#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
ABCA4	24	genome.wustl.edu	37	1	94505646	94505646	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:94505646G>A	ENST00000370225.3	-	24	3646	c.3560C>T	c.(3559-3561)aCg>aTg	p.T1187M		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1187					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.T1187M(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGCTGGACACGTGGTGGAGAA	0.562											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	104.0	113.0					1																	94505646		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3560C>T	1.37:g.94505646G>A	ENSP00000359245:p.Thr1187Met	1306	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.T1187M	ENST00000370225.3	37	c.3560	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250431	0.22880	.	.	ENSG00000198691	ENST00000370225	D	0.90900	-2.75	5.36	1.27	0.21489	.	0.826153	0.11384	N	0.569505	T	0.55049	0.1896	N	0.02011	-0.69	0.09310	N	0.999995	P	0.42692	0.787	B	0.36378	0.223	T	0.58434	-0.7637	10	0.46703	T	0.11	.	6.3895	0.21579	0.0:0.5012:0.3346:0.1642	.	1187	P78363	ABCA4_HUMAN	M	1187	ENSP00000359245:T1187M	ENSP00000359245:T1187M	T	-	2	0	ABCA4	94278234	0.004000	0.15560	0.051000	0.19133	0.001000	0.01503	-0.160000	0.10041	0.070000	0.16634	-0.868000	0.02995	ACG	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	347	0.29	1	G	NM_000350		94505646	94505646	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	105	35.98	59	SNP	0.138	A
ADAMTS12	81792	genome.wustl.edu	37	5	33642057	33642057	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr5:33642057A>T	ENST00000504830.1	-	11	1911	c.1576T>A	c.(1576-1578)Tgt>Agt	p.C526S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C526S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	526	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C526S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGCCATACACCACTGGAAA	0.562										HNSCC(64;0.19)																												dbGAP											1	Substitution - Missense(1)	breast(1)											53.0	43.0	46.0					5																	33642057		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1576T>A	5.37:g.33642057A>T	ENSP00000422554:p.Cys526Ser		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C526S	ENST00000504830.1	37	c.1576	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926786	0.92319	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.73258	-0.73;-0.69	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	D	0.91120	0.4929	10	0.56958	D	0.05	.	16.3817	0.83467	1.0:0.0:0.0:0.0	.	526;526	P58397-3;P58397	.;ATS12_HUMAN	S	526	ENSP00000422554:C526S;ENSP00000344847:C526S	ENSP00000344847:C526S	C	-	1	0	ADAMTS12	33677814	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.339000	0.96797	2.276000	0.75962	0.454000	0.30748	TGT	ADAMTS12	-	NULL	ENSG00000151388		0.562	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	62	0.00	0	A	NM_030955		33642057	33642057	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	76	16.30	15	SNP	1.000	T
ANTXR1	84168	genome.wustl.edu	37	2	69408958	69408958	+	Missense_Mutation	SNP	C	C	T	rs201850545		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:69408958C>T	ENST00000303714.4	+	15	1452	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	377					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AAGTGGCCAACGGTAGACGCC	0.463									Familial Infantile Hemangioma				C|||	1	0.000199681	0.0	0.0	5008	,	,		24319	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													149.0	136.0	141.0					2																	69408958		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1130C>T	2.37:g.69408958C>T	ENSP00000301945:p.Thr377Met		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T377M	ENST00000303714.4	37	c.1130	CCDS1892.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.68	3.872355	0.72180	.	.	ENSG00000169604	ENST00000303714	T	0.39787	1.06	5.57	5.57	0.84162	Anthrax toxin receptor, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72286	-0.4338	10	0.87932	D	0	-13.0519	18.5463	0.91047	0.0:1.0:0.0:0.0	.	377	Q9H6X2	ANTR1_HUMAN	M	377	ENSP00000301945:T377M	ENSP00000301945:T377M	T	+	2	0	ANTXR1	69262462	1.000000	0.71417	0.869000	0.34112	0.959000	0.62525	7.466000	0.80914	2.614000	0.88457	0.655000	0.94253	ACG	ANTXR1	-	pirsf_Anthrax_toxin_rcpt	ENSG00000169604		0.463	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	295	0.00	0	C	NM_032208		69408958	69408958	+1	no_errors	ENST00000303714	ensembl	human	known	69_37n	missense	141	43.60	109	SNP	0.998	T
ATP10A	57194	genome.wustl.edu	37	15	25925334	25925334	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr15:25925334G>T	ENST00000356865.6	-	20	3911	c.3800C>A	c.(3799-3801)gCc>gAc	p.A1267D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1267					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)	p.A1267D(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCCAGTAAGGCTTGCATAGT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											169.0	150.0	156.0					15																	25925334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3800C>A	15.37:g.25925334G>T	ENSP00000349325:p.Ala1267Asp		Q4G0S9|Q969I4	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.A1267D	ENST00000356865.6	37	c.3800	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594585	0.13875	.	.	ENSG00000206190	ENST00000356865	D	0.88896	-2.44	5.07	2.0	0.26442	.	0.369820	0.31859	N	0.006943	T	0.70046	0.3179	N	0.08118	0	0.18873	N	0.999981	B	0.06786	0.001	B	0.09377	0.004	T	0.52624	-0.8551	10	0.16896	T	0.51	-10.0549	2.6648	0.05041	0.088:0.2152:0.3545:0.3423	.	1267	O60312	AT10A_HUMAN	D	1267	ENSP00000349325:A1267D	ENSP00000349325:A1267D	A	-	2	0	ATP10A	23476427	0.605000	0.26941	0.152000	0.22495	0.660000	0.38997	1.063000	0.30567	1.276000	0.44395	0.655000	0.94253	GCC	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000206190		0.542	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	113	0.00	0	G	NM_024490		25925334	25925334	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	81	29.57	34	SNP	0.163	T
ATP7B	540	genome.wustl.edu	37	13	52508972	52508972	+	Missense_Mutation	SNP	G	G	A	rs543334965	byFrequency	TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr13:52508972G>A	ENST00000242839.4	-	21	4474	c.4318C>T	c.(4318-4320)Cgg>Tgg	p.R1440W	ATP7B_ENST00000400370.3_Missense_Mutation_p.R1010W|ATP7B_ENST00000418097.2_Missense_Mutation_p.R1375W|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1362W|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1329W|ATP7B_ENST00000417240.2_Missense_Mutation_p.R651W|ATP7B_ENST00000344297.5_Missense_Mutation_p.R1233W	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1440					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.R1440W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCGCTGTGCCGAGATGGCTTG	0.622									Wilson disease				G|||	2	0.000399361	0.0	0.0	5008	,	,		22708	0.0		0.0	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	breast(1)											90.0	92.0	92.0					13																	52508972		2178	4282	6460	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4318C>T	13.37:g.52508972G>A	ENSP00000242839:p.Arg1440Trp		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.R1440W	ENST00000242839.4	37	c.4318	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111085	0.37242	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.93	3.14	0.36123	.	0.000000	0.64402	D	0.000001	T	0.81950	0.4931	L	0.47716	1.5	0.53688	D	0.999975	D;D;B;D;B;D;B;D	0.89917	1.0;1.0;0.231;0.998;0.231;0.998;0.231;1.0	D;D;B;P;B;D;B;D	0.85130	0.997;0.982;0.026;0.772;0.026;0.962;0.026;0.973	T	0.79988	-0.1571	10	0.46703	T	0.11	-13.2299	9.7455	0.40444	0.0677:0.0:0.5485:0.3838	.	1362;1392;1375;651;1010;1329;1233;1440	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	W	1440;1329;1233;651;1362;1010;1375	ENSP00000242839:R1440W;ENSP00000383217:R1329W;ENSP00000342559:R1233W;ENSP00000390360:R651W;ENSP00000416738:R1362W;ENSP00000383221:R1010W;ENSP00000393343:R1375W	ENSP00000242839:R1440W	R	-	1	2	ATP7B	51406973	0.600000	0.26899	0.796000	0.32109	0.003000	0.03518	2.389000	0.44407	0.825000	0.34637	-0.136000	0.14681	CGG	ATP7B	-	NULL	ENSG00000123191		0.622	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	84	0.00	0	G	NM_000053		52508972	52508972	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	missense	24	52.94	27	SNP	0.655	A
AURKC	6795	genome.wustl.edu	37	19	57743593	57743593	+	Splice_Site	SNP	G	G	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr19:57743593G>C	ENST00000302804.7	+	3	482		c.e3+1		AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C						attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(2)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CTCATCTACAGTAAGGACAGT	0.488																																						dbGAP											2	Unknown(2)	breast(2)											45.0	39.0	41.0					19																	57743593		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.296+1G>C	19.37:g.57743593G>C			O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Splice_Site	SNP	-	e3+1	ENST00000302804.7	37	c.296+1	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190745	0.21954	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	.	.	.	3.32	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9522	0.58407	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AURKC	62435405	1.000000	0.71417	0.990000	0.47175	0.162000	0.22319	8.067000	0.89488	2.155000	0.67459	0.455000	0.32223	.	AURKC	-	-	ENSG00000105146		0.488	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	52	0.00	0	G	NM_003160	Intron	57743593	57743593	+1	no_errors	ENST00000302804	ensembl	human	known	69_37n	splice_site	42	20.75	11	SNP	1.000	C
C10orf128	170371	genome.wustl.edu	37	10	50369647	50369647	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr10:50369647T>G	ENST00000474718.1	-	5	312	c.290A>C	c.(289-291)aAa>aCa	p.K97T	C10orf128_ENST00000374148.1_Missense_Mutation_p.Q149H|C10orf128_ENST00000374153.2_Missense_Mutation_p.Q123H|C10orf128_ENST00000374151.3_Missense_Mutation_p.Q149H	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	97						integral component of membrane (GO:0016021)		p.K97T(1)		breast(1)|large_intestine(1)|lung(1)	3						AACTCACCTTTTGGAGAAATT	0.478											OREG0020181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											121.0	114.0	116.0					10																	50369647		1913	4118	6031	-	-	-	SO:0001583	missense	0			BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.290A>C	10.37:g.50369647T>G	ENSP00000417246:p.Lys97Thr	969	A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	NULL	p.Q149H	ENST00000474718.1	37	c.447	CCDS41519.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.46|12.46|12.46	1.943957|1.943957|1.943957	0.34283|0.34283|0.34283	.|.|.	.|.|.	ENSG00000204161|ENSG00000204161|ENSG00000204161	ENST00000453436;ENST00000374149|ENST00000474718|ENST00000374153;ENST00000374151;ENST00000374148	T|T|T;T;T	0.51574|0.46451|0.50813	0.7|0.87|0.78;0.73;0.74	4.74|4.74|4.74	2.4|2.4|2.4	0.29515|0.29515|0.29515	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.27594|0.27594|0.27594	0.0678|0.0678|0.0678	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|P;P;B	.|0.19817|0.35656	.|0.039|0.514;0.514;0.32	.|B|B;B;B	.|0.23574|0.38056	.|0.047|0.264;0.176;0.176	T|T|T	0.16867|0.16867|0.16867	-1.0388|-1.0388|-1.0388	7|9|9	0.42905|0.15499|0.87932	T|T|D	0.14|0.54|0	.|.|.	5.7919|5.7919|5.7919	0.18365|0.18365|0.18365	0.0:0.2263:0.0:0.7737|0.0:0.2263:0.0:0.7737|0.0:0.2263:0.0:0.7737	.|.|.	.|97|149;149;123	.|Q5T292|Q5T292-2;Q5T292-3;Q5T292-4	.|CJ128_HUMAN|.;.;.	Q|T|H	79;81|97|123;149;149	ENSP00000395067:K79Q|ENSP00000417246:K97T|ENSP00000363268:Q123H;ENSP00000363266:Q149H;ENSP00000363263:Q149H	ENSP00000363264:K81Q|ENSP00000417246:K97T|ENSP00000363263:Q149H	K|K|Q	-|-|-	1|2|3	0|0|2	C10orf128|C10orf128|C10orf128	50039653|50039653|50039653	0.004000|0.004000|0.004000	0.15560|0.15560|0.15560	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.088000|0.088000|0.088000	0.18126|0.18126|0.18126	1.367000|1.367000|1.367000	0.34204|0.34204|0.34204	0.218000|0.218000|0.218000	0.20820|0.20820|0.20820	0.377000|0.377000|0.377000	0.23210|0.23210|0.23210	AAA|AAA|CAA	C10orf128	-	NULL	ENSG00000204161		0.478	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf128	HGNC	protein_coding	OTTHUMT00000047978.1	264	0.38	1	T	NM_001010863		50369647	50369647	-1	no_errors	ENST00000374151	ensembl	human	known	69_37n	missense	381	17.17	79	SNP	0.003	G
CDK5RAP2	55755	genome.wustl.edu	37	9	123232463	123232463	+	Missense_Mutation	SNP	A	A	C	rs571979787		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr9:123232463A>C	ENST00000349780.4	-	17	2073	c.1894T>G	c.(1894-1896)Tat>Gat	p.Y632D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Y632D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Y632D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Y632D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	632					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.Y632D(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATACTTAGATAAGATGTTTGA	0.328																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	37.0	36.0					9																	123232463		2198	4300	6498	-	-	-	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1894T>G	9.37:g.123232463A>C	ENSP00000343818:p.Tyr632Asp		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.Y632D	ENST00000349780.4	37	c.1894	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753806	0.69648	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.56941	3.06;2.73;2.8;2.71;0.43	5.57	5.57	0.84162	.	0.000000	0.53938	D	0.000058	T	0.61223	0.2330	L	0.36672	1.1	0.36767	D	0.883603	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.65236	-0.6217	10	0.34782	T	0.22	.	12.1338	0.53959	1.0:0.0:0.0:0.0	.	433;632;632;632	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	D	632;632;632;632;58;633	ENSP00000354065:Y632D;ENSP00000352258:Y632D;ENSP00000343818:Y632D;ENSP00000353317:Y632D;ENSP00000400395:Y58D	ENSP00000341695:Y633D	Y	-	1	0	CDK5RAP2	122272284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.126000	0.65437	0.533000	0.62120	TAT	CDK5RAP2	-	NULL	ENSG00000136861		0.328	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	97	0.00	0	A	NM_018249		123232463	123232463	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	C
CAMSAP1	157922	genome.wustl.edu	37	9	138714775	138714775	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr9:138714775C>T	ENST00000389532.4	-	11	1796	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G300R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G589R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	578					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.G578R(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCAGCTGTCCTTGGGGAGAC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	86.0	82.0					9																	138714775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1732G>A	9.37:g.138714775C>T	ENSP00000374183:p.Gly578Arg		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.G589R	ENST00000389532.4	37	c.1765	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544499	0.04024	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.13307	2.62;2.6;2.62	5.2	2.9	0.33743	.	0.374258	0.29431	N	0.012163	T	0.03390	0.0098	N	0.00308	-1.67	0.27361	N	0.95596	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34229	-0.9837	10	0.87932	D	0	-0.2717	7.8686	0.29552	0.0:0.1795:0.0:0.8205	.	578;589	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	R	578;300;589	ENSP00000374183:G578R;ENSP00000312463:G300R;ENSP00000386420:G589R	ENSP00000312463:G300R	G	-	1	0	CAMSAP1	137854596	0.729000	0.28090	0.190000	0.23270	0.236000	0.25371	0.899000	0.28417	0.341000	0.23771	0.655000	0.94253	GGA	CAMSAP1	-	NULL	ENSG00000130559		0.557	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	53	0.00	0	C	XM_351857		138714775	138714775	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	0.562	T
CHD4	1108	genome.wustl.edu	37	12	6696712	6696712	+	Silent	SNP	T	T	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr12:6696712T>C	ENST00000357008.2	-	25	3880	c.3717A>G	c.(3715-3717)aaA>aaG	p.K1239K	CHD4_ENST00000544040.1_Silent_p.K1232K|CHD4_ENST00000544484.1_Silent_p.K1236K|CHD4_ENST00000309577.6_Silent_p.K1239K|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1239					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K1239K(2)		central_nervous_system(2)	2						CTTCTCCCTCTTTGTTGTCTC	0.473																																					Colon(32;586 792 4568 16848 45314)	dbGAP											2	Substitution - coding silent(2)	breast(2)											158.0	139.0	146.0					12																	6696712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3717A>G	12.37:g.6696712T>C			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K1239	ENST00000357008.2	37	c.3717	CCDS8552.1	12																																																																																			CHD4	-	NULL	ENSG00000111642		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		221	0.00	0	T	NM_001273		6696712	6696712	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	silent	173	25.32	59	SNP	1.000	C
CT47B1	643311	genome.wustl.edu	37	X	120009253	120009253	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chrX:120009253G>A	ENST00000371311.3	-	1	526	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	91								p.T91M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctcttcctccGTCGCGGGCCC	0.706																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	39.0	38.0					X																	120009253		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.272C>T	X.37:g.120009253G>A	ENSP00000360360:p.Thr91Met		A6NM97	Missense_Mutation	SNP	NULL	p.T91M	ENST00000371311.3	37	c.272	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	A	7.770	0.707322	0.15239	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.06	-0.715	0.11215	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.45881	0.496	T	0.10776	-1.0615	8	0.52906	T	0.07	.	3.1239	0.06401	0.2823:0.0:0.3856:0.3321	.	91	P0C2W7	CT47B_HUMAN	M	91	.	ENSP00000360360:T91M	T	-	2	0	CT47B1	119893281	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.369000	0.07533	-0.691000	0.05135	-2.971000	0.00081	ACG	CT47B1	-	NULL	ENSG00000236446		0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	33	0.00	0	G	NM_001145718		120009253	120009253	-1	no_errors	ENST00000371311	ensembl	human	known	69_37n	missense	15	55.88	19	SNP	0.000	A
CTDP1	9150	genome.wustl.edu	37	18	77475211	77475211	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr18:77475211C>T	ENST00000299543.7	+	8	1898	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	CTDP1_ENST00000075430.7_Missense_Mutation_p.T584M	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	584					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.T584M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		gaggaggaCACGGATGAGGAT	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	59.0	64.0					18																	77475211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1751C>T	18.37:g.77475211C>T	ENSP00000299543:p.Thr584Met		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.T584M	ENST00000299543.7	37	c.1751	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862992	0.32884	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.10382	2.9;2.88	4.28	1.13	0.20643	.	1.368490	0.04600	N	0.398290	T	0.20901	0.0503	L	0.56769	1.78	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.977	P;P;P	0.50970	0.579;0.655;0.454	T	0.32640	-0.9899	10	0.51188	T	0.08	-1.1606	10.0896	0.42439	0.2715:0.5971:0.1315:0.0	.	465;584;584	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	M	584	ENSP00000299543:T584M;ENSP00000075430:T584M	ENSP00000075430:T584M	T	+	2	0	CTDP1	75576199	0.000000	0.05858	0.032000	0.17829	0.634000	0.38068	0.372000	0.20467	0.346000	0.23899	0.467000	0.42956	ACG	CTDP1	-	NULL	ENSG00000060069		0.582	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	49	0.00	0	C	NM_004715		77475211	77475211	+1	no_errors	ENST00000299543	ensembl	human	known	69_37n	missense	26	15.62	5	SNP	0.010	T
DISP1	84976	genome.wustl.edu	37	1	223176396	223176396	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:223176396G>A	ENST00000284476.6	+	8	1821	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	553	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTCACTTCGAATTTTTTCC	0.353																																						dbGAP											0													157.0	147.0	151.0					1																	223176396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1657G>A	1.37:g.223176396G>A	ENSP00000284476:p.Glu553Lys		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.E553K	ENST00000284476.6	37	c.1657	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066584	0.76301	.	.	ENSG00000154309	ENST00000284476	D	0.92099	-2.97	5.84	5.84	0.93424	Sterol-sensing domain (1);	0.043122	0.85682	D	0.000000	D	0.83945	0.5364	N	0.14661	0.345	0.80722	D	1	P	0.38677	0.642	B	0.33750	0.169	T	0.82727	-0.0314	10	0.08599	T	0.76	-34.5468	20.1336	0.98010	0.0:0.0:1.0:0.0	.	553	Q96F81	DISP1_HUMAN	K	553	ENSP00000284476:E553K	ENSP00000284476:E553K	E	+	1	0	DISP1	221243019	1.000000	0.71417	0.574000	0.28523	0.991000	0.79684	6.538000	0.73852	2.767000	0.95098	0.591000	0.81541	GAA	DISP1	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	ENSG00000154309		0.353	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	141	0.00	0	G	NM_032890		223176396	223176396	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	217	11.43	28	SNP	1.000	A
DLGAP1	9229	genome.wustl.edu	37	18	3567558	3567558	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr18:3567558C>A	ENST00000315677.3	-	9	2582	c.1987G>T	c.(1987-1989)Gac>Tac	p.D663Y	DLGAP1_ENST00000515196.2_Missense_Mutation_p.D663Y|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D663Y|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D361Y|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D353Y|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D369Y|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D369Y|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D379Y|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D361Y|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D371Y|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D663Y|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D347Y	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	663					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.D663Y(1)|p.D371Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTGTTTTGTCAGGTTCTTCA	0.408																																						dbGAP											2	Substitution - Missense(2)	breast(2)											250.0	195.0	214.0					18																	3567558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1987G>T	18.37:g.3567558C>A	ENSP00000316377:p.Asp663Tyr		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.D663Y	ENST00000315677.3	37	c.1987	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075667	0.55646	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.77	5.77	0.91146	.	1.524820	0.03146	N	0.167287	T	0.29976	0.0750	L	0.39898	1.24	0.34934	D	0.74962	B;P;B;P;B;P;B;B	0.42620	0.202;0.56;0.033;0.602;0.111;0.785;0.159;0.147	B;B;B;B;B;B;B;B	0.41813	0.186;0.183;0.048;0.266;0.078;0.367;0.317;0.273	T	0.31724	-0.9933	10	0.72032	D	0.01	-10.9177	16.7131	0.85391	0.0:1.0:0.0:0.0	.	663;347;359;369;371;361;663;361	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	Y	663;361;379;353;369;347;371;361;663	ENSP00000316377:D663Y;ENSP00000383011:D361Y;ENSP00000383014:D379Y;ENSP00000383013:D353Y;ENSP00000383019:D369Y;ENSP00000437817:D347Y;ENSP00000446312:D371Y;ENSP00000383010:D361Y;ENSP00000445973:D663Y	ENSP00000316377:D663Y	D	-	1	0	DLGAP1	3557558	0.993000	0.37304	1.000000	0.80357	0.980000	0.70556	1.196000	0.32198	2.729000	0.93468	0.655000	0.94253	GAC	DLGAP1	-	pfam_GKAP	ENSG00000170579		0.408	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	271	0.00	0	C			3567558	3567558	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	missense	278	18.71	64	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132245098	132245098	+	Silent	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr3:132245098G>A	ENST00000260818.6	+	53	6602	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2118					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.Q2118Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATGTTTCAGAAGGAGCAGA	0.388																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											114.0	110.0	112.0					3																	132245098		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6354G>A	3.37:g.132245098G>A			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.Q2118	ENST00000260818.6	37	c.6354	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.388	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	171	0.00	0	G	NM_015268		132245098	132245098	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	silent	157	19.49	38	SNP	1.000	A
DNASE2	1777	genome.wustl.edu	37	19	12989580	12989580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr19:12989580delC	ENST00000222219.3	-	4	507	c.415delG	c.(415-417)gccfs	p.A139fs	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	139					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)	p.A139fs*36(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GCAGAGGAGGCCGGTGGAGGG	0.577																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											70.0	61.0	64.0					19																	12989580		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.415delG	19.37:g.12989580delC	ENSP00000222219:p.Ala139fs		B2RD06|B7Z4K6|O43910	Frame_Shift_Del	DEL	pfam_DNase_II	p.A139fs	ENST00000222219.3	37	c.415	CCDS12284.1	19																																																																																			DNASE2	-	pfam_DNase_II	ENSG00000105612		0.577	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE2	HGNC	protein_coding	OTTHUMT00000451790.1	169	0.00	0	C			12989580	12989580	-1	no_errors	ENST00000222219	ensembl	human	known	69_37n	frame_shift_del	35	25.53	12	DEL	0.001	-
DNM1P46	196968	genome.wustl.edu	37	15	100345136	100345137	+	5'Flank	INS	-	-	A	rs202231117	byFrequency	TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr15:100345136_100345137insA	ENST00000560059.1	+	0	0				DNM1P46_ENST00000341853.1_RNA|CTD-2054N24.2_ENST00000559714.1_5'Flank																							TGGTCGGTGCTAAAAAAAAAAT	0.436																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0																															15.37:g.100345146_100345146dupA	Exception_encountered			Splice_Site	INS	-	NULL	ENST00000560059.1	37	c.NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.436	CTD-2054N24.2-002	PUTATIVE	basic|appris_principal	protein_coding	DNM1P46	HGNC	protein_coding	OTTHUMT00000416905.2	40	0.00	0	-			100345136	100345137	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	splice_site_ins	25	10.71	3	INS	0.074:0.098	A
ETV6	2120	genome.wustl.edu	37	12	12022707	12022707	+	Silent	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr12:12022707C>T	ENST00000396373.4	+	5	1087	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	271					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S271S(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TGATGCCCAGCCCCATCATGC	0.622			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	1	Substitution - coding silent(1)	breast(1)											92.0	88.0	90.0					12																	12022707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.813C>T	12.37:g.12022707C>T			A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.S271	ENST00000396373.4	37	c.813	CCDS8643.1	12																																																																																			ETV6	-	NULL	ENSG00000139083		0.622	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	70	0.00	0	C	NM_001987		12022707	12022707	+1	no_errors	ENST00000396373	ensembl	human	known	69_37n	silent	58	13.43	9	SNP	0.997	T
EVC2	132884	genome.wustl.edu	37	4	5624559	5624559	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr4:5624559G>A	ENST00000344408.5	-	14	2259	c.2206C>T	c.(2206-2208)Ctc>Ttc	p.L736F	EVC2_ENST00000344938.1_Missense_Mutation_p.L736F|EVC2_ENST00000310917.2_Missense_Mutation_p.L656F	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	736					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L736F(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGGGTCCTGAGATCGTCCAGG	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	60.0	62.0					4																	5624559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2206C>T	4.37:g.5624559G>A	ENSP00000342144:p.Leu736Phe		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_EVC2-like	p.L736F	ENST00000344408.5	37	c.2206	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820138	0.50633	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.83335	-1.71;-1.69;-1.7	5.12	4.26	0.50523	.	0.507715	0.21443	N	0.074447	D	0.86838	0.6029	M	0.61703	1.905	0.38657	D	0.951982	D	0.76494	0.999	P	0.62435	0.902	D	0.87186	0.2231	10	0.66056	D	0.02	-14.7745	8.2468	0.31693	0.083:0.1591:0.7579:0.0	.	736	Q86UK5	LBN_HUMAN	F	736;656;736	ENSP00000339954:L736F;ENSP00000311683:L656F;ENSP00000342144:L736F	ENSP00000311683:L656F	L	-	1	0	EVC2	5675460	0.996000	0.38824	0.802000	0.32245	0.427000	0.31564	2.216000	0.42871	1.113000	0.41760	0.462000	0.41574	CTC	EVC2	-	NULL	ENSG00000173040		0.652	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	82	0.00	0	G	NM_147127		5624559	5624559	-1	no_errors	ENST00000344408	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	0.933	A
FAM171A1	221061	genome.wustl.edu	37	10	15325912	15325912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr10:15325912delG	ENST00000378116.4	-	2	296	c.290delC	c.(289-291)ccafs	p.P97fs		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	97						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P97fs*17(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGAGTTTGGCACGTAGGC	0.552																																						dbGAP											2	Deletion - Frameshift(2)	breast(2)											113.0	93.0	100.0					10																	15325912		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.290delC	10.37:g.15325912delG	ENSP00000367356:p.Pro97fs		D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Del	DEL	pfam_Uncharacterised_FAM171	p.P97fs	ENST00000378116.4	37	c.290	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	191	0.00	0	G	XM_167709		15325912	15325912	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	frame_shift_del	125	22.36	36	DEL	1.000	-
RMDN1	51115	genome.wustl.edu	37	8	87498796	87498796	+	Nonsense_Mutation	SNP	C	C	A	rs200012220		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr8:87498796C>A	ENST00000406452.3	-	4	571	c.412G>T	c.(412-414)Gag>Tag	p.E138*	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000430676.2_Nonsense_Mutation_p.E138*|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.E138*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.E94*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	138						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.E138*(1)									AGCTTTTTCTCCTCTTCTGAG	0.383																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											139.0	121.0	127.0					8																	87498796		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.412G>T	8.37:g.87498796C>A	ENSP00000385927:p.Glu138*		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	NULL	p.E138*	ENST00000406452.3	37	c.412	CCDS34918.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.284553|5.284553	0.95517|0.95517	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000520719;ENST00000521045|ENST00000519789	.|.	.|.	.|.	5.88|5.88	4.99|4.99	0.66335|0.66335	.|.	0.235140|.	0.43416|.	D|.	0.000569|.	.|T	.|0.62853	.|0.2462	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61297	.|-0.7091	.|4	0.30078|.	T|.	0.28|.	-12.1397|-12.1397	11.175|11.175	0.48595|0.48595	0.0:0.8019:0.1294:0.0687|0.0:0.8019:0.1294:0.0687	.|.	.|.	.|.	.|.	X|V	138;94;138;138;2;94|83	.|.	ENSP00000385927:E138X|.	E|G	-|-	1|2	0|0	FAM82B|FAM82B	87567912|87567912	0.951000|0.951000	0.32395|0.32395	0.988000|0.988000	0.46212|0.46212	0.964000|0.964000	0.63967|0.63967	1.988000|1.988000	0.40697|0.40697	1.439000|1.439000	0.47511|0.47511	0.650000|0.650000	0.86243|0.86243	GAG|GGA	FAM82B	-	NULL	ENSG00000176623		0.383	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	HGNC	protein_coding	OTTHUMT00000374770.2	138	0.00	0	C	NM_016033		87498796	87498796	-1	no_errors	ENST00000406452	ensembl	human	known	69_37n	nonsense	52	44.21	42	SNP	0.968	A
FBXO7	25793	genome.wustl.edu	37	22	32881084	32881084	+	Silent	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr22:32881084G>A	ENST00000266087.7	+	4	1002	c.675G>A	c.(673-675)ccG>ccA	p.P225P	FBXO7_ENST00000382058.3_Silent_p.P146P|FBXO7_ENST00000397426.1_Silent_p.P111P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	225	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.P225P(2)|p.P146P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTCCATGCCGGAGAAGTGGA	0.483																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											129.0	114.0	119.0					22																	32881084		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.675G>A	22.37:g.32881084G>A			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P225	ENST00000266087.7	37	c.675	CCDS13907.1	22																																																																																			FBXO7	-	pfam_Inhibitor_PI31	ENSG00000100225		0.483	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	267	0.37	1	G			32881084	32881084	+1	no_errors	ENST00000266087	ensembl	human	known	69_37n	silent	233	20.21	59	SNP	0.011	A
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	T	rs144824106		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr10:8115874_8115875insT	ENST00000346208.3	+	6	1675_1676	c.1220_1221insT	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	Exception_encountered	10.37:g.8115874_8115875insT	ENSP00000341619:p.Pro408fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	126	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	74	18.68	17	INS	0.903:0.359	T
GJA9	81025	genome.wustl.edu	37	1	39340570	39340570	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:39340570T>C	ENST00000360786.3	-	1	1453	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.M401V|GJA9_ENST00000357771.3_Missense_Mutation_p.M401V|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	401					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.M401V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GACTGCCTCATGTTGTTCTCT	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	147.0	151.0					1																	39340570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1201A>G	1.37:g.39340570T>C	ENSP00000354020:p.Met401Val		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.M401V	ENST00000360786.3	37	c.1201	CCDS432.1	1	.	.	.	.	.	.	.	.	.	.	T	4.838	0.155777	0.09236	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97328	-4.34;-4.23;-4.23	4.23	-8.15	0.01065	.	5.621070	0.00481	U	0.000123	D	0.87321	0.6148	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.86130	0.1574	10	0.02654	T	1	.	2.7338	0.05234	0.2177:0.4222:0.1105:0.2497	.	401	P57773	CXA9_HUMAN	V	401	ENSP00000406846:M401V;ENSP00000350415:M401V;ENSP00000354020:M401V	ENSP00000350415:M401V	M	-	1	0	GJA9	39113157	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.078000	0.03413	-1.270000	0.02433	0.533000	0.62120	ATG	GJA9	-	NULL	ENSG00000131233		0.453	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	360	0.00	0	T	NM_030772		39340570	39340570	-1	no_errors	ENST00000357771	ensembl	human	known	69_37n	missense	153	27.49	58	SNP	0.000	C
HYDIN	54768	genome.wustl.edu	37	16	71103181	71103181	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr16:71103181C>A	ENST00000393567.2	-	14	2113	c.1963G>T	c.(1963-1965)Gct>Tct	p.A655S	HYDIN_ENST00000393550.2_Missense_Mutation_p.A670S|HYDIN_ENST00000541601.1_Missense_Mutation_p.A672S|HYDIN_ENST00000448691.1_Missense_Mutation_p.A655S|HYDIN_ENST00000288168.10_Missense_Mutation_p.A672S|HYDIN_ENST00000321489.5_Missense_Mutation_p.A655S|HYDIN_ENST00000448089.2_Missense_Mutation_p.A655S|HYDIN_ENST00000538248.1_Missense_Mutation_p.A682S|HYDIN_ENST00000543639.1_5'Flank	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	655					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A655S(3)|p.A670S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGATAGCAGCAAATCCCTGG	0.483																																						dbGAP											4	Substitution - Missense(4)	breast(4)											47.0	51.0	49.0					16																	71103181		2197	4295	6492	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1963G>T	16.37:g.71103181C>A	ENSP00000377197:p.Ala655Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.A655S	ENST00000393567.2	37	c.1963	CCDS59269.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.32|11.32	1.603372|1.603372	0.28534|0.28534	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890	T;T;T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97|.	5.27|5.27	0.979|0.979	0.19745|0.19745	.|.	1.145970|.	0.07001|.	U|.	0.823364|.	T|T	0.37865|0.37865	0.1019|0.1019	L|L	0.49350|0.49350	1.555|1.555	0.21184|0.21184	N|N	0.999761|0.999761	B;B;B;B;P|.	0.38078|.	0.099;0.099;0.05;0.099;0.617|.	B;B;B;B;B|.	0.33960|.	0.067;0.067;0.026;0.052;0.173|.	T|T	0.28396|0.28396	-1.0045|-1.0045	10|5	0.09084|.	T|.	0.74|.	.|.	5.7867|5.7867	0.18336|0.18336	0.0:0.4971:0.128:0.3749|0.0:0.4971:0.128:0.3749	.|.	682;672;672;655;655|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	S|F	655;655;655;655;655;682;672;672;670|56	ENSP00000377197:A655S;ENSP00000398544:A655S;ENSP00000394826:A655S;ENSP00000314736:A655S;ENSP00000444970:A682S;ENSP00000437341:A672S;ENSP00000288168:A672S;ENSP00000377181:A670S|.	ENSP00000288168:A672S|.	A|L	-|-	1|3	0|2	HYDIN|HYDIN	69660682|69660682	0.365000|0.365000	0.25006|0.25006	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	0.098000|0.098000	0.15189|0.15189	0.224000|0.224000	0.20940|0.20940	-0.216000|-0.216000	0.12614|0.12614	GCT|TTG	HYDIN	-	NULL	ENSG00000157423		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	271	0.00	0	C			71103181	71103181	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	371	15.10	66	SNP	0.980	A
IGSF9B	22997	genome.wustl.edu	37	11	133801654	133801654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr11:133801654G>A	ENST00000321016.8	-	9	1377	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.R383*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	383	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R383*(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCTCAATTCGAATGGAGCCA	0.597																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											38.0	43.0	41.0					11																	133801654		2016	4181	6197	-	-	-	SO:0001587	stop_gained	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1147C>T	11.37:g.133801654G>A	ENSP00000317980:p.Arg383*		G5EA26	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R383*	ENST00000321016.8	37	c.1147		11	.	.	.	.	.	.	.	.	.	.	G	41	8.808489	0.98962	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.1781	0.89768	0.0:0.0:1.0:0.0	.	.	.	.	X	383;225;383	.	ENSP00000317980:R383X	R	-	1	2	IGSF9B	133306864	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	4.592000	0.61027	2.281000	0.76405	0.543000	0.68304	CGA	IGSF9B	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000080854		0.597	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		52	0.00	0	G	XM_290502		133801654	133801654	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	nonsense	8	63.64	14	SNP	1.000	A
ITPR2	3709	genome.wustl.edu	37	12	26752146	26752146	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr12:26752146A>T	ENST00000381340.3	-	30	4350	c.3934T>A	c.(3934-3936)Ttt>Att	p.F1312I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1312					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.F1312I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTTTGCAAAAACCTCAGGTAC	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											258.0	252.0	254.0					12																	26752146		1964	4162	6126	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3934T>A	12.37:g.26752146A>T	ENSP00000370744:p.Phe1312Ile		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F1312I	ENST00000381340.3	37	c.3934	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.855369	0.91355	.	.	ENSG00000123104	ENST00000381340	T	0.65178	-0.14	4.32	4.32	0.51571	Intracellular calcium-release channel (1);	0.050650	0.85682	N	0.000000	T	0.79435	0.4445	M	0.83223	2.63	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.82592	-0.0381	10	0.59425	D	0.04	.	13.9703	0.64235	1.0:0.0:0.0:0.0	.	1312	Q14571	ITPR2_HUMAN	I	1312	ENSP00000370744:F1312I	ENSP00000370744:F1312I	F	-	1	0	ITPR2	26643413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.997000	0.93544	1.943000	0.56356	0.528000	0.53228	TTT	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold	ENSG00000123104		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	532	0.00	0	A	NM_002223		26752146	26752146	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	611	13.28	94	SNP	1.000	T
IVNS1ABP	10625	genome.wustl.edu	37	1	185269464	185269465	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:185269464_185269465delAT	ENST00000367498.3	-	12	1875_1876	c.1253_1254delAT	c.(1252-1254)tatfs	p.Y418fs	IVNS1ABP_ENST00000392007.3_Frame_Shift_Del_p.Y200fs|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	418					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.Y418fs*11(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CACCTACCACATAGAGCTGGCC	0.431																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1253_1254delAT	1.37:g.185269464_185269465delAT	ENSP00000356468:p.Tyr418fs		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y418fs	ENST00000367498.3	37	c.1254_1253	CCDS1368.1	1																																																																																			IVNS1ABP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000116679		0.431	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	95	0.00	0	AT	NM_006469		185269464	185269465	-1	no_errors	ENST00000367498	ensembl	human	known	69_37n	frame_shift_del	199	22.48	58	DEL	1.000:1.000	-
KANK4	163782	genome.wustl.edu	37	1	62734091	62734091	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:62734091T>C	ENST00000371153.4	-	5	2477	c.2099A>G	c.(2098-2100)gAc>gGc	p.D700G	KANK4_ENST00000354381.3_Missense_Mutation_p.D72G|KANK4_ENST00000371150.1_Missense_Mutation_p.D56G	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	700						cytoplasm (GO:0005737)		p.D700G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATCTGGGCCGTCACACTTCTT	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											109.0	89.0	96.0					1																	62734091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2099A>G	1.37:g.62734091T>C	ENSP00000360195:p.Asp700Gly		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D700G	ENST00000371153.4	37	c.2099	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985804	0.35036	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.50548	0.79;0.74;0.76	6.17	2.65	0.31530	.	0.569128	0.14682	N	0.304669	T	0.36331	0.0963	L	0.41079	1.255	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.22765	-1.0207	10	0.30854	T	0.27	-7.1705	8.6717	0.34154	0.0:0.2815:0.0:0.7185	.	72;700	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	G	700;72;56	ENSP00000360195:D700G;ENSP00000346352:D72G;ENSP00000360192:D56G	ENSP00000346352:D72G	D	-	2	0	KANK4	62506679	0.012000	0.17670	0.001000	0.08648	0.163000	0.22366	1.120000	0.31271	0.217000	0.20800	0.533000	0.62120	GAC	KANK4	-	NULL	ENSG00000132854		0.592	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	54	0.00	0	T	NM_181712		62734091	62734091	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.003	C
KCNK18	338567	genome.wustl.edu	37	10	118969429	118969429	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr10:118969429G>T	ENST00000334549.1	+	3	774	c.774G>T	c.(772-774)ttG>ttT	p.L258F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	258					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.L258F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AACTGGTGTTGGGAAGACTCT	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	144.0	150.0					10																	118969429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.774G>T	10.37:g.118969429G>T	ENSP00000334650:p.Leu258Phe		Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.L258F	ENST00000334549.1	37	c.774	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508666	0.27036	.	.	ENSG00000186795	ENST00000334549	T	0.15372	2.43	5.4	-8.46	0.00942	.	1.966100	0.02084	N	0.052562	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.15484	0.013	T	0.30179	-0.9987	10	0.56958	D	0.05	.	4.3959	0.11363	0.3083:0.4005:0.2112:0.08	.	258	Q7Z418	KCNKI_HUMAN	F	258	ENSP00000334650:L258F	ENSP00000334650:L258F	L	+	3	2	KCNK18	118959419	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.349000	0.01093	-1.214000	0.02614	-0.137000	0.14449	TTG	KCNK18	-	NULL	ENSG00000186795		0.512	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	290	0.00	0	G	NM_181840		118969429	118969429	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	205	18.97	48	SNP	0.000	T
LYN	4067	genome.wustl.edu	37	8	56922638	56922638	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr8:56922638C>A	ENST00000519728.1	+	13	1804	c.1508C>A	c.(1507-1509)gCc>gAc	p.A503D	LYN_ENST00000520220.2_Missense_Mutation_p.A482D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	503					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.A503D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTCTACACAGCCACGGAAGGG	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	81.0	82.0					8																	56922638		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1508C>A	8.37:g.56922638C>A	ENSP00000428924:p.Ala503Asp		A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.A503D	ENST00000519728.1	37	c.1508	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	C	30	5.053431	0.93793	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.74526	-0.81;-0.85	5.95	5.08	0.68730	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81168	0.4766	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.64321	0.924;0.867	T	0.83304	-0.0026	10	0.87932	D	0	.	15.2698	0.73693	0.0:0.933:0.0:0.067	.	573;503	Q6NUK7;P07948	.;LYN_HUMAN	D	503;482	ENSP00000428924:A503D;ENSP00000428424:A482D	ENSP00000428924:A503D	A	+	2	0	LYN	57085192	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	7.818000	0.86416	1.530000	0.49136	0.655000	0.94253	GCC	LYN	-	superfamily_Kinase-like_dom	ENSG00000254087		0.488	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	51	0.00	0	C	NM_002350		56922638	56922638	+1	no_errors	ENST00000519728	ensembl	human	known	69_37n	missense	22	56.00	28	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133187705	133187705	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr8:133187705C>G	ENST00000388996.4	-	5	1348	c.928G>C	c.(928-930)Ggc>Cgc	p.G310R	KCNQ3_ENST00000521134.1_Missense_Mutation_p.G190R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.G310R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	310			G -> V (in BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2). {ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:9425900}.		axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G310R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTCACCAGGCCCCACCACAGG	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											155.0	136.0	142.0					8																	133187705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.928G>C	8.37:g.133187705C>G	ENSP00000373648:p.Gly310Arg		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G310R	ENST00000388996.4	37	c.928	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938339	0.92526	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97505	-4.41;-4.41;-4.41	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99533	1.0961	10	0.87932	D	0	-22.9479	18.7539	0.91825	0.0:1.0:0.0:0.0	.	310;310	E7ET42;O43525	.;KCNQ3_HUMAN	R	310;190;310;299;189	ENSP00000373648:G310R;ENSP00000429799:G190R;ENSP00000428790:G310R	ENSP00000373648:G310R	G	-	1	0	KCNQ3	133256887	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GGC	KCNQ3	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000184156		0.522	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	430	0.00	0	C	NM_004519		133187705	133187705	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	missense	309	19.27	74	SNP	1.000	G
MLH3	27030	genome.wustl.edu	37	14	75498872	75498872	+	Missense_Mutation	SNP	C	C	G	rs368136738		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr14:75498872C>G	ENST00000556740.1	-	7	3761	c.3726G>C	c.(3724-3726)gaG>gaC	p.E1242D	MLH3_ENST00000556257.1_Intron|MLH3_ENST00000355774.2_Missense_Mutation_p.E1242D|MLH3_ENST00000238662.7_Missense_Mutation_p.E1218D|MLH3_ENST00000380968.2_Missense_Mutation_p.E188D|MLH3_ENST00000544985.1_3'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1242					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.E1242D(1)|p.E1218D(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCTGTTGCTTCTCGTAGGAAT	0.408								Mismatch excision repair (MMR)																														dbGAP											2	Substitution - Missense(2)	breast(2)											109.0	100.0	103.0					14																	75498872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3726G>C	14.37:g.75498872C>G	ENSP00000452316:p.Glu1242Asp		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.E1242D	ENST00000556740.1	37	c.3726	CCDS32123.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.531880|2.531880	0.45073|0.45073	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740|ENST00000553713	T;T;D;T|.	0.83335|.	-0.79;-0.79;-1.71;-0.79|.	5.87|5.87	4.07|4.07	0.47477|0.47477	MutL, C-terminal, dimerisation (2);|.	0.046391|.	0.85682|.	D|.	0.000000|.	T|T	0.56920|0.56920	0.2018|0.2018	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D;B|.	0.89917|.	1.0;0.328|.	D;B|.	0.87578|.	0.998;0.166|.	T|T	0.51756|0.51756	-0.8665|-0.8665	10|5	0.45353|.	T|.	0.12|.	-15.9531|-15.9531	8.2995|8.2995	0.32006|0.32006	0.1275:0.7356:0.0:0.137|0.1275:0.7356:0.0:0.137	.|.	1218;1242|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	D|T	1242;188;1218;1242|266	ENSP00000348020:E1242D;ENSP00000370355:E188D;ENSP00000238662:E1218D;ENSP00000452316:E1242D|.	ENSP00000238662:E1218D|.	E|R	-|-	3|2	2|0	MLH3|MLH3	74568625|74568625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	1.563000|1.563000	0.36364|0.36364	0.843000|0.843000	0.35070|0.35070	-0.140000|-0.140000	0.14226|0.14226	GAG|AGA	MLH3	-	pfam_MutL_C,smart_MutL_C	ENSG00000119684		0.408	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	262	0.00	0	C	NM_014381		75498872	75498872	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	69	40.52	47	SNP	1.000	G
MPDZ	8777	genome.wustl.edu	37	9	13206024	13206025	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr9:13206024_13206025delCA	ENST00000319217.7	-	11	1611_1612	c.1364_1365delTG	c.(1363-1365)gtgfs	p.V455fs	MPDZ_ENST00000447879.1_Frame_Shift_Del_p.V455fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.V455fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.V455fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.V455fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.V455fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.V455fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	455	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.V455fs*31(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGTCAGGAGCACAGTTTGTCC	0.431																																						dbGAP											2	Deletion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1364_1365delTG	9.37:g.13206026_13206027delCA	ENSP00000320006:p.Val455fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Del	DEL	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V455fs	ENST00000319217.7	37	c.1365_1364		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.431	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	295	0.00	0	CA	NM_003829		13206024	13206025	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	frame_shift_del	166	30.00	72	DEL	0.692:0.996	-
MRE11A	4361	genome.wustl.edu	37	11	94194141	94194141	+	Silent	SNP	T	T	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr11:94194141T>C	ENST00000323929.3	-	12	1509	c.1287A>G	c.(1285-1287)gtA>gtG	p.V429V	MRE11A_ENST00000323977.3_Silent_p.V429V|MRE11A_ENST00000393241.4_Silent_p.V429V|MRE11A_ENST00000407439.3_Silent_p.V432V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	429					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.V429V(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAAGATCTTCTACCCTTAAAG	0.313								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											2	Substitution - coding silent(2)	breast(2)											102.0	101.0	101.0					11																	94194141		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1287A>G	11.37:g.94194141T>C			O43475	Silent	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.V429	ENST00000323929.3	37	c.1287	CCDS8299.1	11																																																																																			MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11	ENSG00000020922		0.313	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	297	0.00	0	T	NM_005591		94194141	94194141	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	silent	382	54.79	463	SNP	0.980	C
MYPN	84665	genome.wustl.edu	37	10	69948709	69948709	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr10:69948709G>C	ENST00000358913.5	+	13	3239	c.2751G>C	c.(2749-2751)gaG>gaC	p.E917D	MYPN_ENST00000540630.1_Missense_Mutation_p.E917D|MYPN_ENST00000354393.2_Missense_Mutation_p.E642D	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	917					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.E917D(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATGAAATAGAGTTTCGCTTGG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	92.0	93.0					10																	69948709		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2751G>C	10.37:g.69948709G>C	ENSP00000351790:p.Glu917Asp		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E917D	ENST00000358913.5	37	c.2751	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969283	0.74246	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.61392	0.12;0.13;0.11	5.83	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.74647	2.275	0.47547	D	0.999453	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.996;0.996;0.984	T	0.73148	-0.4074	9	.	.	.	.	9.901	0.41348	0.2484:0.0:0.7516:0.0	.	917;642;917	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	D	642;642;917;917	ENSP00000346369:E642D;ENSP00000351790:E917D;ENSP00000441668:E917D	.	E	+	3	2	MYPN	69618715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.936000	0.40183	1.469000	0.48083	0.563000	0.77884	GAG	MYPN	-	NULL	ENSG00000138347		0.408	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	327	0.00	0	G	NM_032578		69948709	69948709	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	missense	472	22.75	139	SNP	1.000	C
NBPF1	55672	genome.wustl.edu	37	1	16905869	16905869	+	Silent	SNP	G	G	A	rs145182526		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:16905869G>A	ENST00000430580.2	-	17	2507	c.1620C>T	c.(1618-1620)aaC>aaT	p.N540N	NBPF1_ENST00000287968.8_5'Flank|NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	540						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCATGCTGACGTTTGTGGCAG	0.488																																						dbGAP											0													8.0	10.0	10.0					1																	16905869		912	2082	2994	-	-	-	SO:0001819	synonymous_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1620C>T	1.37:g.16905869G>A			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	11	0.00	0	G	NM_017940		16905869	16905869	-1	no_errors	ENST00000430580	ensembl	human	known	69_37n	rna	14	36.36	8	SNP	0.241	A
NPY	4852	genome.wustl.edu	37	7	24331283	24331283	+	Splice_Site	SNP	C	C	T	rs369306237		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr7:24331283C>T	ENST00000407573.1	+	5	561	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	NPY_ENST00000242152.2_Splice_Site_p.L91F|NPY_ENST00000405982.1_Splice_Site_p.L91F			P01303	NPY_HUMAN	neuropeptide Y	91					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.L91F(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GTTTTACAGGCTTGAAGACCC	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											234.0	194.0	208.0					7																	24331283		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.270-1C>T	7.37:g.24331283C>T				Missense_Mutation	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.L91F	ENST00000407573.1	37	c.271	CCDS5387.1	7	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672396	0.14776	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.11930	2.73;2.73;2.73	5.42	3.14	0.36123	.	0.747823	0.12652	N	0.450360	T	0.06050	0.0157	.	.	.	0.34923	D	0.748665	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	9	0.13853	T	0.58	-4.6239	1.9301	0.03325	0.2956:0.4376:0.0:0.2667	.	91	P01303	NPY_HUMAN	F	91	ENSP00000242152:L91F;ENSP00000384364:L91F;ENSP00000385282:L91F	ENSP00000242152:L91F	L	+	1	0	NPY	24297808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.439000	0.44846	1.357000	0.45904	0.591000	0.81541	CTT	NPY	-	NULL	ENSG00000122585		0.443	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPY	HGNC	protein_coding	OTTHUMT00000326748.1	269	0.00	0	C	NM_000905	Missense_Mutation	24331283	24331283	+1	no_errors	ENST00000242152	ensembl	human	known	69_37n	missense	217	15.23	39	SNP	1.000	T
NSDHL	50814	genome.wustl.edu	37	X	152036194	152036194	+	Nonsense_Mutation	SNP	C	C	T	rs150512355		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chrX:152036194C>T	ENST00000370274.3	+	7	960	c.766C>T	c.(766-768)Cga>Tga	p.R256*	NSDHL_ENST00000440023.1_Nonsense_Mutation_p.R256*	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	256					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.R256*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCTCCCGAGACTCGAC	0.567																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											100.0	72.0	82.0					X																	152036194		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.766C>T	X.37:g.152036194C>T	ENSP00000359297:p.Arg256*		D3DWT6|O00344	Nonsense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.R256*	ENST00000370274.3	37	c.766	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290124	0.59976	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	.	.	.	5.42	-0.363	0.12556	.	0.742210	0.13409	N	0.390007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-1.9128	4.9855	0.14187	0.5862:0.2188:0.0:0.195	.	.	.	.	X	256	.	ENSP00000359297:R256X	R	+	1	2	NSDHL	151786850	0.000000	0.05858	0.027000	0.17364	0.011000	0.07611	0.505000	0.22642	0.100000	0.17581	0.600000	0.82982	CGA	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct	ENSG00000147383		0.567	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	60	0.00	0	C	NM_015922		152036194	152036194	+1	no_errors	ENST00000370274	ensembl	human	known	69_37n	nonsense	54	10.00	6	SNP	0.001	T
OR1M1	125963	genome.wustl.edu	37	19	9204487	9204487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr19:9204487C>A	ENST00000429566.3	+	1	633	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACTTTCGTGCACGGACACCT	0.562																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											152.0	122.0	133.0					19																	9204487		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.567C>A	19.37:g.9204487C>A	ENSP00000401966:p.Cys189*		B9EHA6|Q6IFJ3|Q96R91	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C189*	ENST00000429566.3	37	c.567	CCDS32896.1	19	.	.	.	.	.	.	.	.	.	.	c	14.64	2.596795	0.46318	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	.	.	.	3.8	0.457	0.16661	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0111	0.30353	0.0:0.7191:0.0:0.2809	.	.	.	.	X	192;189	.	ENSP00000303195:C192X	C	+	3	2	OR1M1	9065487	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	-1.718000	0.01875	0.085000	0.17107	0.645000	0.84053	TGC	OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000170929		0.562	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	83	0.00	0	C			9204487	9204487	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	nonsense	72	23.40	22	SNP	0.083	A
OR2D3	120775	genome.wustl.edu	37	11	6943082	6943082	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr11:6943082A>G	ENST00000317834.3	+	1	878	c.850A>G	c.(850-852)Aaa>Gaa	p.K284E		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K284E(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGACTACAAAAGAACTGGA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	101.0	102.0					11																	6943082		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.850A>G	11.37:g.6943082A>G	ENSP00000320560:p.Lys284Glu		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K284E	ENST00000317834.3	37	c.850	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	A	1.442	-0.567242	0.03910	.	.	ENSG00000178358	ENST00000317834	T	0.00084	8.75	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.299352	0.23847	N	0.043997	T	0.00073	0.0002	N	0.11154	0.105	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.11299	-1.0593	10	0.19147	T	0.46	-9.6425	9.066	0.36465	0.8147:0.1853:0.0:0.0	.	284	Q8NGH3	OR2D3_HUMAN	E	284	ENSP00000320560:K284E	ENSP00000320560:K284E	K	+	1	0	OR2D3	6899658	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.245000	0.18142	2.221000	0.72209	0.533000	0.62120	AAA	OR2D3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178358		0.418	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	136	0.00	0	A	NM_001004684		6943082	6943082	+1	no_errors	ENST00000317834	ensembl	human	known	69_37n	missense	131	37.32	78	SNP	0.004	G
OR5D14	219436	genome.wustl.edu	37	11	55563102	55563102	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr11:55563102A>T	ENST00000335605.1	+	1	71	c.71A>T	c.(70-72)aAg>aTg	p.K24M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K24M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GATTACCCAAAGCTTCAGATT	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	131.0	133.0					11																	55563102		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.71A>T	11.37:g.55563102A>T	ENSP00000334456:p.Lys24Met		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K24M	ENST00000335605.1	37	c.71	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	a	6.547	0.469203	0.12461	.	.	ENSG00000186113	ENST00000335605	T	0.00446	7.39	5.08	3.96	0.45880	.	0.490245	0.16906	N	0.194694	T	0.00356	0.0011	L	0.41492	1.28	0.09310	N	1	B	0.20261	0.043	B	0.14023	0.01	T	0.45920	-0.9228	10	0.87932	D	0	-3.5267	9.4808	0.38900	0.9158:0.0:0.0842:0.0	.	24	Q8NGL3	OR5DE_HUMAN	M	24	ENSP00000334456:K24M	ENSP00000334456:K24M	K	+	2	0	OR5D14	55319678	0.011000	0.17503	0.100000	0.21137	0.010000	0.07245	1.536000	0.36072	0.795000	0.33922	0.523000	0.50628	AAG	OR5D14	-	NULL	ENSG00000186113		0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	83	0.00	0	A	NM_001004735		55563102	55563102	+1	no_errors	ENST00000335605	ensembl	human	known	69_37n	missense	137	18.45	31	SNP	0.138	T
OTOP2	92736	genome.wustl.edu	37	17	72929557	72929557	+	Missense_Mutation	SNP	A	A	T	rs200405827		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr17:72929557A>T	ENST00000580223.1	+	6	1636	c.1606A>T	c.(1606-1608)Atc>Ttc	p.I536F	OTOP3_ENST00000328801.4_5'Flank|OTOP2_ENST00000331427.4_Missense_Mutation_p.I536F			Q7RTS6	OTOP2_HUMAN	otopetrin 2	536						integral component of membrane (GO:0016021)		p.I536F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGGGCGGTCATCGTCAACAT	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											140.0	105.0	117.0					17																	72929557		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1606A>T	17.37:g.72929557A>T	ENSP00000463837:p.Ile536Phe			Missense_Mutation	SNP	pfam_Otopetrin	p.I536F	ENST00000580223.1	37	c.1606	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729465	0.69074	.	.	ENSG00000183034	ENST00000331427	T	0.28895	1.59	4.96	3.8	0.43715	.	0.202957	0.43919	D	0.000514	T	0.53916	0.1826	M	0.81341	2.54	0.49582	D	0.999801	D	0.89917	1.0	D	0.79784	0.993	T	0.58607	-0.7607	10	0.62326	D	0.03	-18.1529	10.5735	0.45214	0.8557:0.0:0.0:0.1443	.	536	Q7RTS6	OTOP2_HUMAN	F	536	ENSP00000332528:I536F	ENSP00000332528:I536F	I	+	1	0	OTOP2	70441152	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	3.554000	0.53720	1.986000	0.57962	0.459000	0.35465	ATC	OTOP2	-	pfam_Otopetrin	ENSG00000183034		0.592	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	49	0.00	0	A	NM_178160		72929557	72929557	+1	no_errors	ENST00000331427	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	T
PARK2	5071	genome.wustl.edu	37	6	161781222	161781222	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr6:161781222C>T	ENST00000366898.1	-	11	1285	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	PARK2_ENST00000366897.1_Missense_Mutation_p.E367K|PARK2_ENST00000366896.1_Missense_Mutation_p.E246K|PARK2_ENST00000338468.3_Missense_Mutation_p.E204K|PARK2_ENST00000366894.1_Missense_Mutation_p.E204K	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	395	REP. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.E395K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCGGCTCTTTCATCGACTCTG	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)	GRCh37	CM080478	PARK2	M							122.0	120.0	120.0					6																	161781222		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1183G>A	6.37:g.161781222C>T	ENSP00000355865:p.Glu395Lys		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup	p.E395K	ENST00000366898.1	37	c.1183	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	C	4.596	0.110812	0.08780	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.92858	-2.8;-2.93;-3.12;-2.52;-2.52	4.89	2.11	0.27256	.	0.258144	0.37012	N	0.002300	T	0.79429	0.4444	M	0.61703	1.905	0.26520	N	0.974441	B;B;B	0.12630	0.0;0.003;0.006	B;B;B	0.12156	0.001;0.007;0.004	T	0.68663	-0.5349	10	0.33141	T	0.24	.	5.7047	0.17901	0.0:0.66:0.1611:0.1789	.	246;367;395	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	K	395;367;246;204;204	ENSP00000355865:E395K;ENSP00000355863:E367K;ENSP00000355862:E246K;ENSP00000355860:E204K;ENSP00000343589:E204K	ENSP00000343589:E204K	E	-	1	0	PARK2	161701212	0.029000	0.19370	0.000000	0.03702	0.049000	0.14656	0.805000	0.27112	0.118000	0.18165	0.643000	0.83706	GAA	PARK2	-	pirsf_Parkin	ENSG00000185345		0.502	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	262	0.00	0	C			161781222	161781222	-1	no_errors	ENST00000366898	ensembl	human	known	69_37n	missense	155	42.80	116	SNP	0.268	T
PARS2	25973	genome.wustl.edu	37	1	55224704	55224704	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:55224704C>T	ENST00000371279.3	-	2	213	c.131G>A	c.(130-132)cGt>cAt	p.R44H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	44					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.R44H(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CTGGAACACACGAGACAGCAG	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											36.0	36.0	36.0					1																	55224704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.131G>A	1.37:g.55224704C>T	ENSP00000360327:p.Arg44His		A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pfscan_aa-tRNA-synth_II,prints_Pro-tRNA-synth_IIa	p.R44H	ENST00000371279.3	37	c.131	CCDS597.1	1	.	.	.	.	.	.	.	.	.	.	C	7.815	0.716624	0.15306	.	.	ENSG00000162396	ENST00000371279	T	0.46819	0.86	5.37	3.15	0.36227	.	0.133205	0.52532	D	0.000080	T	0.39009	0.1062	L	0.52905	1.665	0.23653	N	0.997197	B	0.18461	0.028	B	0.11329	0.006	T	0.37709	-0.9694	10	0.62326	D	0.03	-6.2559	6.5532	0.22446	0.0:0.6863:0.0:0.3137	.	44	Q7L3T8	SYPM_HUMAN	H	44	ENSP00000360327:R44H	ENSP00000360327:R44H	R	-	2	0	PARS2	54997292	0.714000	0.27936	0.057000	0.19452	0.209000	0.24338	1.263000	0.33004	1.268000	0.44264	0.655000	0.94253	CGT	PARS2	-	NULL	ENSG00000162396		0.617	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARS2	HGNC	protein_coding	OTTHUMT00000027436.1	81	0.00	0	C	NM_152268		55224704	55224704	-1	no_errors	ENST00000371279	ensembl	human	known	69_37n	missense	23	57.89	33	SNP	0.201	T
PELP1	27043	genome.wustl.edu	37	17	4576579	4576579	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr17:4576579G>A	ENST00000574876.1	-	15	1828	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	PELP1_ENST00000436683.2_Missense_Mutation_p.A457V|PELP1_ENST00000301396.4_Missense_Mutation_p.A748V|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Missense_Mutation_p.A654V|PELP1_ENST00000269230.7_Missense_Mutation_p.P517S			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	604					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.A654V(1)|p.A748V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGGGAGAAGGCTTGCAGGGC	0.617																																						dbGAP											2	Substitution - Missense(2)	breast(2)											19.0	27.0	24.0					17																	4576579		2129	4250	6379	-	-	-	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1811C>T	17.37:g.4576579G>A	ENSP00000461625:p.Ala604Val		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.A748V	ENST00000574876.1	37	c.2243	CCDS58503.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.649359|1.649359	0.29336|0.29336	.|.	.|.	ENSG00000141456|ENSG00000141456	ENST00000301396;ENST00000436683|ENST00000269230	T;T|T	0.69306|0.40476	-0.39;-0.26|1.03	5.54|5.54	5.54|5.54	0.83059|0.83059	Uncharacterised domain NUC202 (1);|.	0.134868|.	0.51477|.	D|.	0.000095|.	T|T	0.28499|0.28499	0.0705|0.0705	N|N	0.25647|0.25647	0.755|0.755	0.34039|0.34039	D|D	0.654774|0.654774	P;P|.	0.48503|.	0.911;0.911|.	P;P|.	0.49752|.	0.621;0.621|.	T|T	0.17684|0.17684	-1.0361|-1.0361	10|7	0.11182|0.02654	T|T	0.66|1	-21.3983|-21.3983	10.2415|10.2415	0.43314|0.43314	0.0869:0.0:0.9131:0.0|0.0869:0.0:0.9131:0.0	.|.	457;604|.	E7EV54;Q8IZL8|.	.;PELP1_HUMAN|.	V|S	748;457|517	ENSP00000301396:A748V;ENSP00000416231:A457V|ENSP00000269230:P517S	ENSP00000301396:A748V|ENSP00000269230:P517S	A|P	-|-	2|1	0|0	AC091153.1|AC091153.1	4523328|4523328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.928000|3.928000	0.56506|0.56506	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCC|CCT	PELP1	-	pfam_Uncharacterised_NUC202	ENSG00000141456		0.617	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	101	0.00	0	G	NM_014389		4576579	4576579	-1	no_errors	ENST00000301396	ensembl	human	known	69_37n	missense	19	66.07	37	SNP	1.000	A
PIAS3	10401	genome.wustl.edu	37	1	145578592	145578592	+	Intron	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr1:145578592C>T	ENST00000393045.2	+	3	532				PIAS3_ENST00000369299.3_Intron|PIAS3_ENST00000369298.1_Intron	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3						positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTTCTGTGGCTGCCTGTGCA	0.532																																						dbGAP											0													116.0	104.0	108.0					1																	145578592		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.443-45C>T	1.37:g.145578592C>T			Q9UFI3	RNA	SNP	-	NULL	ENST00000393045.2	37	NULL	CCDS920.2	1																																																																																			PIAS3	-	-	ENSG00000131788		0.532	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	307	0.00	0	C	NM_006099		145578592	145578592	+1	no_errors	ENST00000484423	ensembl	human	known	69_37n	rna	419	26.36	150	SNP	0.206	T
PRDM1	639	genome.wustl.edu	37	6	106547224	106547224	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr6:106547224A>G	ENST00000369096.4	+	4	695	c.461A>G	c.(460-462)gAg>gGg	p.E154G	RP1-134E15.3_ENST00000602426.1_RNA|PRDM1_ENST00000369091.2_Missense_Mutation_p.E118G|PRDM1_ENST00000369089.3_Missense_Mutation_p.E20G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	154	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E118G(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTTAATGAAGAGAAAAGCAAC	0.483			"""D, N, Mis, F, S"""		DLBCL																																	dbGAP		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	1	Substitution - Missense(1)	breast(1)											96.0	97.0	97.0					6																	106547224		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.461A>G	6.37:g.106547224A>G	ENSP00000358092:p.Glu154Gly		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.E154G	ENST00000369096.4	37	c.461	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781346	0.49891	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;D;D	0.89485	-0.8;-0.8;-2.52;-2.52	5.76	5.76	0.90799	SET domain (3);	0.347850	0.34531	N	0.003899	T	0.76926	0.4056	N	0.12746	0.255	0.35354	D	0.787657	P;P	0.47962	0.837;0.903	B;B	0.44315	0.446;0.39	D	0.83691	0.0177	10	0.66056	D	0.02	-34.7027	16.0693	0.80911	1.0:0.0:0.0:0.0	.	20;154	Q86WM7;O75626	.;PRDM1_HUMAN	G	118;154;118;33;20	ENSP00000358087:E118G;ENSP00000358092:E154G;ENSP00000399772:E33G;ENSP00000358085:E20G	ENSP00000358085:E20G	E	+	2	0	PRDM1	106653917	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.142000	0.58044	2.194000	0.70268	0.477000	0.44152	GAG	PRDM1	-	pfam_SET_dom,smart_SET_dom,pirsf_Znf_PRDM1,pfscan_SET_dom	ENSG00000057657		0.483	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	154	0.00	0	A			106547224	106547224	+1	no_errors	ENST00000369096	ensembl	human	known	69_37n	missense	193	19.92	48	SNP	1.000	G
PRICKLE3	4007	genome.wustl.edu	37	X	49032341	49032341	+	Missense_Mutation	SNP	C	C	T	rs200820390		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chrX:49032341C>T	ENST00000376317.3	-	9	1623	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PRICKLE3_ENST00000538114.1_Splice_Site_p.R334H|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R442H|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R429H	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	510							zinc ion binding (GO:0008270)	p.R510H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						gtggCGGCGACGGCTGGGGGC	0.672													-|||	1	0.000264901	0.0	0.0	3775	,	,		8500	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	32.0	35.0					X																	49032341		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1529G>A	X.37:g.49032341C>T	ENSP00000365494:p.Arg510His		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R510H	ENST00000376317.3	37	c.1529	CCDS14320.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	-	1.029	-0.682450	0.03353	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	T;T;T;T	0.72505	-0.39;-0.39;-0.39;-0.66	3.79	-4.13	0.03904	.	0.899723	0.09153	N	0.841304	T	0.47284	0.1437	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21484	-1.0244	10	0.27082	T	0.32	-0.5745	5.1957	0.15236	0.1306:0.6269:0.0:0.2425	.	472;429;510	B7Z6S4;B7Z8F2;O43900	.;.;PRIC3_HUMAN	H	510;429;442;334	ENSP00000365494:R510H;ENSP00000441385:R429H;ENSP00000446051:R442H;ENSP00000441743:R334H	ENSP00000365494:R510H	R	-	2	0	PRICKLE3	48919285	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.226000	0.09139	-0.791000	0.04486	-0.433000	0.05886	CGT	PRICKLE3	-	NULL	ENSG00000012211		0.672	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	52	0.00	0	C	NM_006150		49032341	49032341	-1	no_errors	ENST00000376317	ensembl	human	known	69_37n	missense	40	47.44	37	SNP	0.000	T
PROCR	10544	genome.wustl.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T	rs200377875		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|kidney(1)											20.0	17.0	18.0					20																	33762727		2194	4296	6490	-	-	-	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.293G>T	20.37:g.33762727G>T	ENSP00000216968:p.Arg98Leu		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.R98L	ENST00000216968.4	37	c.293	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	g	26.5	4.741327	0.89573	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82984	-1.67	5.22	-10.4	0.00318	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.402480	0.04770	N	0.427767	T	0.71837	0.3387	L	0.51422	1.61	0.09310	N	1	B	0.30179	0.271	B	0.28385	0.089	T	0.61227	-0.7105	10	0.56958	D	0.05	-6.7275	4.9914	0.14216	0.5133:0.0:0.1891:0.2976	.	98	Q9UNN8	EPCR_HUMAN	L	98	ENSP00000216968:R98L	ENSP00000216968:R98L	R	+	2	0	PROCR	33226388	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-3.074000	0.00617	-2.082000	0.00868	0.556000	0.70494	CGC	PROCR	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000101000		0.726	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	31	0.00	0	G			33762727	33762727	+1	no_errors	ENST00000216968	ensembl	human	known	69_37n	missense	190	13.57	30	SNP	0.004	T
RBM26	64062	genome.wustl.edu	37	13	79911273	79911273	+	Silent	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr13:79911273C>T	ENST00000438737.2	-	19	3137	c.2697G>A	c.(2695-2697)acG>acA	p.T899T	RBM26_ENST00000438724.1_Silent_p.T875T|RBM26_ENST00000267229.7_Silent_p.T872T			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	899	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T872T(1)|p.T899T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATCGCTCTCCGTAAATGCAG	0.498																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											100.0	85.0	90.0					13																	79911273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2697G>A	13.37:g.79911273C>T			B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.T899	ENST00000438737.2	37	c.2697		13																																																																																			RBM26	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000139746		0.498	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	138	0.00	0	C	NM_022118		79911273	79911273	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	silent	109	24.83	36	SNP	0.927	T
RNF10	9921	genome.wustl.edu	37	12	121002888	121002888	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr12:121002888G>A	ENST00000325954.4	+	11	2140	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H	RNF10_ENST00000413266.2_Missense_Mutation_p.R565H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	560					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R560H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCGACAGCGTCACAGATAT	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											213.0	199.0	204.0					12																	121002888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1679G>A	12.37:g.121002888G>A	ENSP00000322242:p.Arg560His		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R565H	ENST00000325954.4	37	c.1694	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119872	0.56613	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.71	4.81	0.61882	.	0.049637	0.85682	D	0.000000	T	0.52661	0.1748	M	0.82823	2.61	0.80722	D	1	D;D	0.71674	0.998;0.994	P;P	0.62813	0.907;0.733	T	0.62120	-0.6921	10	0.87932	D	0	.	16.0909	0.81090	0.0:0.0:0.865:0.135	.	565;560	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	H	560;560;565;8;104	ENSP00000322242:R560H;ENSP00000415682:R565H;ENSP00000439221:R8H;ENSP00000439859:R104H	ENSP00000322242:R560H	R	+	2	0	RNF10	119487271	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.793000	0.99091	1.408000	0.46895	-0.182000	0.12963	CGT	RNF10	-	NULL	ENSG00000022840		0.458	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	180	0.00	0	G			121002888	121002888	+1	no_errors	ENST00000413266	ensembl	human	known	69_37n	missense	114	20.83	30	SNP	1.000	A
SDHAP1	255812	genome.wustl.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.552	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	19	0.00	0	A			195711423	195711423	-1	no_errors	ENST00000427841	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	0.011	G
SERPINB3	6317	genome.wustl.edu	37	18	61322965	61322965	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr18:61322965G>C	ENST00000283752.5	-	8	1242	c.1099C>G	c.(1099-1101)Cac>Gac	p.H367D	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.H315D	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	367					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.H367D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGGAAAGGGTGATTACAATGG	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											181.0	177.0	178.0					18																	61322965		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1099C>G	18.37:g.61322965G>C	ENSP00000283752:p.His367Asp		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.H367D	ENST00000283752.5	37	c.1099	CCDS11987.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.071963	0.93950	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84730	-1.89;-1.89	2.96	2.96	0.34315	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.329562	0.22033	N	0.065575	D	0.94955	0.8368	H	0.97896	4.1	0.45194	D	0.998208	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	D	0.96462	0.9342	10	0.87932	D	0	.	14.1257	0.65219	0.0:0.0:1.0:0.0	.	315;367	P29508-2;P29508	.;SPB3_HUMAN	D	367;315	ENSP00000283752:H367D;ENSP00000329498:H315D	ENSP00000283752:H367D	H	-	1	0	SERPINB3	59473945	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	9.338000	0.96553	1.979000	0.57680	0.449000	0.29647	CAC	SERPINB3	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000057149		0.453	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	HGNC	protein_coding	OTTHUMT00000133791.1	234	0.00	0	G	NM_006919		61322965	61322965	-1	no_errors	ENST00000283752	ensembl	human	known	69_37n	missense	300	19.79	74	SNP	1.000	C
SIX5	147912	genome.wustl.edu	37	19	46269231	46269232	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr19:46269231_46269232insG	ENST00000317578.6	-	3	2128_2129	c.1747_1748insC	c.(1747-1749)ctgfs	p.L583fs	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	583					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGGGCCAGGCCGGGGGCT	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1748dupC	19.37:g.46269233_46269233dupG	ENSP00000316842:p.Leu583fs			Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L583fs	ENST00000317578.6	37	c.1748_1747	CCDS12673.1	19																																																																																			SIX5	-	NULL	ENSG00000177045		0.703	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	23	0.00	0	-	NM_175875		46269231	46269232	-1	no_errors	ENST00000317578	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.236:0.236	G
SLC6A10P	386757	genome.wustl.edu	37	16	32893876	32893876	+	RNA	SNP	T	T	C	rs375167306	byFrequency	TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr16:32893876T>C	ENST00000330048.5	-	0	1381					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GACAGGGGACTGGCGGTCAGC	0.612													.|||	1546	0.308706	0.4402	0.1988	5008	,	,		27697	0.2063		0.2624	False		,,,				2504	0.362					dbGAP											0																																										-	-	-			0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893876T>C				RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.612	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	20	0.00	0	T			32893876	32893876	-1	no_errors	ENST00000330048	ensembl	human	known	69_37n	rna	4	33.33	2	SNP	0.959	C
SP3	6670	genome.wustl.edu	37	2	174820722	174820722	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:174820722A>C	ENST00000310015.6	-	4	1048	c.518T>G	c.(517-519)aTa>aGa	p.I173R	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Missense_Mutation_p.I120R|SP3_ENST00000418194.2_Missense_Mutation_p.I105R	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	173	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.I173R(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GATCTGTGGTATCACTTGATA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											245.0	238.0	240.0					2																	174820722		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.518T>G	2.37:g.174820722A>C	ENSP00000310301:p.Ile173Arg		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I173R	ENST00000310015.6	37	c.518	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.76|17.76	3.468086|3.468086	0.63625|0.63625	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.15952|.	2.39;2.39;2.38|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.83275|.	0.991;0.956;0.996|.	T|T	0.75605|0.75605	-0.3260|-0.3260	10|5	0.87932|.	D|.	0|.	.|.	16.4069|16.4069	0.83677|0.83677	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	170;173;120|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	R|D	173;120;105|130	ENSP00000310301:I173R;ENSP00000388903:I120R;ENSP00000406140:I105R|.	ENSP00000310301:I173R|.	I|Y	-|-	2|1	0|0	SP3|SP3	174528968|174528968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.930000|8.930000	0.92872|0.92872	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	ATA|TAC	SP3	-	superfamily_Galactose-bd-like	ENSG00000172845		0.408	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	131	0.00	0	A	NM_003111		174820722	174820722	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	missense	108	30.57	48	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30750833	30750833	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr16:30750833C>G	ENST00000262518.4	+	34	9857	c.9472C>G	c.(9472-9474)Cag>Gag	p.Q3158E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q3096E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q3000E|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3158					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q3158E(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGGCCGCCTACAGCCCCCAAG	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											14.0	17.0	16.0					16																	30750833		2195	4296	6491	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9472C>G	16.37:g.30750833C>G	ENSP00000262518:p.Gln3158Glu		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.Q3158E	ENST00000262518.4	37	c.9472	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	9.973	1.226124	0.22542	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91792	-2.88;-2.91;-2.9	4.97	4.97	0.65823	.	0.158118	0.30011	N	0.010636	D	0.83801	0.5333	N	0.08118	0	0.25814	N	0.984367	B;B	0.27732	0.187;0.118	B;B	0.25140	0.058;0.026	T	0.78450	-0.2199	10	0.72032	D	0.01	-9.2798	15.2431	0.73485	0.0:1.0:0.0:0.0	.	3096;3158	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	E	3158;3096;3000	ENSP00000262518:Q3158E;ENSP00000378499:Q3096E;ENSP00000343042:Q3000E	ENSP00000262518:Q3158E	Q	+	1	0	SRCAP	30658334	0.989000	0.36119	0.954000	0.39281	0.985000	0.73830	3.835000	0.55805	2.584000	0.87258	0.462000	0.41574	CAG	SRCAP	-	NULL	ENSG00000080603		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	15	0.00	0	C	NM_006662		30750833	30750833	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.989	G
STAG2	10735	genome.wustl.edu	37	X	123195113	123195113	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chrX:123195113G>A	ENST00000371160.1	+	16	1746	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	STAG2_ENST00000354548.5_Missense_Mutation_p.D417N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.D486N|STAG2_ENST00000218089.9_Missense_Mutation_p.D486N|STAG2_ENST00000371145.3_Missense_Mutation_p.D486N|STAG2_ENST00000371144.3_Missense_Mutation_p.D486N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	486					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.D486N(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGCATGTGGGACTGTGCTAC	0.388																																						dbGAP											2	Substitution - Missense(2)	breast(2)											208.0	174.0	186.0					X																	123195113		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1456G>A	X.37:g.123195113G>A	ENSP00000360202:p.Asp486Asn		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.D486N	ENST00000371160.1	37	c.1456	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.553973	0.96501	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.53206	1.66;0.63;1.27;1.26;1.26;1.66;1.26	5.28	5.28	0.74379	Armadillo-type fold (1);	0.047893	0.85682	D	0.000000	T	0.63663	0.2530	M	0.72576	2.205	0.80722	D	1	P;P	0.52577	0.954;0.923	P;P	0.55508	0.777;0.603	T	0.65162	-0.6235	10	0.46703	T	0.11	-9.1829	18.1776	0.89766	0.0:0.0:1.0:0.0	.	486;486	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	N	486;486;417;486;486;486;486	ENSP00000218089:D486N;ENSP00000397265:D486N;ENSP00000346555:D417N;ENSP00000360202:D486N;ENSP00000360199:D486N;ENSP00000360187:D486N;ENSP00000360186:D486N	ENSP00000218089:D486N	D	+	1	0	STAG2	123022794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.317000	0.78254	0.544000	0.68410	GAC	STAG2	-	superfamily_ARM-type_fold	ENSG00000101972		0.388	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	177	0.00	0	G	NM_006603		123195113	123195113	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	160	18.78	37	SNP	1.000	A
STAG3L3	442578	genome.wustl.edu	37	7	72470053	72470053	+	RNA	SNP	G	G	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr7:72470053G>T	ENST00000428423.1	-	0	548							P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3							nucleus (GO:0005634)		p.I96I(1)		breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				CTCTGTCCATGATCATGGAAA	0.463																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											383.0	289.0	321.0					7																	72470053		2202	4298	6500	-	-	-			0					7q11.23	2014-02-20			ENSG00000174353	ENSG00000174353			33845	other	unknown							Standard	NR_040582		Approved		uc022afp.1	P0CL85	OTTHUMG00000157064		7.37:g.72470053G>T			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Silent	SNP	superfamily_ARM-type_fold	p.I96	ENST00000428423.1	37	c.288		7																																																																																			STAG3L3	-	superfamily_ARM-type_fold	ENSG00000174353		0.463	STAG3L3-004	KNOWN	basic	processed_transcript	STAG3L3	HGNC	pseudogene	OTTHUMT00000347342.1	1604	0.00	0	G	NM_001013739		72470053	72470053	-1	no_errors	ENST00000308103	ensembl	human	known	69_37n	silent	869	12.90	129	SNP	0.980	T
STAT4	6775	genome.wustl.edu	37	2	191896229	191896229	+	Silent	SNP	T	T	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:191896229T>A	ENST00000392320.2	-	22	2372	c.2058A>T	c.(2056-2058)acA>acT	p.T686T	STAT4_ENST00000358470.4_Silent_p.T686T|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	686					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)	p.T686T(1)		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)			CACCCCTTTCTGTTGGTCTTG	0.318																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											86.0	83.0	84.0					2																	191896229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2058A>T	2.37:g.191896229T>A			Q96NZ6	Silent	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.T686	ENST00000392320.2	37	c.2058	CCDS2310.1	2																																																																																			STAT4	-	NULL	ENSG00000138378		0.318	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	397	0.00	0	T	NM_003151		191896229	191896229	-1	no_errors	ENST00000358470	ensembl	human	known	69_37n	silent	212	26.64	77	SNP	1.000	A
SVOP	55530	genome.wustl.edu	37	12	109334559	109334559	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr12:109334559C>T	ENST00000299134.5	-	6	572		c.e6+1			NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)							cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)	p.?(2)		breast(2)|lung(4)	6						AGGATACCTACGAAACACAGC	0.537																																						dbGAP											2	Unknown(2)	breast(2)											105.0	95.0	98.0					12																	109334559		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.572+1G>A	12.37:g.109334559C>T			Q9NPW5	Splice_Site	SNP	-	e6+1	ENST00000299134.5	37	c.572+1		12	.	.	.	.	.	.	.	.	.	.	.	24.3	4.514300	0.85389	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8883	0.86081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVOP	.	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.128000	0.77217	2.580000	0.87095	0.556000	0.70494	.	SVOP	-	-	ENSG00000166111		0.537	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	SVOP	HGNC	protein_coding	OTTHUMT00000403982.1	229	0.00	0	C	NM_018711	Intron	109334559	109334559	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000299134	ensembl	human	known	69_37n	splice_site	174	35.79	97	SNP	1.000	T
TBC1D28	254272	genome.wustl.edu	37	17	18544650	18544650	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr17:18544650C>T	ENST00000345096.4	-	3	715	c.16G>A	c.(16-18)Gac>Aac	p.D6N	TBC1D28_ENST00000575570.1_5'Flank|TBC1D28_ENST00000405044.1_Missense_Mutation_p.D6N			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	6							Rab GTPase activator activity (GO:0005097)	p.D6N(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TTATCCGGGTCCTCATCCATC	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											131.0	143.0	139.0					17																	18544650		2026	4183	6209	-	-	-	SO:0001583	missense	0				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.16G>A	17.37:g.18544650C>T	ENSP00000339973:p.Asp6Asn		Q2M2E1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom	p.D6N	ENST00000345096.4	37	c.16	CCDS42273.1	17	.	.	.	.	.	.	.	.	.	.	N	4.283	0.051714	0.08291	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	.	.	.	0.587	0.587	0.17439	.	0.068615	0.56097	U	0.000030	T	0.24509	0.0594	L	0.58510	1.815	0.24107	N	0.995851	P	0.41524	0.753	B	0.29267	0.1	T	0.19976	-1.0289	8	0.52906	T	0.07	.	.	.	.	.	6	Q2M2D7	TBC28_HUMAN	N	6	.	ENSP00000339973:D6N	D	-	1	0	TBC1D28	18485375	0.022000	0.18835	0.034000	0.17996	0.009000	0.06853	0.724000	0.25954	0.580000	0.29522	0.298000	0.19748	GAC	TBC1D28	-	NULL	ENSG00000189375		0.567	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D28	HGNC	protein_coding	OTTHUMT00000130672.2	130	0.00	0	C	NM_001039397		18544650	18544650	-1	no_errors	ENST00000345096	ensembl	human	known	69_37n	missense	94	14.41	16	SNP	0.665	T
TMEM182	130827	genome.wustl.edu	37	2	103414461	103414461	+	Splice_Site	SNP	T	T	C			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:103414461T>C	ENST00000412401.2	+	4	674		c.e4+2		TMEM182_ENST00000409173.1_Splice_Site|TMEM182_ENST00000409528.1_Splice_Site|TMEM182_ENST00000486293.1_Splice_Site	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTGCTGCAGGTACGTACGGTG	0.448																																						dbGAP											1	Unknown(1)	breast(1)											96.0	96.0	96.0					2																	103414461		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.469+2T>C	2.37:g.103414461T>C			C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Splice_Site	SNP	-	e4+2	ENST00000412401.2	37	c.469+2	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	T	12.12	1.844021	0.32606	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4223	0.75022	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM182	102780893	1.000000	0.71417	0.987000	0.45799	0.155000	0.21991	7.275000	0.78548	2.112000	0.64535	0.533000	0.62120	.	TMEM182	-	-	ENSG00000170417		0.448	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	136	0.00	0	T	NM_144632	Intron	103414461	103414461	+1	no_errors	ENST00000412401	ensembl	human	known	69_37n	splice_site	72	30.77	32	SNP	1.000	C
TMTC4	84899	genome.wustl.edu	37	13	101288959	101288959	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr13:101288959C>A	ENST00000376234.3	-	9	1161	c.972G>T	c.(970-972)ttG>ttT	p.L324F	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.L343F|TMTC4_ENST00000328767.5_Missense_Mutation_p.L213F	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	324						integral component of membrane (GO:0016021)		p.L343F(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGGCATTCAATGAATAGT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	104.0	105.0					13																	101288959		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.972G>T	13.37:g.101288959C>A	ENSP00000365408:p.Leu324Phe		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L343F	ENST00000376234.3	37	c.1029	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970859	0.74246	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.43688	0.94;0.94;0.94	6.17	5.31	0.75309	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	N	0.25144	0.715	0.58432	D	0.999999	P;P;P;P	0.49862	0.793;0.811;0.929;0.48	P;P;P;B	0.58391	0.53;0.749;0.838;0.413	T	0.41787	-0.9489	10	0.33141	T	0.24	.	17.5067	0.87748	0.0:0.8761:0.1239:0.0	.	213;324;324;343	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	F	324;343;213	ENSP00000365408:L324F;ENSP00000343871:L343F;ENSP00000365409:L213F	ENSP00000365409:L213F	L	-	3	2	TMTC4	100086960	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.573000	0.46007	1.578000	0.49821	0.655000	0.94253	TTG	TMTC4	-	pfam_DUF1736	ENSG00000125247		0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	170	0.00	0	C	NM_032813		101288959	101288959	-1	no_errors	ENST00000342624	ensembl	human	known	69_37n	missense	83	18.45	19	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	rs587781991		TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	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"""	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50.0	50.0	50.0					17																	7578526		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.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr		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.C135Y	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	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	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	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	138	0.00	0	C	NM_000546		7578526	7578526	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	59	48.28	56	SNP	1.000	T
TRO	7216	genome.wustl.edu	37	X	54955699	54955699	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chrX:54955699G>A	ENST00000173898.7	+	12	2654	c.2542G>A	c.(2542-2544)Ggc>Agc	p.G848S	TRO_ENST00000420798.2_Missense_Mutation_p.G379S|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G451S|TRO_ENST00000399736.1_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	848	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G848S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCCAGCTCTGGCTTTGGAGG	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											39.0	36.0	37.0					X																	54955699		2183	4261	6444	-	-	-	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2542G>A	X.37:g.54955699G>A	ENSP00000173898:p.Gly848Ser		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G848S	ENST00000173898.7	37	c.2542	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284020	0.23392	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.02709	4.19;4.19;4.19	2.98	1.17	0.20885	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.25172	N	0.990276	B;B	0.27882	0.192;0.079	B;B	0.18561	0.022;0.02	T	0.49826	-0.8898	9	0.16420	T	0.52	.	6.8843	0.24191	0.234:0.0:0.766:0.0	.	451;848	B1AKE9;Q12816	.;TROP_HUMAN	S	848;379;451	ENSP00000173898:G848S;ENSP00000405126:G379S;ENSP00000364181:G451S	ENSP00000173898:G848S	G	+	1	0	TRO	54972424	0.309000	0.24518	0.948000	0.38648	0.318000	0.28184	0.963000	0.29293	0.176000	0.19873	0.556000	0.70494	GGC	TRO	-	NULL	ENSG00000067445		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	36	0.00	0	G	NM_016157		54955699	54955699	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	0.937	A
TTN	7273	genome.wustl.edu	37	2	179422748	179422748	+	Silent	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:179422748G>A	ENST00000591111.1	-	278	82634	c.82410C>T	c.(82408-82410)gaC>gaT	p.D27470D	TTN_ENST00000342175.6_Silent_p.D20238D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.D29111D|TTN_ENST00000342992.6_Silent_p.D26543D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.D20171D|TTN_ENST00000460472.2_Silent_p.D20046D|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27470					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D20171E(1)|p.D20171D(1)|p.D20238D(1)|p.D20238E(1)|p.D26541E(1)|p.D26541D(1)|p.D26543E(1)|p.D26543D(1)|p.D20046E(1)|p.D20046D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCCCAGCGTCAGCTGTAA	0.458																																						dbGAP											10	Substitution - Missense(5)|Substitution - coding silent(5)	breast(5)|kidney(5)											130.0	128.0	129.0					2																	179422748		1908	4129	6037	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82410C>T	2.37:g.179422748G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D26543	ENST00000591111.1	37	c.79629		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	68	0.00	0	G	NM_133378		179422748	179422748	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	45	28.57	18	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179641907	179641907	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr2:179641907T>A	ENST00000591111.1	-	27	5007	c.4783A>T	c.(4783-4785)Atc>Ttc	p.I1595F	TTN_ENST00000342175.6_Missense_Mutation_p.I1549F|TTN_ENST00000589042.1_Missense_Mutation_p.I1595F|TTN_ENST00000342992.6_Missense_Mutation_p.I1595F|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I1595F|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I1549F|TTN_ENST00000460472.2_Missense_Mutation_p.I1549F			Q8WZ42	TITIN_HUMAN	titin	12450	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I1595F(3)|p.I1549F(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACAATGATGTCACTGTTT	0.368																																						dbGAP											6	Substitution - Missense(6)	breast(6)											168.0	167.0	168.0					2																	179641907		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4783A>T	2.37:g.179641907T>A	ENSP00000465570:p.Ile1595Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I1595F	ENST00000591111.1	37	c.4783		2	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983517	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80259	0.4590	M	0.61703	1.905	0.43448	D	0.995636	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.82161	-0.0594	9	0.87932	D	0	.	16.1346	0.81475	0.0:0.0:0.0:1.0	.	1549;1549;1549;1595;1595	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	1595;1549;1549;1549;1549;1595	ENSP00000343764:I1595F;ENSP00000434586:I1549F;ENSP00000340554:I1549F;ENSP00000352154:I1549F;ENSP00000354117:I1595F	ENSP00000340554:I1549F	I	-	1	0	TTN	179350152	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.978000	0.88095	2.215000	0.71742	0.528000	0.53228	ATC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	275	0.00	0	T	NM_133378		179641907	179641907	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	215	24.48	70	SNP	1.000	A
UGT8	7368	genome.wustl.edu	37	4	115544067	115544067	+	Silent	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr4:115544067C>T	ENST00000310836.6	+	2	553	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	UGT8_ENST00000394511.3_Silent_p.L11L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	11					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.L11L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTTCATTCTCCTGTGGAGTGC	0.398																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											70.0	69.0	70.0					4																	115544067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.31C>T	4.37:g.115544067C>T			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L11	ENST00000310836.6	37	c.31	CCDS3705.1	4																																																																																			UGT8	-	NULL	ENSG00000174607		0.398	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	80	0.00	0	C	NM_003360		115544067	115544067	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	silent	65	24.42	21	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	144832252	144832252	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr6:144832252C>G	ENST00000367545.3	+	34	4937	c.4937C>G	c.(4936-4938)aCc>aGc	p.T1646S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1646	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T1646S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGTGCAATACCTTGATGGTA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											90.0	82.0	85.0					6																	144832252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4937C>G	6.37:g.144832252C>G	ENSP00000356515:p.Thr1646Ser		Q5SYY1|Q5SZ57|Q9UJ40	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,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.T1646S	ENST00000367545.3	37	c.4937	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412010	0.42817	.	.	ENSG00000152818	ENST00000367545	T	0.49432	0.78	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000064	T	0.51075	0.1653	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.43475	-0.9389	10	0.10377	T	0.69	.	19.0868	0.93206	0.0:1.0:0.0:0.0	.	1646	P46939	UTRO_HUMAN	S	1646	ENSP00000356515:T1646S	ENSP00000356515:T1646S	T	+	2	0	UTRN	144873945	0.998000	0.40836	0.059000	0.19551	0.796000	0.44982	5.757000	0.68766	2.503000	0.84419	0.561000	0.74099	ACC	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.393	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	71	0.00	0	C			144832252	144832252	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	121	18.24	27	SNP	0.915	G
UNC93A	54346	genome.wustl.edu	37	6	167709557	167709557	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr6:167709557G>A	ENST00000230256.3	+	3	482	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	UNC93A_ENST00000366829.2_Missense_Mutation_p.G103R|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G103R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCTGGGACTCGGGGCCGCCCC	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											125.0	119.0	121.0					6																	167709557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.307G>A	6.37:g.167709557G>A	ENSP00000230256:p.Gly103Arg		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.G103R	ENST00000230256.3	37	c.307	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140722	0.56936	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.61980	0.06;0.06;0.06	5.29	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83414	0.0029	10	0.72032	D	0.01	-21.2599	12.8297	0.57738	0.0792:0.0:0.9208:0.0	.	103;103	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	R	103	ENSP00000421484:G103R;ENSP00000230256:G103R;ENSP00000355794:G103R	ENSP00000230256:G103R	G	+	1	0	UNC93A	167629547	1.000000	0.71417	0.008000	0.14137	0.163000	0.22366	6.676000	0.74498	1.225000	0.43566	0.655000	0.94253	GGG	UNC93A	-	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.567	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	139	0.00	0	G	NM_018974		167709557	167709557	+1	no_errors	ENST00000230256	ensembl	human	known	69_37n	missense	100	25.37	34	SNP	0.988	A
VCPIP1	80124	genome.wustl.edu	37	8	67547342	67547342	+	Silent	SNP	G	G	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr8:67547342G>A	ENST00000310421.4	-	3	3321	c.3063C>T	c.(3061-3063)aaC>aaT	p.N1021N		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1021					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.N1021N(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGGCAGTTACGTTATGAAGTT	0.428																																					NSCLC(179;265 2915 6144 43644)	dbGAP											1	Substitution - coding silent(1)	breast(1)											197.0	187.0	190.0					8																	67547342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3063C>T	8.37:g.67547342G>A			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	pfam_OTU,pfscan_OTU	p.N1021	ENST00000310421.4	37	c.3063	CCDS6192.1	8																																																																																			VCPIP1	-	NULL	ENSG00000175073		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	116	0.00	0	G			67547342	67547342	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	silent	88	25.42	30	SNP	0.999	A
ZFP64	55734	genome.wustl.edu	37	20	50769440	50769440	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr20:50769440C>A	ENST00000216923.4	-	6	1640	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.D429Y|ZFP64_ENST00000346617.4_Missense_Mutation_p.D377Y	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					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.D431N(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGAGGCATCGCATATATCG	0.562																																						dbGAP											2	Substitution - Missense(2)	lung(2)											66.0	50.0	55.0					20																	50769440		2203	4300	6503	-	-	-	SO:0001583	missense	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.1291G>T	20.37:g.50769440C>A	ENSP00000216923:p.Asp431Tyr		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D431Y	ENST00000216923.4	37	c.1291	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696109	0.30052	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.30714	1.52;1.52;1.52	5.38	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.621864	0.15661	N	0.250922	T	0.57154	0.2034	M	0.80028	2.48	0.49687	D	0.999818	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69307	0.92;0.963;0.963	T	0.61481	-0.7054	10	0.87932	D	0	-7.0702	13.9743	0.64262	0.0:0.927:0.0:0.073	.	377;429;431	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	Y	431;377;429;273;584	ENSP00000216923:D431Y;ENSP00000344615:D377Y;ENSP00000360570:D429Y	ENSP00000216923:D431Y	D	-	1	0	ZFP64	50202847	1.000000	0.71417	0.852000	0.33557	0.011000	0.07611	3.840000	0.55843	1.275000	0.44379	-0.218000	0.12543	GAT	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000020256		0.562	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	34	0.00	0	C	NM_018197		50769440	50769440	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	A
ZNF876P	642280	genome.wustl.edu	37	4	247392	247392	+	RNA	SNP	C	C	T			TCGA-B6-A0I9-01A-11W-A050-09	TCGA-B6-A0I9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d2291482-9bbb-4f8f-a65b-c0737cf3acea	eba08b28-762e-4d9d-a5ee-c180ce7621ec	g.chr4:247392C>T	ENST00000356347.3	+	0	216					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGTGCAGGGCATAGAAGATT	0.338																																						dbGAP											0																																										-	-	-			0			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247392C>T				RNA	SNP	-	NULL	ENST00000356347.3	37	NULL		4																																																																																			ZNF876P	-	-	ENSG00000198155		0.338	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF876P	HGNC	pseudogene	OTTHUMT00000357870.2	33	0.00	0	C	NR_027481		247392	247392	+1	no_errors	ENST00000356347	ensembl	human	known	69_37n	rna	19	24.00	6	SNP	0.003	T
