.81;0.47	5.84	3.65	0.41850	.	0.524779	0.21862	N	0.068015	T	0.41766	0.1173	L	0.42581	1.335	0.80722	D	1	B;B	0.20988	0.029;0.05	B;B	0.20184	0.028;0.026	T	0.28586	-1.0039	10	0.32370	T	0.25	-22.58	8.9525	0.35799	0.0:0.7306:0.1538:0.1156	.	249;212	Q3KQS4;P46087-2	.;.	K	216;249;212;212;216;212;92;212	ENSP00000444437:E216K;ENSP00000371858:E249K;ENSP00000439422:E212K;ENSP00000382392:E212K;ENSP00000313272:E216K;ENSP00000443150:E212K;ENSP00000440754:E92K;ENSP00000443035:E212K	ENSP00000313272:E216K	E	-	1	0	NOP2	6543083	0.021000	0.18746	0.930000	0.37139	0.797000	0.45037	0.935000	0.28924	1.438000	0.47492	0.563000	0.77884	GAG	NOP2	-	NULL	ENSG00000111641		0.572	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	86	0.00	0	C	NM_006170		6672822	6672822	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	72	13.10	11	SNP	0.919	T
OR10H1	26539	genome.wustl.edu	37	19	15918448	15918448	+	Missense_Mutation	SNP	C	C	T	rs141400861		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr19:15918448C>T	ENST00000334920.2	-	1	488	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V134M(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CTCATGAGCACGTTGTAGCGC	0.642																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											75.0	61.0	66.0					19																	15918448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.400G>A	19.37:g.15918448C>T	ENSP00000335596:p.Val134Met		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V134M	ENST00000334920.2	37	c.400	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323277	0.24080	.	.	ENSG00000186723	ENST00000334920	T	0.03607	3.87	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000407	T	0.06096	0.0158	M	0.62016	1.91	0.09310	N	1	P	0.42827	0.791	B	0.40038	0.317	T	0.23084	-1.0198	10	0.56958	D	0.05	.	10.9328	0.47228	0.0:0.8092:0.1908:0.0	.	134	Q9Y4A9	O10H1_HUMAN	M	134	ENSP00000335596:V134M	ENSP00000335596:V134M	V	-	1	0	OR10H1	15779448	0.000000	0.05858	0.780000	0.31762	0.584000	0.36387	-0.104000	0.10923	2.111000	0.64477	0.643000	0.83706	GTG	OR10H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186723		0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	87	0.00	0	C			15918448	15918448	-1	no_errors	ENST00000334920	ensembl	human	known	69_37n	missense	82	23.36	25	SNP	0.128	T
OR4K1	79544	genome.wustl.edu	37	14	20404131	20404131	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr14:20404131C>T	ENST00000285600.4	+	1	365	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCCAGATATTCGTTCTTCACA	0.413																																						dbGAP											0													146.0	145.0	145.0					14																	20404131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.306C>T	14.37:g.20404131C>T			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F102	ENST00000285600.4	37	c.306	CCDS32025.1	14																																																																																			OR4K1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000155249		0.413	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	716	0.00	0	C			20404131	20404131	+1	no_errors	ENST00000285600	ensembl	human	known	69_37n	silent	460	11.49	60	SNP	0.037	T
PLCE1	51196	genome.wustl.edu	37	10	96018635	96018635	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr10:96018635C>T	ENST00000371380.3	+	11	3868	c.3633C>T	c.(3631-3633)agC>agT	p.S1211S	PLCE1_ENST00000260766.3_Silent_p.S1211S|PLCE1_ENST00000371385.3_Silent_p.S903S|PLCE1_ENST00000371375.1_Silent_p.S903S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1211					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S1211R(1)|p.S903R(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCAGATAGCAACATGAGTT	0.443																																						dbGAP											2	Substitution - Missense(2)	lung(2)											197.0	187.0	190.0					10																	96018635		1918	4134	6052	-	-	-	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3633C>T	10.37:g.96018635C>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S1211	ENST00000371380.3	37	c.3633	CCDS41552.1	10																																																																																			PLCE1	-	NULL	ENSG00000138193		0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	283	0.00	0	C	NM_016341		96018635	96018635	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	silent	172	25.22	58	SNP	0.993	T
PNN	5411	genome.wustl.edu	37	14	39648666	39648666	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr14:39648666G>A	ENST00000216832.4	+	8	860	c.793G>A	c.(793-795)Gct>Act	p.A265T	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	265	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAAATGAACGGTAAGTATGC	0.338																																						dbGAP											0													55.0	58.0	57.0					14																	39648666		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.793+1G>A	14.37:g.39648666G>A			B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.A265T	ENST00000216832.4	37	c.793	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038163	0.75617	.	.	ENSG00000100941	ENST00000216832	T	0.35421	1.31	5.65	5.65	0.86999	.	0.151340	0.56097	D	0.000021	T	0.32346	0.0826	L	0.56769	1.78	0.80722	D	1	P	0.48998	0.918	B	0.30855	0.121	T	0.24905	-1.0147	10	0.30854	T	0.27	-3.7917	19.7219	0.96145	0.0:0.0:1.0:0.0	.	265	Q9H307	PININ_HUMAN	T	265	ENSP00000216832:A265T	ENSP00000216832:A265T	A	+	1	0	PNN	38718417	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.226000	0.95229	2.644000	0.89710	0.563000	0.77884	GCT	PNN	-	NULL	ENSG00000100941		0.338	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	58	0.00	0	G	NM_002687	Missense_Mutation	39648666	39648666	+1	no_errors	ENST00000216832	ensembl	human	known	69_37n	missense	91	19.47	22	SNP	1.000	A
PPM1L	151742	genome.wustl.edu	37	3	160783285	160783285	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr3:160783285C>T	ENST00000498165.1	+	3	770	c.669C>T	c.(667-669)aaC>aaT	p.N223N	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.N44N|PPM1L_ENST00000295839.9_Silent_p.N96N	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	223	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGATGGGAACGCTATTCCTT	0.483																																					Pancreas(86;250 1994 13715 43211)	dbGAP											0													120.0	112.0	114.0					3																	160783285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.669C>T	3.37:g.160783285C>T			Q2M3J2|Q96NM7	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.N223	ENST00000498165.1	37	c.669	CCDS33886.1	3																																																																																			PPM1L	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000163590		0.483	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1L	HGNC	protein_coding	OTTHUMT00000353019.1	314	0.32	1	C	NM_139245		160783285	160783285	+1	no_errors	ENST00000498165	ensembl	human	known	69_37n	silent	209	23.16	63	SNP	0.796	T
PPP2R5B	5526	genome.wustl.edu	37	11	64695334	64695334	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr11:64695334G>C	ENST00000164133.2	+	4	1079	c.457G>C	c.(457-459)Gag>Cag	p.E153Q		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	153					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TGACCCTGAAGAGGATGAGCC	0.522																																						dbGAP											0													91.0	86.0	88.0					11																	64695334		2201	4297	6498	-	-	-	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.457G>C	11.37:g.64695334G>C	ENSP00000164133:p.Glu153Gln		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E153Q	ENST00000164133.2	37	c.457	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585179	0.86748	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.51	3.51	0.40186	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.90545	0.4505	9	0.87932	D	0	-25.3003	13.3646	0.60676	0.0:0.0:1.0:0.0	.	153	Q15173	2A5B_HUMAN	Q	153;153;180;67;153	.	ENSP00000164133:E153Q	E	+	1	0	PPP2R5B	64451910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.024000	0.93689	2.284000	0.76573	0.561000	0.74099	GAG	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.522	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	52	0.00	0	G	NM_006244		64695334	64695334	+1	no_errors	ENST00000164133	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	1.000	C
PRMT5	10419	genome.wustl.edu	37	14	23395473	23395473	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr14:23395473G>A	ENST00000324366.8	-	7	869	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.H155Y|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.H199Y|PRMT5_ENST00000553897.1_Missense_Mutation_p.H172Y|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.H110Y	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	216	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCAATGACATGATTAGATGGG	0.473																																						dbGAP											0													84.0	88.0	87.0					14																	23395473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.646C>T	14.37:g.23395473G>A	ENSP00000319169:p.His216Tyr		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.H216Y	ENST00000324366.8	37	c.646	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026594	0.54683	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.37	5.37	0.77165	.	0.179025	0.52532	D	0.000067	T	0.50956	0.1646	N	0.25890	0.77	0.40006	D	0.975229	P;P;P;P	0.39282	0.461;0.516;0.614;0.666	B;B;B;B	0.41917	0.092;0.117;0.37;0.149	T	0.50988	-0.8762	9	0.36615	T	0.2	-16.3325	18.2366	0.89951	0.0:0.0:1.0:0.0	.	172;155;216;199	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	Y	216;199;155;110;172;111;171;178	.	ENSP00000216350:H155Y	H	-	1	0	PRMT5	22465313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.803000	0.47924	2.666000	0.90696	0.561000	0.74099	CAT	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	297	0.67	2	G			23395473	23395473	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	256	20.19	65	SNP	1.000	A
PRR21	643905	genome.wustl.edu	37	2	240982243	240982243	+	Missense_Mutation	SNP	G	G	A	rs80033040	byFrequency	TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr2:240982243G>A	ENST00000408934.1	-	1	156	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	53	Pro-rich.							p.R53W(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGCCGTGGATGAAGG	0.582																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											121.0	107.0	112.0					2																	240982243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.157C>T	2.37:g.240982243G>A	ENSP00000386166:p.Arg53Trp			Missense_Mutation	SNP	NULL	p.R53W	ENST00000408934.1	37	c.157	CCDS33417.1	2	.	.	.	.	.	.	.	.	.	.	N	7.137	0.581093	0.13686	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.19	-1.7	0.08159	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.56958	D	0.05	.	2.7336	0.05234	0.2267:0.299:0.4742:0.0	.	53	Q8WXC7	PRR21_HUMAN	W	53	ENSP00000386166:R53W;ENSP00000418240:R53W	ENSP00000386166:R53W	R	-	1	2	PRR21	240630916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.428000	0.07339	-0.481000	0.04817	CGG	PRR21	-	NULL	ENSG00000221961		0.582	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	HGNC	protein_coding		27	0.00	0	G	NM_001080835		240982243	240982243	-1	no_errors	ENST00000408934	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	0.000	A
RAB30	27314	genome.wustl.edu	37	11	82693237	82693237	+	Silent	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr11:82693237G>A	ENST00000533486.1	-	6	866	c.582C>T	c.(580-582)atC>atT	p.I194I	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.I194I|RAB30_ENST00000260056.2_Silent_p.I194I|RAB30_ENST00000534141.1_3'UTR	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	194					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAAATAGCTGATGCTTTTCC	0.468																																						dbGAP											0													148.0	130.0	136.0					11																	82693237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.582C>T	11.37:g.82693237G>A			Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I194	ENST00000533486.1	37	c.582	CCDS8264.1	11																																																																																			RAB30	-	smart_Ran_GTPase	ENSG00000137502		0.468	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB30	HGNC	protein_coding	OTTHUMT00000392141.1	154	0.00	0	G	NM_014488		82693237	82693237	-1	no_errors	ENST00000260056	ensembl	human	known	69_37n	silent	104	30.20	45	SNP	1.000	A
RGS9	8787	genome.wustl.edu	37	17	63185416	63185416	+	Missense_Mutation	SNP	G	G	A	rs570957320		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr17:63185416G>A	ENST00000262406.9	+	10	734	c.667G>A	c.(667-669)Gtt>Att	p.V223I	RGS9_ENST00000449996.3_Missense_Mutation_p.V220I|RGS9_ENST00000443584.3_Missense_Mutation_p.V220I	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	223	G protein gamma.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACAAACAGTCGTTGCTGTCAA	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		19471	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													97.0	97.0	97.0					17																	63185416		1847	4088	5935	-	-	-	SO:0001583	missense	0			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.667G>A	17.37:g.63185416G>A	ENSP00000262406:p.Val223Ile		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V223I	ENST00000262406.9	37	c.667	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646481	0.14451	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T	0.21543	2.0;2.0	5.31	-5.4	0.02656	G-protein gamma domain (3);	0.850130	0.10494	N	0.668035	T	0.08980	0.0222	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30605	0.126;0.287;0.244	B;B;B	0.24269	0.025;0.052;0.031	T	0.21690	-1.0238	10	0.56958	D	0.05	.	2.0983	0.03674	0.4857:0.1919:0.2172:0.1052	.	223;223;220	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	I	223;220;223	ENSP00000262406:V223I;ENSP00000396329:V220I	ENSP00000262406:V223I	V	+	1	0	RGS9	60615878	0.000000	0.05858	0.008000	0.14137	0.764000	0.43329	-0.211000	0.09332	-0.794000	0.04468	-2.061000	0.00397	GTT	RGS9	-	superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom	ENSG00000108370		0.353	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	76	0.00	0	G	NM_003835		63185416	63185416	+1	no_errors	ENST00000262406	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.002	A
SCFD1	23256	genome.wustl.edu	37	14	31144222	31144222	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr14:31144222T>G	ENST00000458591.2	+	14	1420	c.1193T>G	c.(1192-1194)cTt>cGt	p.L398R	SCFD1_ENST00000421551.3_Missense_Mutation_p.L339R|SCFD1_ENST00000396629.2_Missense_Mutation_p.L306R|SCFD1_ENST00000544052.2_Missense_Mutation_p.L331R|SCFD1_ENST00000541123.1_Missense_Mutation_p.L213R	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	398					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAAAAAAGACTTATTGATCTC	0.308																																						dbGAP											0													71.0	72.0	72.0					14																	31144222		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1193T>G	14.37:g.31144222T>G	ENSP00000390783:p.Leu398Arg		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L398R	ENST00000458591.2	37	c.1193	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984797	0.74474	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	M	0.79693	2.465	0.80722	D	1	B;P;P;B	0.41710	0.108;0.555;0.76;0.405	B;B;P;B	0.45449	0.3;0.301;0.481;0.301	D	0.85506	0.1194	10	0.87932	D	0	-31.3158	15.0021	0.71483	0.0:0.0:0.0:1.0	.	339;331;306;398	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	R	398;331;339;213;306	ENSP00000390783:L398R;ENSP00000443010:L331R;ENSP00000388078:L339R;ENSP00000443537:L213R;ENSP00000379870:L306R	ENSP00000309417:L406R	L	+	2	0	SCFD1	30213973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.848000	0.75409	1.932000	0.55993	0.477000	0.44152	CTT	SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.308	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	212	0.00	0	T	NM_182835		31144222	31144222	+1	no_errors	ENST00000458591	ensembl	human	known	69_37n	missense	124	19.87	31	SNP	1.000	G
SCNM1	79005	genome.wustl.edu	37	1	151138644	151138644	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr1:151138644G>A	ENST00000368905.4	+	1	127	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	LYSMD1_ENST00000440902.2_5'Flank|LYSMD1_ENST00000368908.5_5'Flank|SCNM1_ENST00000461862.1_3'UTR	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	6					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAAGAGGGAAGGAGACGA	0.542																																						dbGAP											0													86.0	80.0	82.0					1																	151138644		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.16G>A	1.37:g.151138644G>A	ENSP00000357901:p.Glu6Lys		B4DWR1|Q5JR74	Missense_Mutation	SNP	NULL	p.E6K	ENST00000368905.4	37	c.16	CCDS987.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.528444	0.96446	.	.	ENSG00000163156	ENST00000368905	.	.	.	4.76	4.76	0.60689	.	0.049206	0.85682	D	0.000000	T	0.70640	0.3247	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.72547	-0.4260	9	0.62326	D	0.03	-15.0258	15.1416	0.72615	0.0:0.0:1.0:0.0	.	6;6	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	K	6	.	ENSP00000357901:E6K	E	+	1	0	SCNM1	149405268	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.117000	0.77129	2.633000	0.89246	0.455000	0.32223	GAA	SCNM1	-	NULL	ENSG00000163156		0.542	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	13	0.00	0	G	NM_024041		151138644	151138644	+1	no_errors	ENST00000368905	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	A
SEL1L3	23231	genome.wustl.edu	37	4	25831746	25831746	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr4:25831746C>G	ENST00000399878.3	-	6	1253	c.1131G>C	c.(1129-1131)ttG>ttC	p.L377F	SEL1L3_ENST00000502949.1_Missense_Mutation_p.L224F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.L342F|SEL1L3_ENST00000513364.1_5'Flank	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	377						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GGTAGCTTTTCAAATCCTGTC	0.398																																						dbGAP											0													130.0	122.0	125.0					4																	25831746		1903	4125	6028	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1131G>C	4.37:g.25831746C>G	ENSP00000382767:p.Leu377Phe		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.L377F	ENST00000399878.3	37	c.1131	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827368	0.50845	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.21191	2.02;2.02;2.02	5.51	4.66	0.58398	.	0.244490	0.33916	N	0.004436	T	0.39784	0.1091	M	0.64997	1.995	0.35831	D	0.825309	D	0.76494	0.999	D	0.69654	0.965	T	0.49234	-0.8961	10	0.72032	D	0.01	-14.1465	10.6257	0.45506	0.0:0.9092:0.0:0.0908	.	377	Q68CR1	SE1L3_HUMAN	F	377;342;224	ENSP00000382767:L377F;ENSP00000264868:L342F;ENSP00000425438:L224F	ENSP00000264868:L342F	L	-	3	2	SEL1L3	25440844	1.000000	0.71417	0.916000	0.36221	0.409000	0.31022	1.931000	0.40134	2.575000	0.86900	0.655000	0.94253	TTG	SEL1L3	-	superfamily_ConA-like_lec_gl	ENSG00000091490		0.398	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	80	0.00	0	C	NM_015187		25831746	25831746	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	48	26.87	18	SNP	0.999	G
STAT4	6775	genome.wustl.edu	37	2	191919242	191919242	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr2:191919242A>G	ENST00000392320.2	-	14	1539	c.1225T>C	c.(1225-1227)Tcc>Ccc	p.S409P	STAT4_ENST00000358470.4_Missense_Mutation_p.S409P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	409					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCAGCACTGGACTTCATTTCC	0.323																																						dbGAP											0													107.0	116.0	113.0					2																	191919242		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1225T>C	2.37:g.191919242A>G	ENSP00000376134:p.Ser409Pro		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.S409P	ENST00000392320.2	37	c.1225	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318082	0.40996	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.77229	-1.08;-1.08	5.0	5.0	0.66597	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.368200	0.28198	N	0.016221	T	0.68128	0.2967	L	0.45137	1.4	0.80722	D	1	P;P;P	0.35821	0.523;0.523;0.523	B;B;B	0.33392	0.163;0.163;0.163	T	0.68918	-0.5282	10	0.45353	T	0.12	-0.68	9.8829	0.41245	0.8287:0.1713:0.0:0.0	.	318;409;409	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	P	409	ENSP00000351255:S409P;ENSP00000376134:S409P	ENSP00000351255:S409P	S	-	1	0	STAT4	191627487	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.483000	0.53194	1.877000	0.54381	0.260000	0.18958	TCC	STAT4	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000138378		0.323	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	446	0.22	1	A	NM_003151		191919242	191919242	-1	no_errors	ENST00000358470	ensembl	human	known	69_37n	missense	241	24.92	80	SNP	1.000	G
STAU1	6780	genome.wustl.edu	37	20	47734890	47734890	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr20:47734890G>A	ENST00000371856.2	-	10	1579	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	STAU1_ENST00000371828.3_Missense_Mutation_p.S315F|STAU1_ENST00000371792.1_Missense_Mutation_p.S307F|STAU1_ENST00000360426.4_Missense_Mutation_p.S309F|STAU1_ENST00000347458.5_Missense_Mutation_p.S309F|STAU1_ENST00000340954.7_Missense_Mutation_p.S309F|STAU1_ENST00000371802.1_Missense_Mutation_p.S315F	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	390				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2). {ECO:0000305}.	intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTCATCCCCAGAGCCAGGTTC	0.413																																						dbGAP											0													123.0	116.0	119.0					20																	47734890		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1169C>T	20.37:g.47734890G>A	ENSP00000360922:p.Ser390Phe		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.S390F	ENST00000371856.2	37	c.1169	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356897	0.61293	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.34472	1.37;1.36;1.37;1.36;1.36;1.37;1.36	5.81	3.71	0.42584	.	0.269175	0.44483	D	0.000456	T	0.34832	0.0911	L	0.47716	1.5	0.52501	D	0.999957	B;B	0.32010	0.351;0.351	B;B	0.32289	0.11;0.143	T	0.38373	-0.9664	10	0.72032	D	0.01	-0.6734	16.2649	0.82571	0.0:0.2674:0.7326:0.0	.	390;315	O95793;Q5JW29	STAU1_HUMAN;.	F	315;309;390;309;309;309;315;307	ENSP00000360893:S315F;ENSP00000345425:S309F;ENSP00000360922:S390F;ENSP00000353604:S309F;ENSP00000323443:S309F;ENSP00000360867:S315F;ENSP00000360857:S307F	ENSP00000345425:S309F	S	-	2	0	STAU1	47168297	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.949000	0.40313	1.409000	0.46915	0.650000	0.86243	TCT	STAU1	-	NULL	ENSG00000124214		0.413	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	66	0.00	0	G	NM_017453		47734890	47734890	-1	no_errors	ENST00000371856	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113312283	113312283	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr9:113312283C>T	ENST00000401783.2	-	2	969	c.633G>A	c.(631-633)ctG>ctA	p.L211L	SVEP1_ENST00000302728.8_Silent_p.L211L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.L188L|SVEP1_ENST00000374461.1_Silent_p.L188L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	211	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGAATCTCGCAGTGACGCTG	0.453																																						dbGAP											0													145.0	141.0	142.0					9																	113312283		1942	4158	6100	-	-	-	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.633G>A	9.37:g.113312283C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L211	ENST00000401783.2	37	c.633	CCDS48004.1	9																																																																																			SVEP1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165124		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		281	0.00	0	C			113312283	113312283	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	silent	187	20.43	48	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr17:7577543C>T	ENST00000269305.4	-	7	927	c.738G>A	c.(736-738)atG>atA	p.M246I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000420246.2_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	GCCTCCGGTTCATGCCGCCCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(1)											152.0	113.0	126.0					17																	7577543		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.738G>A	17.37:g.7577543C>T	ENSP00000269305:p.Met246Ile		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M246I	ENST00000269305.4	37	c.738	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664920	0.88251	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	62	0.00	0	C	NM_000546		7577543	7577543	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	T
TMEM104	54868	genome.wustl.edu	37	17	72786401	72786401	+	Silent	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr17:72786401C>T	ENST00000335464.5	+	5	474	c.312C>T	c.(310-312)taC>taT	p.Y104Y	TMEM104_ENST00000582773.1_Silent_p.Y104Y|TMEM104_ENST00000417024.2_Silent_p.Y117Y|TMEM104_ENST00000582330.1_Silent_p.Y104Y	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	104						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGACAACTACGAGCGGGCAG	0.607																																						dbGAP											0													116.0	104.0	108.0					17																	72786401		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.312C>T	17.37:g.72786401C>T			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.Y104	ENST00000335464.5	37	c.312	CCDS32723.1	17																																																																																			TMEM104	-	NULL	ENSG00000109066		0.607	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	122	0.00	0	C	NM_017728		72786401	72786401	+1	no_errors	ENST00000335464	ensembl	human	known	69_37n	silent	110	22.22	32	SNP	0.992	T
TSTD2	158427	genome.wustl.edu	37	9	100368473	100368473	+	Silent	SNP	T	T	C			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr9:100368473T>C	ENST00000341170.4	-	7	1288	c.906A>G	c.(904-906)caA>caG	p.Q302Q	TSTD2_ENST00000354801.2_Silent_p.Q42Q	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	302	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TAGTATCACTTTGTTCTTGAT	0.328																																						dbGAP											0													112.0	111.0	111.0					9																	100368473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.906A>G	9.37:g.100368473T>C			A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.Q302	ENST00000341170.4	37	c.906	CCDS6727.2	9																																																																																			TSTD2	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000136925		0.328	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	169	0.00	0	T	NM_139246		100368473	100368473	-1	no_errors	ENST00000341170	ensembl	human	known	69_37n	silent	147	16.00	28	SNP	0.630	C
WDR38	401551	genome.wustl.edu	37	9	127619109	127619109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr9:127619109delA	ENST00000373574.1	+	7	773	c.717delA	c.(715-717)atafs	p.I239fs		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	239					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGAAGAGCATAGCCTTCTCTC	0.617																																						dbGAP											0													75.0	84.0	81.0					9																	127619109		2077	4205	6282	-	-	-	SO:0001589	frameshift_variant	0				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.717delA	9.37:g.127619109delA	ENSP00000362677:p.Ile239fs		A0PK24	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I239fs	ENST00000373574.1	37	c.717	CCDS43876.1	9																																																																																			WDR38	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136918		0.617	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	35	0.00	0	A	NM_001045476		127619109	127619109	+1	no_errors	ENST00000373574	ensembl	human	known	69_37n	frame_shift_del	18	33.33	9	DEL	0.982	-
ZBTB5	9925	genome.wustl.edu	37	9	37441772	37441772	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr9:37441772C>T	ENST00000307750.4	-	2	965	c.777G>A	c.(775-777)atG>atA	p.M259I		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTGATCAAACATGATCGCAC	0.463																																						dbGAP											0													84.0	89.0	87.0					9																	37441772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.777G>A	9.37:g.37441772C>T	ENSP00000307604:p.Met259Ile			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M259I	ENST00000307750.4	37	c.777	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	C	5.670	0.308232	0.10733	.	.	ENSG00000168795	ENST00000307750	T	0.08193	3.12	5.65	3.83	0.44106	.	0.192217	0.53938	D	0.000052	T	0.06416	0.0165	N	0.19112	0.55	0.40251	D	0.978078	B	0.06786	0.001	B	0.06405	0.002	T	0.28202	-1.0051	10	0.37606	T	0.19	.	12.7658	0.57391	0.0:0.8678:0.0:0.1322	.	259	O15062	ZBTB5_HUMAN	I	259	ENSP00000307604:M259I	ENSP00000307604:M259I	M	-	3	0	ZBTB5	37431772	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.214000	0.32419	0.952000	0.37798	-0.137000	0.14449	ATG	ZBTB5	-	NULL	ENSG00000168795		0.463	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	118	0.00	0	C	NM_014872		37441772	37441772	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	118	22.88	35	SNP	1.000	T
ZFP64	55734	genome.wustl.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						dbGAP											0									,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				-	-	-	SO:0001589	frameshift_variant	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q553fs	ENST00000216923.4	37	c.1656_1655	CCDS13440.1	20																																																																																			ZFP64	-	NULL	ENSG00000020256		0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	33	0.00	0	-	NM_018197		50769075	50769076	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	frame_shift_ins	13	23.53	4	INS	0.000:0.000	G
ZFPM2	23414	genome.wustl.edu	37	8	106646553	106646553	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr8:106646553A>T	ENST00000407775.2	+	5	750	c.500A>T	c.(499-501)gAc>gTc	p.D167V	ZFPM2_ENST00000517361.1_Missense_Mutation_p.D35V|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D35V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	167					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAGTGGAAGACAACAAAAAC	0.438																																						dbGAP											0													89.0	89.0	89.0					8																	106646553		2018	4189	6207	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.500A>T	8.37:g.106646553A>T	ENSP00000384179:p.Asp167Val		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D167V	ENST00000407775.2	37	c.500	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029009	0.75504	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.21191	2.02;2.36;2.36	5.62	5.62	0.85841	.	0.125798	0.51477	D	0.000094	T	0.38295	0.1035	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.07927	-1.0747	10	0.49607	T	0.09	.	15.8389	0.78824	1.0:0.0:0.0:0.0	.	167	Q8WW38	FOG2_HUMAN	V	167;35;35	ENSP00000384179:D167V;ENSP00000430757:D35V;ENSP00000428720:D35V	ENSP00000384179:D167V	D	+	2	0	ZFPM2	106715729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.150000	0.67090	0.533000	0.62120	GAC	ZFPM2	-	NULL	ENSG00000169946		0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	96	0.00	0	A			106646553	106646553	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	46	22.95	14	SNP	1.000	T
ZNF266	10781	genome.wustl.edu	37	19	9524313	9524313	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr19:9524313G>A	ENST00000592904.1	-	5	3364	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.H430Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H430Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.H430Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.H430Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H430Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H430Y			Q14584	ZN266_HUMAN	zinc finger protein 266	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCTCCAGTGTGAATTCTCAAA	0.428																																						dbGAP											0													64.0	62.0	63.0					19																	9524313		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1288C>T	19.37:g.9524313G>A	ENSP00000466714:p.His430Tyr		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H430Y	ENST00000592904.1	37	c.1288	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	G	30	5.054798	0.93793	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.67523	-0.27;-0.27	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85035	0.5605	H	0.94264	3.515	0.30590	N	0.761646	D	0.89917	1.0	D	0.87578	0.998	T	0.82394	-0.0479	9	0.87932	D	0	.	11.1769	0.48606	0.0:0.0:1.0:0.0	.	430	Q14584	ZN266_HUMAN	Y	430	ENSP00000354680:H430Y;ENSP00000355047:H430Y	ENSP00000355047:H430Y	H	-	1	0	ZNF266	9385313	1.000000	0.71417	0.199000	0.23439	0.966000	0.64601	6.089000	0.71384	1.727000	0.51537	0.555000	0.69702	CAC	ZNF266	-	smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	ENSG00000174652		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1	235	0.00	0	G			9524313	9524313	-1	no_errors	ENST00000361151	ensembl	human	known	69_37n	missense	155	11.43	20	SNP	0.996	A
ZNF532	55205	genome.wustl.edu	37	18	56586482	56586482	+	Silent	SNP	C	C	T	rs149812809		TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr18:56586482C>T	ENST00000336078.4	+	4	1739	c.963C>T	c.(961-963)atC>atT	p.I321I	ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I321I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGAATCTCATCGACGGGACCA	0.527																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											101.0	104.0	103.0					18																	56586482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.963C>T	18.37:g.56586482C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I321	ENST00000336078.4	37	c.963	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.527	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	905	0.11	1	C	NM_018181		56586482	56586482	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	silent	341	29.11	140	SNP	0.888	T
ZNF729	100287226	genome.wustl.edu	37	19	22497609	22497609	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09X-01A-11W-A019-09	TCGA-A8-A09X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	48e532ea-2af5-427a-a784-781e208cced6	a0a00bdd-dfc0-4707-9491-d509f218d623	g.chr19:22497609G>A	ENST00000601693.1	+	4	1508	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	ZNF729_ENST00000357491.6_Missense_Mutation_p.E464K			A6NN14	ZN729_HUMAN	zinc finger protein 729	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						CAAATGTGAAGAATGTGGCAA	0.378																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1390G>A	19.37:g.22497609G>A	ENSP00000469582:p.Glu464Lys		M0QY45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E464K	ENST00000601693.1	37	c.1390	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	11.34	1.610062	0.28712	.	.	ENSG00000196350	ENST00000357491	T	0.35605	1.3	1.27	-2.49	0.06403	.	.	.	.	.	T	0.27559	0.0677	L	0.33668	1.02	.	.	.	.	.	.	.	.	.	T	0.41840	-0.9486	6	0.66056	D	0.02	.	4.6872	0.12764	0.0:0.348:0.4567:0.1952	.	.	.	.	K	464	ENSP00000350085:E464K	ENSP00000350085:E464K	E	+	1	0	ZNF729	22289449	0.000000	0.05858	0.011000	0.14972	0.181000	0.23173	0.049000	0.14099	-0.243000	0.09653	0.484000	0.47621	GAA	ZNF729	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.378	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	327	0.00	0	G	XM_496301		22497609	22497609	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	missense	283	30.47	124	SNP	0.011	A
