#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								14012	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0G>A			14012		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.E559K		37	c.1675		MT																																																																																			-	HMMPfam_NADH5_C	0	0					MT-ND5			G			14012	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	A
EXOC3	11336	genome.wustl.edu	37	5	454059	454059	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:454059C>G	ENST00000512944.1	+	4	1128	c.939C>G	c.(937-939)aaC>aaG	p.N313K	EXOC3_ENST00000315013.5_Missense_Mutation_p.N313K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	324					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCTCCTGAACATGTACCACC	0.498																																																0			5											54.0	54.0	54.0					5																	454059		2064	4210	6274	507059	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.939C>G	5.37:g.454059C>G	ENSP00000425587:p.Asn313Lys		507059	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	HMMPfam_Sec6	p.N313K	ENST00000512944.1	37	c.939	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	C	0	-2.611763	0.00120	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06218	3.33;3.33	5.8	1.89	0.25635	.	1.235360	0.05162	N	0.498009	T	0.03305	0.0096	N	0.11427	0.14	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.40979	-0.9534	10	0.06099	T	0.92	-0.0488	5.0846	0.14675	0.2587:0.5282:0.0:0.2131	.	324	O60645	EXOC3_HUMAN	K	313;313;323	ENSP00000425587:N313K;ENSP00000323377:N313K	ENSP00000323377:N313K	N	+	3	2	EXOC3	507059	0.030000	0.19436	0.119000	0.21687	0.604000	0.37047	0.311000	0.19380	0.065000	0.16485	-1.598000	0.00824	AAC	-	HMMPfam_Sec6		0.498	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	protein_coding	OTTHUMT00000367882.1	C	NM_007277		507059	+1	no_errors	NM_007277	genbank	human	reviewed	54_36p	missense	SNP	0.412	G
KCNV2	169522	genome.wustl.edu	37	9	2718278	2718278	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr9:2718278G>C	ENST00000382082.3	+	1	777	c.539G>C	c.(538-540)cGc>cCc	p.R180P		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	180					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGTCCGCGCCGCTTCCTGGAG	0.657																																																0			9											19.0	17.0	18.0					9																	2718278		2200	4290	6490	2708278	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.539G>C	9.37:g.2718278G>C	ENSP00000371514:p.Arg180Pro		2708278	Q5T6X0	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans	p.R180P	ENST00000382082.3	37	c.539	CCDS6447.1	9	.	.	.	.	.	.	.	.	.	.	G	8.191	0.796010	0.16327	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.76839	-1.05	4.91	3.08	0.35506	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.226336	0.52532	D	0.000077	T	0.65460	0.2693	N	0.24115	0.695	0.20926	N	0.99982	P	0.34757	0.467	B	0.36959	0.237	T	0.57051	-0.7877	10	0.46703	T	0.11	.	11.2399	0.48964	0.1354:0.0:0.8646:0.0	.	180	Q8TDN2	KCNV2_HUMAN	P	180	ENSP00000371514:R180P	ENSP00000371514:R180P	R	+	2	0	KCNV2	2708278	0.766000	0.28496	0.611000	0.29010	0.130000	0.20726	1.279000	0.33191	0.492000	0.27815	0.407000	0.27541	CGC	-	superfamily_BTB/POZ_fold,HMMPfam_K_tetra		0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	protein_coding	OTTHUMT00000051528.1	G	NM_133497		2708278	+1	no_errors	NM_133497	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OLFML1	283298	genome.wustl.edu	37	11	7509386	7509386	+	Missense_Mutation	SNP	C	C	T	rs141351486	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:7509386C>T	ENST00000329293.3	+	2	552	c.158C>T	c.(157-159)aCg>aTg	p.T53M	OLFML1_ENST00000530135.1_Missense_Mutation_p.T53M|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	53						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCCAAGCAACGAGGGCATAC	0.358													C|||	6	0.00119808	0.0	0.0014	5008	,	,		18376	0.0		0.003	False		,,,				2504	0.002															0			11						C	MET/THR	3,4399	6.2+/-15.9	0,3,2198	61.0	60.0	60.0		158	5.8	0.9	11	dbSNP_134	60	43,8549	28.5+/-78.6	1,41,4254	yes	missense	OLFML1	NM_198474.3	81	1,44,6452	TT,TC,CC		0.5005,0.0682,0.354	probably-damaging	53/403	7509386	46,12948	2201	4296	6497	7465962	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.158C>T	11.37:g.7509386C>T	ENSP00000332511:p.Thr53Met		7465962	B4DP03|Q569G4	Missense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.T53M	ENST00000329293.3	37	c.158	CCDS7779.1	11	4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	C|C	37|37	6.029571|6.029571	0.97216|0.97216	6.82E-4|6.82E-4	0.005005|0.005005	ENSG00000183801|ENSG00000183801	ENST00000534244|ENST00000530135;ENST00000329293	.|D;D	.|0.88354	.|-2.37;-2.37	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.312904	.|0.31721	.|N	.|0.007169	.|D	.|0.90259	.|0.6954	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.61722	.|0.893;0.893	.|D	.|0.91030	.|0.4863	.|10	0.02654|0.66056	T|D	1|0.02	.|.	15.4679|15.4679	0.75416|0.75416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|53;53	.|Q6UWY5;Q5HYE3	.|OLFL1_HUMAN;.	X|M	52|53	.|ENSP00000433455:T53M;ENSP00000332511:T53M	ENSP00000431558:R52X|ENSP00000332511:T53M	R|T	+|+	1|2	2|0	OLFML1|OLFML1	7465962|7465962	0.676000|0.676000	0.27567|0.27567	0.950000|0.950000	0.38849|0.38849	0.739000|0.739000	0.42172|0.42172	1.470000|1.470000	0.35354|0.35354	2.727000|2.727000	0.93392|0.93392	0.650000|0.650000	0.86243|0.86243	CGA|ACG	-	NULL		0.358	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	protein_coding	OTTHUMT00000384656.1	C	NM_198474		7465962	+1	no_errors	NM_198474	genbank	human	provisional	54_36p	missense	SNP	0.993	T
MYH3	4621	genome.wustl.edu	37	17	10541560	10541560	+	Silent	SNP	T	T	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:10541560T>G	ENST00000583535.1	-	27	3616	c.3529A>C	c.(3529-3531)Agg>Cgg	p.R1177R	MYH3_ENST00000226209.7_Silent_p.R1177R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1177					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCAGGTCCCTGCGCAGCTTC	0.637																																																0			17											76.0	65.0	69.0					17																	10541560		2203	4300	6503	10482285	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3529A>C	17.37:g.10541560T>G			10482285	Q15492	Silent	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.R1177	ENST00000583535.1	37	c.3529	CCDS11157.1	17																																																																																			-	HMMPfam_Myosin_tail_1		0.637	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	T	NM_002470		10482285	-1	no_errors	NM_002470	genbank	human	reviewed	54_36p	silent	SNP	0.771	G
PRAMEF7	441871	genome.wustl.edu	37	1	12980140	12980140	+	Silent	SNP	G	G	A	rs147766966	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:12980140G>A	ENST00000361079.2	+	4	1415	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	444					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTTAAGGCAGCCCAAGA	0.582													g|||	11	0.00219649	0.0083	0.0	5008	,	,		13888	0.0		0.0	False		,,,				2504	0.0															0			1						G		8,3684		2,4,1840	104.0	101.0	102.0		1332	-3.0	0.0	1	dbSNP_134	102	0,7494		0,0,3747	no	coding-synonymous	PRAMEF7	NM_001012277.1		2,4,5587	AA,AG,GG		0.0,0.2167,0.0715		444/475	12980140	8,11178	1846	3747	5593	12902727	SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1332G>A	1.37:g.12980140G>A			12902727	B9EIP0	Silent	SNP	superfamily_RNI-like	p.R444	ENST00000361079.2	37	c.1332	CCDS30593.1	1																																																																																			-	NULL		0.582	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	protein_coding		G	NM_001012277		12902727	+1	no_errors	NM_001012277	genbank	human	provisional	54_36p	silent	SNP	0.000	A
WIZ	58525	genome.wustl.edu	37	19	15559002	15559002	+	Silent	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:15559002C>A	ENST00000389282.4	-	2	330	c.117G>T	c.(115-117)ggG>ggT	p.G39G	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Silent_p.G39G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	39					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGCCACCTTCCCCCTCAGCAG	0.642																																																0			19											62.0	69.0	67.0					19																	15559002		1983	4130	6113	15420002	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.117G>T	19.37:g.15559002C>A			15420002	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G39	ENST00000389282.4	37	c.117		19																																																																																			-	NULL		0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	protein_coding		C	NM_021241		15420002	-1	no_errors	NM_021241	genbank	human	validated	54_36p	silent	SNP	0.998	A
BASP1	10409	genome.wustl.edu	37	5	17275538	17275538	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:17275538C>T	ENST00000322611.3	+	2	473	c.213C>T	c.(211-213)ggC>ggT	p.G71G		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	71					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGAAGGAGGGCGAGAAGGACG	0.736																																																0			5											20.0	28.0	25.0					5																	17275538		2139	4173	6312	17328538	SO:0001819	synonymous_variant	10409			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.213C>T	5.37:g.17275538C>T			17328538	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	HMMPfam_BASP1	p.G71	ENST00000322611.3	37	c.213	CCDS3888.1	5																																																																																			-	HMMPfam_BASP1		0.736	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BASP1	protein_coding	OTTHUMT00000253716.2	C			17328538	+1	no_errors	NM_006317	genbank	human	reviewed	54_36p	silent	SNP	0.957	T
ZNF626	199777	genome.wustl.edu	37	19	20808430	20808430	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:20808430G>T	ENST00000601440.1	-	4	399	c.253C>A	c.(253-255)Ctt>Att	p.L85I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTGGCCAAAGGTCTTGGGCA	0.308																																																0			19											48.0	54.0	52.0					19																	20808430		2168	4281	6449	20600270	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.253C>A	19.37:g.20808430G>T	ENSP00000469958:p.Leu85Ile		20600270	Q8N8T4|Q96QM1	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.L85I	ENST00000601440.1	37	c.253	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	9.062	0.994705	0.19043	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.494	-0.987	0.10249	.	.	.	.	.	T	0.44244	0.1284	M	0.62088	1.915	0.19575	N	0.999967	P	0.46706	0.883	P	0.50860	0.652	T	0.32824	-0.9892	8	0.41790	T	0.15	.	4.9799	0.14160	0.0:0.0:0.658:0.342	.	85	Q68DY1	ZN626_HUMAN	I	85;9;85	.	ENSP00000445201:L85I	L	-	1	0	ZNF626	20600270	0.003000	0.15002	0.042000	0.18584	0.440000	0.31957	-0.875000	0.04205	-0.509000	0.06532	0.289000	0.19496	CTT	-	NULL		0.308	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	protein_coding	OTTHUMT00000447845.2	G	NM_145297		20600270	-1	no_errors	NM_001076675	genbank	human	validated	54_36p	missense	SNP	0.001	T
EPHB2	2048	genome.wustl.edu	37	1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	rs139122679		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:23110993C>T	ENST00000400191.3	+	3	253	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	79	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R79W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577																																																1	Substitution - Missense(1)	prostate(1)	1						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	65.0	59.0	61.0		235,235	4.4	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	79/988,79/987	23110993	1,13005	2203	4300	6503	22983580	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.235C>T	1.37:g.23110993C>T	ENSP00000383053:p.Arg79Trp		22983580	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_1	p.R79W	ENST00000400191.3	37	c.235		1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524929	0.44969	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81	5.29	4.38	0.52667	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B	0.26318	0.146;0.014;0.014;0.011	B;B;B;B	0.25614	0.062;0.013;0.013;0.008	T	0.53436	-0.8439	10	0.33141	T	0.24	.	14.8179	0.70048	0.0:0.855:0.145:0.0	.	79;79;97;79	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	79;79;79;79;79;73	ENSP00000444174:R79W;ENSP00000363761:R79W;ENSP00000383053:R79W;ENSP00000363763:R79W;ENSP00000363758:R73W	ENSP00000363755:R79W	R	+	1	2	EPHB2	22983580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.609000	0.54117	1.460000	0.47911	0.484000	0.47621	CGG	-	superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd		0.577	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	protein_coding	OTTHUMT00000008060.2	C	NM_017449		22983580	+1	no_errors	NM_004442	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GGT1	2678	genome.wustl.edu	37	22	25011040	25011040	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr22:25011040G>A	ENST00000400382.1	+	7	1083	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	GGT1_ENST00000406383.2_Missense_Mutation_p.A110T|GGT1_ENST00000400380.1_Missense_Mutation_p.A110T|GGT1_ENST00000400383.1_Missense_Mutation_p.A110T|GGT1_ENST00000248923.4_Missense_Mutation_p.A110T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	110					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCGCGAGGTGGCCCCCAGGCT	0.632																																																0			22											23.0	24.0	24.0					22																	25011040		1886	4108	5994	23341040	SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.328G>A	22.37:g.25011040G>A	ENSP00000383232:p.Ala110Thr		23341040	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE	p.A110T	ENST00000400382.1	37	c.328	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	28.2	4.899490	0.91962	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	3.62	3.62	0.41486	.	0.000000	0.85682	U	0.000000	T	0.53238	0.1784	H	0.97983	4.12	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.74057	-0.3787	10	0.87932	D	0	-7.1875	15.1038	0.72303	0.0:0.0:1.0:0.0	.	110	P19440	GGT1_HUMAN	T	110	ENSP00000248923:A110T;ENSP00000389935:A110T;ENSP00000393537:A110T;ENSP00000395271:A110T;ENSP00000383232:A110T;ENSP00000415553:A110T;ENSP00000383233:A110T;ENSP00000383231:A110T;ENSP00000400621:A110T;ENSP00000398589:A110T;ENSP00000387796:A110T;ENSP00000385975:A110T;ENSP00000415068:A110T	ENSP00000248923:A110T	A	+	1	0	GGT1	23341040	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	8.379000	0.90146	1.940000	0.56252	0.455000	0.32223	GCC	-	HMMPfam_G_glu_transpept		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	protein_coding	OTTHUMT00000250797.1	G	NM_013430		23341040	+1	no_errors	NM_001032364	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ITSN2	50618	genome.wustl.edu	37	2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:24432884G>C	ENST00000355123.4	-	35	4719	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L1399V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1426					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478																																																0			2											104.0	105.0	105.0					2																	24432884		2203	4300	6503	24286388	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4276C>G	2.37:g.24432884G>C	ENSP00000347244:p.Leu1426Val		24286388	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00027,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.L1425V	ENST00000355123.4	37	c.4273	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548690	0.13312	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.41400	1.0;1.0;1.0	4.26	4.26	0.50523	Pleckstrin homology-type (1);	0.000000	0.32055	U	0.006657	T	0.45115	0.1326	L	0.46885	1.475	0.43211	D	0.995072	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.28870	-1.0030	10	0.10377	T	0.69	.	17.0717	0.86576	0.0:0.0:1.0:0.0	.	1399;1426	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	V	1399;1426;1399	ENSP00000354561:L1399V;ENSP00000347244:L1426V;ENSP00000370250:L1399V	ENSP00000347244:L1426V	L	-	1	0	ITSN2	24286388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.102000	0.63906	0.455000	0.32223	CTC	-	superfamily_PH domain-like		0.478	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	protein_coding	OTTHUMT00000207620.2	G	NM_006277		24286388	-1	no_errors	NM_006277	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
EVI2A	2123	genome.wustl.edu	37	17	29645370	29645370	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:29645370C>A	ENST00000462804.2	-	2	1061	c.662G>T	c.(661-663)aGa>aTa	p.R221I	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.R221I|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.K160N|EVI2A_ENST00000247270.3_Missense_Mutation_p.R244I	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	221					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCATCTTTTCTTTCCCTTGT	0.403																																																11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											91.0	84.0	86.0					17																	29645370		2203	4300	6503	26669496	SO:0001583	missense	2123			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.662G>T	17.37:g.29645370C>A	ENSP00000420557:p.Arg221Ile		26669496	B2R5X2|B4DHX8	Missense_Mutation	SNP	HMMPfam_EVI2A	p.R244I	ENST00000462804.2	37	c.731	CCDS42293.1	17	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507579	0.44558	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	3.73	0.42828	.	0.280007	0.35903	N	0.002908	T	0.66036	0.2749	L	0.60455	1.87	0.40756	D	0.982961	D;D	0.58970	0.984;0.98	P;P	0.60541	0.876;0.804	T	0.67321	-0.5700	9	0.72032	D	0.01	.	8.6256	0.33888	0.0:0.7334:0.1257:0.1409	.	221;244	P22794;P22794-2	EVI2A_HUMAN;.	I	221;217;221;244	.	ENSP00000247270:R244I	R	-	2	0	EVI2A	26669496	0.990000	0.36364	0.982000	0.44146	0.798000	0.45092	0.775000	0.26689	0.768000	0.33290	0.655000	0.94253	AGA	-	HMMPfam_EVI2A		0.403	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	EVI2A	protein_coding	OTTHUMT00000354491.3	C	NM_014210		26669496	-1	no_errors	NM_001003927	genbank	human	validated	54_36p	missense	SNP	0.540	A
HIST1H2BK	85236	genome.wustl.edu	37	6	27114224	27114224	+	Silent	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:27114224G>A	ENST00000356950.1	-	1	353	c.354C>T	c.(352-354)gcC>gcT	p.A118A	HIST1H2BK_ENST00000396891.4_Silent_p.A118A|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	118					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTGGTGACGGCCTTGGTGC	0.557																																																0			6											74.0	81.0	79.0					6																	27114224		2202	4297	6499	27222203	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.354C>T	6.37:g.27114224G>A			27222203	A8K7P7|Q2VPI7	Silent	SNP	superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.A118	ENST00000356950.1	37	c.354	CCDS4621.1	6																																																																																			-	superfamily_Histone-fold,HMMSmart_SM00427		0.557	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	protein_coding	OTTHUMT00000040141.1	G	NM_080593		27222203	-1	no_errors	NM_080593	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CCDC34	91057	genome.wustl.edu	37	11	27360369	27360369	+	Nonstop_Mutation	SNP	T	T	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:27360369T>A	ENST00000328697.6	-	6	1794	c.1121A>T	c.(1120-1122)tAg>tTg	p.*374L	CCDC34_ENST00000529615.1_Intron	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	0										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCACATACGCTATCTTTGTAT	0.348																																																0			11											114.0	111.0	112.0					11																	27360369		2202	4299	6501	27316945	SO:0001578	stop_lost	91057			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.1121A>T	11.37:g.27360369T>A			27316945	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Nonstop_Mutation	SNP	NULL	p.*374L	ENST00000328697.6	37	c.1121	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600710	0.66332	.	.	ENSG00000109881	ENST00000328697	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5408	0.39251	0.0:0.0789:0.0:0.9211	.	.	.	.	L	374	.	.	X	-	2	0	CCDC34	27316945	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.868000	0.56055	2.235000	0.73313	0.473000	0.43528	TAG	-	NULL		0.348	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	protein_coding	OTTHUMT00000388396.2	T	NM_030771		27316945	-1	no_errors	NM_030771	genbank	human	validated	54_36p	nonstop	SNP	0.952	A
LRRC37A6P	387646	genome.wustl.edu	37	10	27538378	27538378	+	lincRNA	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr10:27538378G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTGGATTCTGGAGTGGTGGTA	0.522																																																0			10											132.0	116.0	121.0					10																	27538378		692	1591	2283	27578384			387646																															10.37:g.27538378G>A			27578384		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			-	-		0.522	RP11-85G18.6-001	KNOWN	basic	lincRNA	LOC387646	lincRNA	OTTHUMT00000436904.1	G			27578384	-1	pseudogene	NR_003525	genbank	human	provisional	54_36p	rna	SNP	0.621	A
HIST1H4K	8362	genome.wustl.edu	37	6	27799058	27799058	+	Missense_Mutation	SNP	G	G	T	rs561516608|rs372460457	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:27799058G>T	ENST00000357549.2	-	1	247	c.248C>A	c.(247-249)aCc>aAc	p.T83N		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	83					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						ATCCATGGCGGTGACCGTCTT	0.592																																																0			6											25.0	27.0	26.0					6																	27799058		2199	4276	6475	27907037	SO:0001583	missense	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.248C>A	6.37:g.27799058G>T	ENSP00000350159:p.Thr83Asn		27907037	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803	p.T83N	ENST00000357549.2	37	c.248	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	28.9	4.959418	0.92726	.	.	ENSG00000197914	ENST00000357549	T	0.72394	-0.65	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000047	T	0.77123	0.4084	.	.	.	0.38745	D	0.953985	.	.	.	.	.	.	T	0.81833	-0.0751	7	0.87932	D	0	.	16.0265	0.80548	0.0:0.0:1.0:0.0	.	.	.	.	N	83	ENSP00000350159:T83N	ENSP00000350159:T83N	T	-	2	0	HIST1H4K	27907037	1.000000	0.71417	0.913000	0.36048	0.894000	0.52154	6.938000	0.75904	2.064000	0.61679	0.650000	0.86243	ACC	-	superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803		0.592	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	protein_coding	OTTHUMT00000040156.1	G	NM_003541		27907037	-1	no_errors	NM_003541	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
OR2J2	26707	genome.wustl.edu	37	6	29142134	29142134	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:29142134C>T	ENST00000377167.2	+	1	824	c.722C>T	c.(721-723)aCa>aTa	p.T241I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTGTTTAGGACATGTGGAGCC	0.463																																																0			6											136.0	120.0	125.0					6																	29142134		1939	4139	6078	29250113	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.722C>T	6.37:g.29142134C>T	ENSP00000366372:p.Thr241Ile		29250113	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T241I	ENST00000377167.2	37	c.722	CCDS43434.1	6	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080209	0.20309	.	.	ENSG00000204700	ENST00000377167	T	0.42513	0.97	2.0	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58850	0.2151	H	0.94658	3.565	0.25814	N	0.98437	D	0.54397	0.966	P	0.61874	0.895	T	0.51450	-0.8704	9	0.72032	D	0.01	.	10.7841	0.46395	0.0:1.0:0.0:0.0	.	241	O76002	OR2J2_HUMAN	I	241	ENSP00000366372:T241I	ENSP00000366372:T241I	T	+	2	0	OR2J2	29250113	0.760000	0.28428	0.615000	0.29064	0.643000	0.38383	0.603000	0.24149	1.101000	0.41535	0.205000	0.17691	ACA	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	protein_coding	OTTHUMT00000076131.2	C			29250113	+1	no_errors	NM_030905	genbank	human	validated	54_36p	missense	SNP	0.964	T
DTNA	1837	genome.wustl.edu	37	18	32392010	32392010	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr18:32392010C>G	ENST00000399113.3	+	5	536	c.536C>G	c.(535-537)aCg>aGg	p.T179R	DTNA_ENST00000598774.1_Missense_Mutation_p.T179R|DTNA_ENST00000399121.5_Missense_Mutation_p.T179R|DTNA_ENST00000598334.1_Missense_Mutation_p.T179R|DTNA_ENST00000595022.1_Missense_Mutation_p.T179R|DTNA_ENST00000597599.1_Missense_Mutation_p.T179R|DTNA_ENST00000269191.6_Missense_Mutation_p.T179R|DTNA_ENST00000348997.5_Missense_Mutation_p.T179R|DTNA_ENST00000444659.1_Missense_Mutation_p.T179R|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000283365.9_Missense_Mutation_p.T179R|DTNA_ENST00000269190.7_Missense_Mutation_p.T179R|DTNA_ENST00000598142.1_Missense_Mutation_p.T179R|DTNA_ENST00000596745.1_Missense_Mutation_p.T179R|DTNA_ENST00000554864.3_Missense_Mutation_p.T179R|DTNA_ENST00000315456.6_Missense_Mutation_p.T179R			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	179	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAACTACCCACGGCAGTTTTT	0.413																																																0			18											116.0	110.0	112.0					18																	32392010		2203	4300	6503	30646008	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.536C>G	18.37:g.32392010C>G	ENSP00000382064:p.Thr179Arg		30646008	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1	p.T179R	ENST00000399113.3	37	c.536	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950047	0.73787	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.8	5.8	0.92144	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.107611	0.64402	D	0.000005	T	0.74435	0.3716	N	0.17838	0.53	0.80722	D	1	D;P;P;D;D;P;D;D;D;D;D;P	0.62365	0.966;0.888;0.92;0.961;0.989;0.92;0.961;0.991;0.965;0.989;0.958;0.917	P;P;P;P;P;P;P;D;P;P;P;P	0.64776	0.574;0.65;0.694;0.895;0.883;0.694;0.886;0.929;0.852;0.831;0.54;0.77	T	0.73244	-0.4044	10	0.35671	T	0.21	-15.007	20.0522	0.97631	0.0:1.0:0.0:0.0	.	179;179;179;179;179;179;179;190;179;179;179;179	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	R	179	ENSP00000283365:T179R;ENSP00000322519:T179R;ENSP00000269190:T179R;ENSP00000336682:T179R;ENSP00000382072:T179R;ENSP00000405819:T179R;ENSP00000269191:T179R;ENSP00000382064:T179R	ENSP00000269190:T179R	T	+	2	0	DTNA	30646008	0.991000	0.36638	0.997000	0.53966	0.720000	0.41350	2.886000	0.48578	2.737000	0.93849	0.563000	0.77884	ACG	-	superfamily_EF-hand,HMMPfam_efhand_2		0.413	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	protein_coding	OTTHUMT00000255422.2	C	NM_001390		30646008	+1	no_errors	NM_001390	genbank	human	reviewed	54_36p	missense	SNP	0.988	G
CCL4	6351	genome.wustl.edu	37	17	34431342	34431342	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:34431342C>T	ENST00000250151.4	+	1	360	c.44C>T	c.(43-45)gCt>gTt	p.A15V	CCL4_ENST00000394495.1_Missense_Mutation_p.A15V	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	15				A -> S (in Ref. 6; AAB00790). {ECO:0000305}.	cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCTAGTAGCTGCCTTCTGC	0.498																																					Colon(139;824 1752 21188 21615 24765)											0			17											531.0	480.0	498.0					17																	34431342		2203	4300	6503	31455455	SO:0001583	missense	6351			M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.44C>T	17.37:g.34431342C>T	ENSP00000250151:p.Ala15Val		31455455	P22617|Q13704|Q3SXL8|Q6FGI8	Missense_Mutation	SNP	HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC	p.A15V	ENST00000250151.4	37	c.44	CCDS11308.1	17	.	.	.	.	.	.	.	.	.	.	.	9.736	1.163504	0.21538	.	.	ENSG00000129277	ENST00000250151;ENST00000394495	T;T	0.71934	4.13;-0.61	5.02	4.03	0.46877	Chemokine interleukin-8-like domain (1);	0.264227	0.25478	U	0.030385	T	0.75503	0.3858	.	.	.	0.22171	N	0.999313	D	0.63880	0.993	D	0.72625	0.978	T	0.62826	-0.6772	9	0.21014	T	0.42	.	9.5239	0.39152	0.0:0.9023:0.0:0.0977	.	15	P13236	CCL4_HUMAN	V	15	ENSP00000250151:A15V;ENSP00000378004:A15V	ENSP00000250151:A15V	A	+	2	0	CCL4	31455455	0.994000	0.37717	0.959000	0.39883	0.059000	0.15707	1.090000	0.30902	2.621000	0.88768	0.552000	0.68991	GCT	-	NULL		0.498	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL4	protein_coding	OTTHUMT00000256592.2	C	NM_002984		31455455	+1	no_errors	NM_002984	genbank	human	validated	54_36p	missense	SNP	0.950	T
SLC39A7	7922	genome.wustl.edu	37	6	33171486	33171486	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:33171486T>G	ENST00000374677.3	+	7	1679	c.1306T>G	c.(1306-1308)Ttg>Gtg	p.L436V	HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.L436V|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	436				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGTGTCTGTGTTGCCCGAGCT	0.562																																																0			6											111.0	114.0	113.0					6																	33171486		2064	4204	6268	33279464	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1306T>G	6.37:g.33171486T>G	ENSP00000363809:p.Leu436Val		33279464	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	HMMPfam_Zip	p.L436V	ENST00000374677.3	37	c.1306	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442609	0.43326	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.60920	0.15;0.15	4.69	-0.423	0.12325	.	0.090054	0.43919	D	0.000518	T	0.34716	0.0907	L	0.37630	1.12	0.47819	D	0.999523	P;P	0.46395	0.877;0.875	P;P	0.52646	0.705;0.705	T	0.21793	-1.0235	10	0.36615	T	0.2	-13.3212	4.2761	0.10809	0.1656:0.3945:0.0:0.4399	.	417;436	B4DVK8;Q92504	.;S39A7_HUMAN	V	436;417;341;436	ENSP00000363807:L436V;ENSP00000363809:L436V	ENSP00000363807:L436V	L	+	1	2	SLC39A7	33279464	0.987000	0.35691	0.992000	0.48379	0.794000	0.44872	0.156000	0.16382	-0.211000	0.10124	-0.398000	0.06409	TTG	-	HMMPfam_Zip		0.562	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	protein_coding	OTTHUMT00000076499.2	T	NM_006979		33279464	+1	no_errors	NM_001077516	genbank	human	validated	54_36p	missense	SNP	0.997	G
LDLRAD3	143458	genome.wustl.edu	37	11	35989200	35989200	+	Intron	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:35989200G>A	ENST00000315571.5	+	1	67				LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3						receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GAGTCACTTTGCATCTTGTGA	0.428																																																0			11																																								35945776	SO:0001627	intron_variant	0			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.46+23506G>A	11.37:g.35989200G>A			35945776	B7Z1U3|B9EG81|Q8NBJ0	RNA	SNP	-	NULL	ENST00000315571.5	37	NULL	CCDS31462.1	11																																																																																			-	-		0.428	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128841	protein_coding	OTTHUMT00000389085.1	G	NM_174902		35945776	-1	pseudogene	XR_039189	genbank	human	model	54_36p	rna	SNP	0.002	A
TSHZ3	57616	genome.wustl.edu	37	19	31770200	31770200	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:31770200A>C	ENST00000240587.4	-	2	826	c.499T>G	c.(499-501)Tgg>Ggg	p.W167G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	167					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCTGGTGCCAGTCGAAGCTC	0.642																																																0			19											40.0	41.0	41.0					19																	31770200		2203	4299	6502	36462040	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.499T>G	19.37:g.31770200A>C	ENSP00000240587:p.Trp167Gly		36462040	Q9H0G6|Q9P254	Missense_Mutation	SNP	PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox	p.W167G	ENST00000240587.4	37	c.499	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379342	0.61845	.	.	ENSG00000121297	ENST00000240587	T	0.22336	1.96	5.44	5.44	0.79542	.	0.000000	0.64402	U	0.000001	T	0.44498	0.1296	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.40590	-0.9555	10	0.87932	D	0	-7.8188	15.5045	0.75728	1.0:0.0:0.0:0.0	.	167	Q63HK5	TSH3_HUMAN	G	167	ENSP00000240587:W167G	ENSP00000240587:W167G	W	-	1	0	TSHZ3	36462040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.938000	0.92943	2.057000	0.61298	0.533000	0.62120	TGG	-	NULL		0.642	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	A	NM_020856		36462040	-1	no_errors	NM_020856	genbank	human	validated	54_36p	missense	SNP	1.000	C
KRT17	3872	genome.wustl.edu	37	17	39777278	39777278	+	Silent	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:39777278G>A	ENST00000311208.8	-	5	967	c.900C>T	c.(898-900)atC>atT	p.I300I	JUP_ENST00000540235.1_Silent_p.I459I	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	300	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGCTCCGAGATCTCACTCT	0.617																																					Pancreas(92;1242 2086 39193 50508)											0			17											69.0	59.0	63.0					17																	39777278		2203	4300	6503	37030804	SO:0001819	synonymous_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.900C>T	17.37:g.39777278G>A			37030804	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.I300	ENST00000311208.8	37	c.900	CCDS11402.1	17																																																																																			-	HMMPfam_Filament,superfamily_Prefoldin		0.617	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT17	protein_coding	OTTHUMT00000257460.1	G	NM_000422		37030804	-1	no_errors	NM_000422	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CYBB	1536	genome.wustl.edu	37	X	37663164	37663164	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:37663164A>G	ENST00000378588.4	+	9	999	c.932A>G	c.(931-933)cAg>cGg	p.Q311R	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.Q44R|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.Q279R	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	311	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ATCGAGCTACAGATGAAGAAG	0.408																																																0			X											80.0	72.0	75.0					X																	37663164		2202	4300	6502	37548108	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.932A>G	X.37:g.37663164A>G	ENSP00000367851:p.Gln311Arg		37548108	A8K138|Q2PP16	Missense_Mutation	SNP	HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6	p.Q311R	ENST00000378588.4	37	c.932	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539353	0.65085	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.93488	-3.23;-3.23;-3.23	5.74	5.74	0.90152	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.050219	0.85682	D	0.000000	D	0.91981	0.7460	L	0.49256	1.55	0.80722	D	1	B;B	0.29481	0.245;0.148	B;B	0.36335	0.222;0.133	D	0.89940	0.4072	10	0.37606	T	0.19	.	15.043	0.71805	1.0:0.0:0.0:0.0	.	279;311	F5GWD2;P04839	.;CY24B_HUMAN	R	311;279;44	ENSP00000367851:Q311R;ENSP00000441896:Q279R;ENSP00000441958:Q44R	ENSP00000367851:Q311R	Q	+	2	0	CYBB	37548108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.935000	0.56089	0.441000	0.28932	CAG	-	superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	protein_coding	OTTHUMT00000080881.1	A			37548108	+1	no_errors	NM_000397	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RAB11FIP1	80223	genome.wustl.edu	37	8	37720446	37720446	+	Silent	SNP	C	C	T	rs142729002	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr8:37720446C>T	ENST00000330843.4	-	6	3831	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	RAB11FIP1_ENST00000522727.1_Silent_p.P491P|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Silent_p.P639P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1273	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAACCTGAGTCGGGATGCGGA	0.493																																																0			8						C	,	0,4406		0,0,2203	159.0	149.0	153.0		3819,1917	-12.3	0.0	8	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1273/1284,639/650	37720446	2,13004	2203	4300	6503	37839604	SO:0001819	synonymous_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3819G>A	8.37:g.37720446C>T			37839604	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP	p.P1273	ENST00000330843.4	37	c.3819	CCDS34882.1	8																																																																																			-	HMMPfam_RBD-FIP		0.493	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37839604	-1	no_errors	NM_001002814	genbank	human	validated	54_36p	silent	SNP	0.000	T
SCN5A	6331	genome.wustl.edu	37	3	38674641	38674641	+	Missense_Mutation	SNP	C	C	T	rs199473049		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr3:38674641C>T	ENST00000333535.4	-	2	307	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	SCN5A_ENST00000414099.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R53Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R53Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R53Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	53					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTGGGGCCGGGGAGCCTC	0.652																																																0			3											25.0	29.0	28.0					3																	38674641		1899	4108	6007	38649645	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.158G>A	3.37:g.38674641C>T	ENSP00000328968:p.Arg53Gln		38649645	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ	p.R53Q	ENST00000333535.4	37	c.158	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355696	0.41700	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.55	1.78	0.24846	.	0.316385	0.34178	N	0.004182	T	0.62998	0.2474	N	0.13371	0.34	0.30027	N	0.813837	B;B;B;B;B;B	0.14805	0.001;0.0;0.001;0.0;0.011;0.001	B;B;B;B;B;B	0.13407	0.001;0.0;0.001;0.001;0.009;0.002	T	0.56878	-0.7906	10	0.51188	T	0.08	.	8.3303	0.32182	0.0:0.6058:0.0:0.3942	.	53;53;53;53;53;53	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	53	ENSP00000398962:R53Q;ENSP00000398266:R53Q;ENSP00000410257:R53Q;ENSP00000388797:R53Q;ENSP00000397915:R53Q;ENSP00000416634:R53Q;ENSP00000328968:R53Q;ENSP00000399524:R53Q;ENSP00000403355:R53Q;ENSP00000413996:R53Q;ENSP00000333674:R53Q	ENSP00000333674:R53Q	R	-	2	0	SCN5A	38649645	0.011000	0.17503	1.000000	0.80357	0.973000	0.67179	-0.876000	0.04201	0.176000	0.19873	-0.320000	0.08662	CGG	-	NULL		0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38649645	-1	no_errors	NM_001099404	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PLCD3	113026	genome.wustl.edu	37	17	43194020	43194020	+	Silent	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:43194020G>C	ENST00000322765.5	-	8	1505	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCAGCTCCTCGGGATTTGGGG	0.687																																																0			17											38.0	44.0	42.0					17																	43194020		2075	4198	6273	40549546	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1392C>G	17.37:g.43194020G>C			40549546	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	superfamily_PH domain-like,HMMSmart_SM00233,superfamily_EF-hand,PatternScan_EF_HAND_1,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.P464	ENST00000322765.5	37	c.1392		17																																																																																			-	HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases		0.687	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	protein_coding		G	NM_133373		40549546	-1	no_errors	ENST00000322765	ensembl	human	known	54_36p	silent	SNP	0.000	C
PWP2	5822	genome.wustl.edu	37	21	45548140	45548140	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr21:45548140C>T	ENST00000291576.7	+	19	2499	c.2372C>T	c.(2371-2373)aCc>aTc	p.T791I	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	791					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAAGTGGTCACCTCCTCCCTT	0.517																																																0			21											138.0	138.0	138.0					21																	45548140		2203	4300	6503	44372568	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2372C>T	21.37:g.45548140C>T	ENSP00000291576:p.Thr791Ile		44372568	B2RAG8|Q96A77	Missense_Mutation	SNP	superfamily_Peptidase_S9A_N,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_PWP2	p.T791I	ENST00000291576.7	37	c.2372	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	C	8.825	0.938604	0.18206	.	.	ENSG00000241945	ENST00000291576	T	0.57107	0.42	4.2	3.3	0.37823	.	0.189887	0.56097	D	0.000022	T	0.34658	0.0905	N	0.12746	0.255	0.28054	N	0.933239	B	0.12630	0.006	B	0.08055	0.003	T	0.28933	-1.0028	10	0.46703	T	0.11	-8.2781	14.0369	0.64651	0.0:0.2932:0.7068:0.0	.	791	Q15269	PWP2_HUMAN	I	791	ENSP00000291576:T791I	ENSP00000291576:T791I	T	+	2	0	PWP2	44372568	1.000000	0.71417	0.621000	0.29145	0.564000	0.35744	2.775000	0.47702	1.049000	0.40321	-0.256000	0.11100	ACC	-	HMMPfam_PWP2		0.517	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	protein_coding	OTTHUMT00000195736.3	C	NM_005049		44372568	+1	no_errors	NM_005049	genbank	human	validated	54_36p	missense	SNP	0.995	T
KRTAP10-10	353333	genome.wustl.edu	37	21	46057582	46057582	+	Missense_Mutation	SNP	A	A	C	rs76743925	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr21:46057582A>C	ENST00000380095.1	+	1	310	c.248A>C	c.(247-249)gAt>gCt	p.D83A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	83	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCCAGCCGGATTGCTGCACC	0.647													a|||	99	0.0197684	0.0726	0.0029	5008	,	,		21064	0.0		0.001	False		,,,				2504	0.0															0			21						A	,ALA/ASP	210,4196	807.2+/-415.9	11,188,2004	117.0	112.0	114.0		,248	0.2	0.0	21	dbSNP_131	114	3,8597	819.0+/-406.8	0,3,4297	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,126	11,191,6301	CC,CA,AA		0.0349,4.7662,1.6377	,benign	,83/252	46057582	213,12793	2203	4300	6503	44882010	SO:0001583	missense	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.248A>C	21.37:g.46057582A>C	ENSP00000369438:p.Asp83Ala		44882010		Missense_Mutation	SNP	HMMPfam_Keratin_B2	p.D83A	ENST00000380095.1	37	c.248	CCDS33585.1	21	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	c	0.001	-3.144807	0.00029	0.047662	3.49E-4	ENSG00000221859	ENST00000380095	T	0.01272	5.07	3.33	0.252	0.15545	.	.	.	.	.	T	0.00073	0.0002	N	0.00024	-2.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.10902	T	0.67	.	3.766	0.08623	0.1701:0.5684:0.1578:0.1037	.	83	P60014	KR10A_HUMAN	A	83	ENSP00000369438:D83A	ENSP00000369438:D83A	D	+	2	0	KRTAP10-10	44882010	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.238000	0.08977	-0.243000	0.09653	-1.509000	0.00949	GAT	-	HMMPfam_Keratin_B2		0.647	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-10	protein_coding	OTTHUMT00000128034.1	A	NM_181688		44882010	+1	no_errors	NM_181688	genbank	human	provisional	54_36p	missense	SNP	0.020	C
FCGBP	8857	genome.wustl.edu	37	19	40368543	40368543	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:40368543C>T	ENST00000221347.6	-	28	12812	c.12805G>A	c.(12805-12807)Gac>Aac	p.D4269N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4269	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCAACCGGTCCTCAGGGCAC	0.667																																																0			19											26.0	29.0	28.0					19																	40368543		2193	4263	6456	45060383	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12805G>A	19.37:g.40368543C>T	ENSP00000221347:p.Asp4269Asn		45060383	O95784	Missense_Mutation	SNP	HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC	p.D4269N	ENST00000221347.6	37	c.12805	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	9.585	1.124611	0.20959	.	.	ENSG00000090920	ENST00000221347	T	0.18810	2.19	4.6	2.44	0.29823	von Willebrand factor, type D domain (1);	0.225514	0.36338	U	0.002641	T	0.10594	0.0259	L	0.45285	1.41	0.09310	N	1	B	0.30824	0.296	B	0.22753	0.041	T	0.26395	-1.0104	10	0.02654	T	1	.	3.8661	0.09016	0.0:0.5286:0.1843:0.2871	.	4269	Q9Y6R7	FCGBP_HUMAN	N	4269	ENSP00000221347:D4269N	ENSP00000221347:D4269N	D	-	1	0	FCGBP	45060383	0.000000	0.05858	0.710000	0.30468	0.012000	0.07955	-0.493000	0.06459	1.067000	0.40740	0.305000	0.20034	GAC	-	NULL		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45060383	-1	no_errors	NM_003890	genbank	human	validated	54_36p	missense	SNP	0.001	T
AKR1A1	10327	genome.wustl.edu	37	1	46035615	46035615	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:46035615A>G	ENST00000372070.3	+	10	1712	c.965A>G	c.(964-966)aAt>aGt	p.N322S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.N322S|AKR1A1_ENST00000473038.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	322					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TACCCCTTTAATGACCCGTAC	0.517											OREG0013453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											123.0	105.0	111.0					1																	46035615		2203	4300	6503	45808202	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.965A>G	1.37:g.46035615A>G	ENSP00000361140:p.Asn322Ser	936	45808202	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3	p.N322S	ENST00000372070.3	37	c.965	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.352492	0.41700	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.31510	1.49;1.49	6.02	4.88	0.63580	NADP-dependent oxidoreductase domain (1);	0.040721	0.85682	D	0.000000	T	0.17238	0.0414	N	0.19112	0.55	0.58432	D	0.999999	B	0.15141	0.012	B	0.10450	0.005	T	0.06588	-1.0818	10	0.02654	T	1	.	12.1691	0.54148	0.9324:0.0:0.0675:0.0	.	322	P14550	AK1A1_HUMAN	S	322	ENSP00000361140:N322S;ENSP00000312606:N322S	ENSP00000312606:N322S	N	+	2	0	AKR1A1	45808202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.864000	0.62990	1.087000	0.41251	0.524000	0.50904	AAT	-	superfamily_NAD(P)-linked oxidoreductase		0.517	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	protein_coding	OTTHUMT00000020851.1	A	NM_006066		45808202	+1	no_errors	NM_006066	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
FNDC3A	22862	genome.wustl.edu	37	13	49786413	49786413	+	IGR	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr13:49786413G>A	ENST00000492622.2	+	0	6286					NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A						fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGGCTCCACTGGCCGTTTCAT	0.507																																																0			13																																								48684414	SO:0001628	intergenic_variant	387924			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911		13.37:g.49786413G>A			48684414	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	RNA	SNP	-	NULL	ENST00000492622.2	37	NULL	CCDS41886.1	13																																																																																			-	-		0.507	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC387924	protein_coding	OTTHUMT00000354845.2	G	NM_014923		48684414	-1	pseudogene	XR_017443	genbank	human	model	54_36p	rna	SNP	0.015	A
KRT4	3851	genome.wustl.edu	37	12	53202599	53202599	+	Silent	SNP	C	C	T	rs189596654	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr12:53202599C>T	ENST00000551956.1	-	5	1362	c.870G>A	c.(868-870)acG>acA	p.T290T	KRT4_ENST00000293774.4_Silent_p.T364T|KRT4_ENST00000458244.2_Silent_p.T270T			P19013	K2C4_HUMAN	keratin 4	304	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGACCACGGACGTGTCGCTGA	0.577													C|||	5	0.000998403	0.0008	0.0	5008	,	,		20100	0.0		0.003	False		,,,				2504	0.001				Pancreas(190;284 2995 41444 45903)											0			12						C		3,4403	6.2+/-15.9	0,3,2200	95.0	87.0	90.0		870	-11.5	0.0	12		90	34,8566	23.4+/-69.3	0,34,4266	no	coding-synonymous	KRT4	NM_002272.3		0,37,6466	TT,TC,CC		0.3953,0.0681,0.2845		290/521	53202599	37,12969	2203	4300	6503	51488866	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.870G>A	12.37:g.53202599C>T			51488866	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.T364	ENST00000551956.1	37	c.1092	CCDS41787.2	12																																																																																			-	HMMPfam_Filament,superfamily_Prefoldin		0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	protein_coding	OTTHUMT00000405931.1	C	NM_002272		51488866	-1	no_errors	NM_002272	genbank	human	reviewed	54_36p	silent	SNP	0.091	T
TANC2	26115	genome.wustl.edu	37	17	61482569	61482569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:61482569C>T	ENST00000424789.2	+	18	3200	c.3196C>T	c.(3196-3198)Cga>Tga	p.R1066*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R1066*|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1066					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCAAACCGCCGAGGAGCAGT	0.617																																																0			17											19.0	21.0	20.0					17																	61482569		2011	4162	6173	58836301	SO:0001587	stop_gained	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3196C>T	17.37:g.61482569C>T	ENSP00000387593:p.Arg1066*		58836301	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1	p.R1066*	ENST00000424789.2	37	c.3196	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.973780	0.99021	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.33	4.33	0.51752	.	0.067807	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8451	0.70254	0.1493:0.8507:0.0:0.0	.	.	.	.	X	1066	.	ENSP00000374171:R1066X	R	+	1	2	TANC2	58836301	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.527000	0.45615	1.190000	0.43042	0.655000	0.94253	CGA	-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.617	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	protein_coding	OTTHUMT00000444765.1	C			58836301	+1	no_errors	NM_025185	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
NLRP4	147945	genome.wustl.edu	37	19	56370525	56370525	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:56370525C>A	ENST00000301295.6	+	3	2188	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.S514Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.S589Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	589					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGGTGGTTTCTGCCTACTGC	0.428																																																0			19											80.0	72.0	75.0					19																	56370525		2203	4300	6503	61062337	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1766C>A	19.37:g.56370525C>A	ENSP00000301295:p.Ser589Tyr		61062337	Q86W87|Q96AY6	Missense_Mutation	SNP	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368	p.S589Y	ENST00000301295.6	37	c.1766	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582311	0.46006	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.89617	-2.54;-2.54	3.47	-1.16	0.09678	.	.	.	.	.	D	0.90580	0.7047	M	0.71036	2.16	0.09310	N	1	P;D;D	0.71674	0.937;0.998;0.997	P;D;P	0.65443	0.535;0.935;0.85	T	0.79685	-0.1700	9	0.37606	T	0.19	.	3.5854	0.07969	0.0:0.4718:0.1948:0.3334	.	589;514;589	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Y	589	ENSP00000301295:S589Y;ENSP00000344787:S589Y	ENSP00000301295:S589Y	S	+	2	0	NLRP4	61062337	0.001000	0.12720	0.000000	0.03702	0.211000	0.24417	1.070000	0.30653	-0.113000	0.11958	-0.282000	0.10007	TCT	-	superfamily_RNI-like		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	C	NM_134444		61062337	+1	no_errors	NM_134444	genbank	human	validated	54_36p	missense	SNP	0.273	A
ZNF547	284306	genome.wustl.edu	37	19	57889778	57889778	+	3'UTR	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:57889778G>C	ENST00000282282.3	+	0	1584				AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGACATTGGAGAGTTTACA	0.378																																																0			19											11.0	11.0	11.0					19																	57889778		872	1986	2858	62581590	SO:0001624	3_prime_UTR_variant	284306			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.*225G>C	19.37:g.57889778G>C			62581590	A8K5Z9|Q96NC4	Splice_Site	SNP	-	e4-1	ENST00000282282.3	37	c.1033-1	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	g	3.587	-0.084390	0.07097	.	.	ENSG00000152433	ENST00000391704	.	.	.	1.98	-0.318	0.12728	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8261	0.01121	0.1597:0.2368:0.3633:0.2402	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF547	62581590	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.619000	0.24388	-0.014000	0.14175	0.491000	0.48974	.	-	-		0.378	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	protein_coding	OTTHUMT00000465787.1	G	NM_173631		62581590	+1	no_errors	ENST00000391704	ensembl	human	known	54_36p	splice_site	SNP	0.012	C
CDH11	1009	genome.wustl.edu	37	16	65005848	65005848	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr16:65005848G>A	ENST00000268603.4	-	10	2125	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	CDH11_ENST00000566827.1_Missense_Mutation_p.P378S|CDH11_ENST00000394156.3_Missense_Mutation_p.P504S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGAAAGTGGCTTGGTCTGA	0.448			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0			16											88.0	72.0	77.0					16																	65005848		2203	4300	6503	63563349	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1510C>T	16.37:g.65005848G>A	ENSP00000268603:p.Pro504Ser		63563349	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.P504S	ENST00000268603.4	37	c.1510	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122242	0.37436	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.58506	2.24;0.33	5.91	3.92	0.45320	Cadherin (1);Cadherin-like (1);	0.102112	0.44097	D	0.000498	T	0.51975	0.1706	N	0.22421	0.69	0.31089	N	0.711084	B;P	0.46784	0.013;0.884	B;P	0.48952	0.037;0.596	T	0.56920	-0.7899	10	0.36615	T	0.2	.	14.916	0.70798	0.0:0.271:0.729:0.0	.	504;504	P55287-2;P55287	.;CAD11_HUMAN	S	504;504;487	ENSP00000268603:P504S;ENSP00000377711:P504S	ENSP00000268603:P504S	P	-	1	0	CDH11	63563349	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.340000	0.52143	0.813000	0.34350	-0.176000	0.13171	CCA	-	superfamily_Cadherin-like,HMMPfam_Cadherin		0.448	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	protein_coding	OTTHUMT00000268755.1	G	NM_033664		63563349	-1	no_errors	NM_001797	genbank	human	reviewed	54_36p	missense	SNP	0.992	A
ZNF138	7697	genome.wustl.edu	37	7	64292443	64292443	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr7:64292443G>C	ENST00000359735.3	+	4	999	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.E218Q|ZNF138_ENST00000437743.1_Missense_Mutation_p.E243Q|ZNF138_ENST00000440155.2_Missense_Mutation_p.E249Q|ZNF138_ENST00000307355.7_Missense_Mutation_p.E275Q|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AATTCATACTGAAGAGAAACC	0.378																																																0			7											45.0	48.0	47.0					7																	64292443		2203	4300	6503	63929878	SO:0001583	missense	7697			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.652G>C	7.37:g.64292443G>C	ENSP00000352770:p.Glu218Gln		63929878	B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.E218Q	ENST00000359735.3	37	c.652		7	.	.	.	.	.	.	.	.	.	.	.	11.61	1.690324	0.29962	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43010	0.1228	L	0.37750	1.13	0.23266	N	0.998011	B;B;B	0.29671	0.166;0.166;0.254	B;B;B	0.35182	0.102;0.197;0.197	T	0.44143	-0.9347	9	0.87932	D	0	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	249;243;218	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	Q	275;218;249;243;218	ENSP00000303533:E275Q;ENSP00000352770:E218Q;ENSP00000407262:E249Q;ENSP00000399528:E243Q;ENSP00000380325:E218Q	ENSP00000303533:E275Q	E	+	1	0	ZNF138	63929878	0.500000	0.26091	0.008000	0.14137	0.008000	0.06430	3.738000	0.55067	0.192000	0.20272	0.195000	0.17529	GAA	-	superfamily_SSF57667		0.378	ZNF138-201	KNOWN	basic	protein_coding	ZNF138	protein_coding		G	NM_006524		63929878	+1	no_errors	NM_006524	genbank	human	provisional	54_36p	missense	SNP	1.000	C
SPTB	6710	genome.wustl.edu	37	14	65260264	65260264	+	Missense_Mutation	SNP	C	C	T	rs201889680		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr14:65260264C>T	ENST00000389721.5	-	13	2149	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	SPTB_ENST00000389720.3_Missense_Mutation_p.R706H|SPTB_ENST00000389722.3_Missense_Mutation_p.R706H|SPTB_ENST00000556626.1_Missense_Mutation_p.R706H|SPTB_ENST00000542895.1_Missense_Mutation_p.R706H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	706					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AAACTGCTTGCGCGCAACCAT	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0															0			14											63.0	55.0	58.0					14																	65260264		2203	4300	6503	64330017	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2117G>A	14.37:g.65260264C>T	ENSP00000374371:p.Arg706His		64330017	Q15510|Q15519	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.R706H	ENST00000389721.5	37	c.2117	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030773	0.35797	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.69	1.75	0.24633	.	0.550007	0.19540	N	0.111829	T	0.42539	0.1207	L	0.43923	1.385	0.09310	N	1	P;P	0.38992	0.653;0.643	P;P	0.44477	0.451;0.451	T	0.31943	-0.9925	10	0.72032	D	0.01	.	7.2051	0.25903	0.0:0.5337:0.0:0.4663	.	706;710	P11277;Q59FP5	SPTB1_HUMAN;.	H	710;706;706;706;706;706	ENSP00000374372:R706H;ENSP00000451752:R706H;ENSP00000374371:R706H;ENSP00000443882:R706H;ENSP00000374370:R706H	ENSP00000374370:R706H	R	-	2	0	SPTB	64330017	0.000000	0.05858	0.626000	0.29213	0.621000	0.37620	-1.118000	0.03280	0.494000	0.27859	0.561000	0.74099	CGC	-	HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	C			64330017	-1	no_errors	NM_001024858	genbank	human	validated	54_36p	missense	SNP	0.003	T
Unknown	0	genome.wustl.edu	37	9	68455275	68455275	+	IGR	SNP	A	A	G	rs372464763		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr9:68455275A>G								MIR4477B (39887 upstream) : CR786580.2 (57070 downstream)																							GACCTGGAGCAGCACCAGGGC	0.547																																																0			9																																								67945095	SO:0001628	intergenic_variant	642236																															9.37:g.68455275A>G			67945095		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.547					LOC642236			A			67945095	-1	no_errors	XR_041085	genbank	human	model	54_36p	rna	SNP	0.001	G
TRPM3	80036	genome.wustl.edu	37	9	73736156	73736156	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr9:73736156G>T	ENST00000377111.2	-	1	358	c.115C>A	c.(115-117)Cta>Ata	p.L39I	TRPM3_ENST00000377110.3_Missense_Mutation_p.L39I|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	39					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCCAGTTTAGGGGTCGAGGA	0.488																																																0			9											92.0	94.0	94.0					9																	73736156		1947	4146	6093	72925976	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.115C>A	9.37:g.73736156G>T	ENSP00000366315:p.Leu39Ile		72925976	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	HMMPfam_Ion_trans	p.L39I	ENST00000377111.2	37	c.115		9	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695866	0.48202	.	.	ENSG00000083067	ENST00000377111;ENST00000377110	T;T	0.59364	0.27;0.45	5.54	5.54	0.83059	.	.	.	.	.	T	0.58736	0.2143	N	0.08118	0	0.80722	D	1	P;D;D	0.56035	0.458;0.974;0.974	B;D;D	0.67725	0.364;0.953;0.953	T	0.65348	-0.6190	9	0.46703	T	0.11	.	18.063	0.89383	0.0:0.0:1.0:0.0	.	39;39;39	Q9HCF6;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.	I	39	ENSP00000366315:L39I;ENSP00000366314:L39I	ENSP00000366314:L39I	L	-	1	2	TRPM3	72925976	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.104000	0.71498	2.619000	0.88677	0.455000	0.32223	CTA	-	NULL		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	G	NM_206945		72925976	-1	no_errors	NM_001007471	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
USP54	159195	genome.wustl.edu	37	10	75276724	75276724	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr10:75276724T>C	ENST00000339859.4	-	19	3560	c.3460A>G	c.(3460-3462)Agt>Ggt	p.S1154G	USP54_ENST00000394811.2_Missense_Mutation_p.S242G|USP54_ENST00000422491.2_Missense_Mutation_p.S336G|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.S1004G|USP54_ENST00000408019.1_Missense_Mutation_p.S1154G			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1154					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTGACAAACTTCTATCCTTG	0.502																																					Colon(195;880 2046 8854 25025 38456)											0			10											118.0	117.0	117.0					10																	75276724		2203	4300	6503	74946730	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3460A>G	10.37:g.75276724T>C	ENSP00000345216:p.Ser1154Gly		74946730	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH	p.S1154G	ENST00000339859.4	37	c.3460	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	T	7.455	0.643429	0.14451	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.26067	1.83;1.83;1.82;1.76;1.77	5.64	4.48	0.54585	.	.	.	.	.	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	P;B	0.41848	0.763;0.104	B;B	0.37144	0.242;0.024	T	0.01956	-1.1240	9	0.62326	D	0.03	-0.2807	11.4793	0.50316	0.0:0.0:0.2847:0.7153	.	336;1154	E7EW90;Q70EL1	.;UBP54_HUMAN	G	1154;1154;1004;242;336	ENSP00000345216:S1154G;ENSP00000386080:S1154G;ENSP00000408714:S1004G;ENSP00000378290:S242G;ENSP00000407368:S336G	ENSP00000345216:S1154G	S	-	1	0	USP54	74946730	0.984000	0.35163	0.993000	0.49108	0.035000	0.12851	1.168000	0.31859	0.935000	0.37341	0.533000	0.62120	AGT	-	NULL		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	protein_coding	OTTHUMT00000316563.2	T	NM_152586		74946730	-1	no_errors	NM_152586	genbank	human	provisional	54_36p	missense	SNP	0.090	C
HOMER1	9456	genome.wustl.edu	37	5	78752821	78752821	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:78752821G>A	ENST00000334082.6	-	2	1468	c.26C>T	c.(25-27)aCt>aTt	p.T9I	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.T9I|HOMER1_ENST00000508576.1_Missense_Mutation_p.T9I	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	9	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATGAGCTCGAGTGCTGAAGAT	0.433																																																0			5											226.0	211.0	216.0					5																	78752821		1904	4123	6027	78788577	SO:0001583	missense	9456			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.26C>T	5.37:g.78752821G>A	ENSP00000334382:p.Thr9Ile		78788577	B2R688|O96003|Q86YM5	Missense_Mutation	SNP	HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like	p.T9I	ENST00000334082.6	37	c.26	CCDS43335.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152030	0.78001	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98901	-5.22;-5.22;-5.22	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.80616	2.505	0.80722	D	1	P;P;D	0.65815	0.933;0.836;0.995	P;P;D	0.69307	0.789;0.605;0.963	D	0.99793	1.1032	10	0.87932	D	0	-5.0564	20.3368	0.98748	0.0:0.0:1.0:0.0	.	9;9;9	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	I	9	ENSP00000334382:T9I;ENSP00000426651:T9I;ENSP00000282260:T9I	ENSP00000282260:T9I	T	-	2	0	HOMER1	78788577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	ACT	-	HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like		0.433	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	protein_coding	OTTHUMT00000258856.1	G	NM_004272		78788577	-1	no_errors	NM_004272	genbank	human	validated	54_36p	missense	SNP	1.000	A
LRRC8C	84230	genome.wustl.edu	37	1	90180460	90180460	+	Silent	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:90180460G>C	ENST00000370454.4	+	3	2586	c.2331G>C	c.(2329-2331)ctG>ctC	p.L777L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	777					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GTCGGGCTCTGAAGCGAGCTG	0.398																																																0			1											78.0	82.0	80.0					1																	90180460		2203	4300	6503	89953048	SO:0001819	synonymous_variant	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2331G>C	1.37:g.90180460G>C			89953048	B3KXS9|Q29RV6|Q9H075	Silent	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1	p.L777	ENST00000370454.4	37	c.2331	CCDS725.1	1																																																																																			-	superfamily_L domain-like		0.398	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	protein_coding	OTTHUMT00000028435.2	G	NM_032270		89953048	+1	no_errors	NM_032270	genbank	human	validated	54_36p	silent	SNP	1.000	C
MDN1	23195	genome.wustl.edu	37	6	90513105	90513105	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:90513105G>A	ENST00000369393.3	-	2	386	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	MDN1_ENST00000428876.1_Missense_Mutation_p.H91Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	91					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCGTTCATGCAGATCATGG	0.473																																																0			6											276.0	241.0	253.0					6																	90513105		2203	4300	6503	90569826	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.271C>T	6.37:g.90513105G>A	ENSP00000358400:p.His91Tyr		90569826	O15019|Q5T794	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327	p.H91Y	ENST00000369393.3	37	c.271	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287122	0.59867	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.29142	1.58;1.58;1.58	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.777	T	0.27262	-1.0079	10	0.15066	T	0.55	.	18.1575	0.89696	0.0:0.0:1.0:0.0	.	91;91	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	Y	91	ENSP00000358400:H91Y;ENSP00000413970:H91Y;ENSP00000409664:H91Y	ENSP00000358400:H91Y	H	-	1	0	MDN1	90569826	1.000000	0.71417	0.974000	0.42286	0.922000	0.55478	9.226000	0.95229	2.367000	0.80283	0.305000	0.20034	CAT	-	NULL		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	G			90569826	-1	no_errors	NM_014611	genbank	human	provisional	54_36p	missense	SNP	1.000	A
UNC5C	8633	genome.wustl.edu	37	4	96163622	96163622	+	Missense_Mutation	SNP	C	C	T	rs371874775		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr4:96163622C>T	ENST00000453304.1	-	7	1414	c.1066G>A	c.(1066-1068)Gtc>Atc	p.V356I	UNC5C_ENST00000506749.1_Missense_Mutation_p.V356I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	356	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GATTGCAAGACGAGGCCGTCG	0.547																																																0			4						C	ILE/VAL	0,4406		0,0,2203	61.0	52.0	55.0		1066	5.1	1.0	4		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5C	NM_003728.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	356/932	96163622	1,13005	2203	4300	6503	96382645	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1066G>A	4.37:g.96163622C>T	ENSP00000406022:p.Val356Ile		96382645	Q8IUT0	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death	p.V356I	ENST00000453304.1	37	c.1066	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055527	0.75960	0.0	1.16E-4	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.60672	0.17;0.17;0.17	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	L	0.49126	1.545	0.80722	D	1	P;D;D	0.71674	0.848;0.998;0.996	B;P;P	0.59761	0.34;0.863;0.824	T	0.64597	-0.6370	10	0.35671	T	0.21	.	19.0716	0.93140	0.0:1.0:0.0:0.0	.	356;356;356	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	I	356;315;356;356	ENSP00000406022:V356I;ENSP00000426924:V356I;ENSP00000426153:V356I	ENSP00000328673:V315I	V	-	1	0	UNC5C	96382645	0.991000	0.36638	0.998000	0.56505	0.996000	0.88848	3.755000	0.55197	2.805000	0.96524	0.655000	0.94253	GTC	-	superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209		0.547	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	protein_coding	OTTHUMT00000253607.1	C	NM_003728		96382645	-1	no_errors	NM_003728	genbank	human	reviewed	54_36p	missense	SNP	0.590	T
GLRA4	441509	genome.wustl.edu	37	X	102979145	102979145	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:102979145G>A	ENST00000372617.4	-	4	775	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	119						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGGATCGAGGTCCAGAGAG	0.527																																																0			X											132.0	131.0	131.0					X																	102979145		2145	4274	6419	102865801	SO:0001583	missense	0			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.355C>T	X.37:g.102979145G>A	ENSP00000361700:p.Leu119Phe		102865801		Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.L78F	ENST00000372617.4	37	c.232	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461265	0.63513	.	.	ENSG00000188828	ENST00000372617	D	0.81579	-1.51	5.17	3.37	0.38596	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	T	0.81936	0.4928	L	0.57536	1.79	0.46542	D	0.999096	P;P	0.52170	0.951;0.489	P;P	0.53954	0.738;0.513	T	0.80264	-0.1455	10	0.45353	T	0.12	.	9.3496	0.38129	0.1875:0.0:0.8125:0.0	.	119;78	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	F	119	ENSP00000361700:L119F	ENSP00000361700:L119F	L	-	1	0	GLRA4	102865801	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.739000	0.68622	0.951000	0.37770	0.513000	0.50165	CTC	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.527	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	protein_coding	OTTHUMT00000057742.2	G	NM_001024452		102865801	-1	no_errors	NM_001024452	genbank	human	validated	54_36p	missense	SNP	1.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105410708	105410708	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr14:105410708C>A	ENST00000333244.5	-	7	11199	c.11080G>T	c.(11080-11082)Gac>Tac	p.D3694Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3694						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTCAGGTCGGCAGAAGGG	0.637																																																0			14											117.0	124.0	122.0					14																	105410708		1912	4108	6020	104481753	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11080G>T	14.37:g.105410708C>A	ENSP00000353114:p.Asp3694Tyr		104481753	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin	p.D3694Y	ENST00000333244.5	37	c.11080	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	12.50	1.957128	0.34565	.	.	ENSG00000185567	ENST00000333244	T	0.01406	4.93	3.62	0.683	0.17998	.	.	.	.	.	T	0.07413	0.0187	M	0.89601	3.045	0.09310	N	1	D	0.71674	0.998	D	0.64144	0.922	T	0.13072	-1.0523	9	0.87932	D	0	.	5.0533	0.14520	0.0:0.6191:0.1728:0.2081	.	3694	Q8IVF2	AHNK2_HUMAN	Y	3694	ENSP00000353114:D3694Y	ENSP00000353114:D3694Y	D	-	1	0	AHNAK2	104481753	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.751000	0.26348	-0.045000	0.13468	-1.185000	0.01705	GAC	-	NULL		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	C	NM_138420		104481753	-1	no_errors	NM_138420	genbank	human	validated	54_36p	missense	SNP	0.020	A
AHCYL1	10768	genome.wustl.edu	37	1	110563436	110563436	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:110563436C>A	ENST00000369799.5	+	16	1916	c.1549C>A	c.(1549-1551)Ctc>Atc	p.L517I	AHCYL1_ENST00000393614.4_Missense_Mutation_p.L470I|AHCYL1_ENST00000359172.3_Missense_Mutation_p.L470I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	517					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ATATCTGGGACTCAACAAAAA	0.438																																																0			1											122.0	125.0	124.0					1																	110563436		2203	4300	6503	110364959	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1549C>A	1.37:g.110563436C>A	ENSP00000358814:p.Leu517Ile		110364959	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase,PatternScan_ADOHCYASE_1,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_AdoHcyase_NAD,PatternScan_ADOHCYASE_2	p.L517I	ENST00000369799.5	37	c.1549	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352343	0.61293	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75938	-0.98;-0.98;-0.98	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	N	0.21508	0.67	0.80722	D	1	B	0.12630	0.006	B	0.29176	0.099	T	0.53486	-0.8432	10	0.38643	T	0.18	-4.3742	19.69	0.95996	0.0:1.0:0.0:0.0	.	517	O43865	SAHH2_HUMAN	I	517;470;470	ENSP00000358814:L517I;ENSP00000352092:L470I;ENSP00000377238:L470I	ENSP00000352092:L470I	L	+	1	0	AHCYL1	110364959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.157000	0.50716	2.648000	0.89879	0.650000	0.86243	CTC	-	superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase		0.438	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	protein_coding	OTTHUMT00000032243.1	C			110364959	+1	no_errors	NM_006621	genbank	human	validated	54_36p	missense	SNP	1.000	A
BUB1	699	genome.wustl.edu	37	2	111415122	111415122	+	Splice_Site	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:111415122C>T	ENST00000302759.6	-	14	1735		c.e14+1		BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000409311.1_Splice_Site	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TATTTTTTTACCCATAATTTT	0.423																																																0			2											58.0	55.0	56.0					2																	111415122		2203	4300	6503	111131595	SO:0001630	splice_region_variant	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1616+1G>A	2.37:g.111415122C>T			111131595	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	-	e14+1	ENST00000302759.6	37	c.1616+1	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492534	0.64074	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5466	0.76108	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111131595	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.713000	0.54882	2.735000	0.93741	0.557000	0.71058	.	-	-		0.423	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	protein_coding	OTTHUMT00000331925.1	C	NM_004336	Intron	111131595	-1	no_errors	NM_004336	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
HTR2C	3358	genome.wustl.edu	37	X	114141223	114141223	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:114141223G>A	ENST00000276198.1	+	6	1350	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	HTR2C_ENST00000371951.1_Missense_Mutation_p.V208M|HTR2C_ENST00000371950.3_Missense_Mutation_p.R176H	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	208					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACGACGTGCGTGCTCAACGA	0.458													G|||	1	0.000264901	0.0	0.0	3775	,	,		15309	0.001		0.0	False		,,,				2504	0.0															0			X											277.0	222.0	240.0					X																	114141223		2203	4300	6503	114047479	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.622G>A	X.37:g.114141223G>A	ENSP00000276198:p.Val208Met		114047479	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V208M	ENST00000276198.1	37	c.622	CCDS14564.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.815265|2.815265	0.50527|0.50527	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.55930|0.38240	0.49|1.15;1.15	4.87|4.87	3.98|3.98	0.46160|0.46160	.|GPCR, rhodopsin-like superfamily (1);	.|0.234109	.|0.35291	.|N	.|0.003301	T|T	0.34454|0.34454	0.0898|0.0898	L|L	0.47190|0.47190	1.495|1.495	0.21861|0.21861	N|N	0.999507|0.999507	B|P	0.10296|0.47350	0.003|0.894	B|P	0.04013|0.45610	0.001|0.487	T|T	0.16158|0.16158	-1.0412|-1.0412	9|10	0.87932|0.36615	D|T	0|0.2	.|.	10.6944|10.6944	0.45890|0.45890	0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0	.|.	176|208	B1AMW4|P28335	.|5HT2C_HUMAN	H|M	176|208	ENSP00000361018:R176H|ENSP00000276198:V208M;ENSP00000361019:V208M	ENSP00000361018:R176H|ENSP00000276198:V208M	R|V	+|+	2|1	0|0	HTR2C|HTR2C	114047479|114047479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.928000|2.928000	0.48908|0.48908	2.135000|2.135000	0.66039|0.66039	0.538000|0.538000	0.68166|0.68166	CGT|GTG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.458	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	protein_coding	OTTHUMT00000057962.1	G	NM_000868		114047479	+1	no_errors	NM_000868	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116406747	116406747	+	Silent	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr12:116406747G>T	ENST00000281928.3	-	28	6429	c.6223C>A	c.(6223-6225)Cgg>Agg	p.R2075R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2075						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCCTTACCCGACTATGCTGG	0.473																																																0			12											85.0	93.0	90.0					12																	116406747		2203	4300	6503	114891130	SO:0001819	synonymous_variant	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6223C>A	12.37:g.116406747G>T			114891130	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	HMMPfam_TRAP_240kDa	p.R2075	ENST00000281928.3	37	c.6223	CCDS9177.1	12																																																																																			-	NULL		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	protein_coding	OTTHUMT00000403879.3	G			114891130	-1	no_errors	NM_015335	genbank	human	validated	54_36p	silent	SNP	1.000	T
TECTA	7007	genome.wustl.edu	37	11	120984336	120984336	+	Silent	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:120984336C>A	ENST00000392793.1	+	6	970	c.699C>A	c.(697-699)atC>atA	p.I233I	TECTA_ENST00000264037.2_Silent_p.I233I			O75443	TECTA_HUMAN	tectorin alpha	233	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCGTGAATATCCAGGAGACCA	0.493																																																0			11											63.0	64.0	63.0					11																	120984336		2203	4299	6502	120489546	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.699C>A	11.37:g.120984336C>A			120489546		Silent	SNP	HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin	p.I233	ENST00000392793.1	37	c.699	CCDS8434.1	11																																																																																			-	HMMSmart_SM00539,HMMPfam_NIDO		0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422		120489546	+1	no_errors	NM_005422	genbank	human	reviewed	54_36p	silent	SNP	0.998	A
SAP130	79595	genome.wustl.edu	37	2	128757376	128757376	+	Silent	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:128757376G>A	ENST00000259235.3	-	10	1359	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	SAP130_ENST00000357702.5_Silent_p.T410T|SAP130_ENST00000259234.6_Silent_p.T384T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	410					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTACTGTCATGGTAACAATGG	0.488																																																0			2											220.0	193.0	203.0					2																	128757376		2203	4300	6503	128473846	SO:0001819	synonymous_variant	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1230C>T	2.37:g.128757376G>A			128473846	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.T410	ENST00000259235.3	37	c.1230	CCDS2153.1	2																																																																																			-	NULL		0.488	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128473846	-1	no_errors	NM_024545	genbank	human	validated	54_36p	silent	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130872529	130872529	+	Nonsense_Mutation	SNP	G	G	C	rs556671650	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:130872529G>C	ENST00000409914.2	-	5	1134	c.735C>G	c.(733-735)taC>taG	p.Y245*	POTEF_ENST00000357462.5_Nonsense_Mutation_p.Y245*|POTEF_ENST00000361163.4_Nonsense_Mutation_p.Y255*|POTEF_ENST00000360967.5_Nonsense_Mutation_p.Y245*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	245					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TATAGATAGCGTAGTGCAGAG	0.383																																																0			2																																								130588999	SO:0001587	stop_gained	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.735C>G	2.37:g.130872529G>C	ENSP00000386786:p.Tyr245*		130588999	A6NC34	Nonsense_Mutation	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2	p.Y245*	ENST00000409914.2	37	c.735	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559016	0.45590	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	.	.	.	1.13	1.13	0.20643	.	0.338132	0.21377	N	0.075523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1821	0.06588	0.7289:0.0:0.2711:0.0	.	.	.	.	X	245;245;245;255	.	ENSP00000350052:Y245X	Y	-	3	2	POTEF	130588999	0.938000	0.31826	0.022000	0.16811	0.038000	0.13279	-0.315000	0.08081	-0.037000	0.13646	-1.353000	0.01230	TAC	-	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank		0.383	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	G	NM_001099771		130588999	-1	no_errors	NM_001099771	genbank	human	validated	54_36p	nonsense	SNP	0.972	C
MCM6	4175	genome.wustl.edu	37	2	136627910	136627910	+	Silent	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:136627910C>G	ENST00000264156.2	-	3	336	c.276G>C	c.(274-276)cgG>cgC	p.R92R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	92					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTTTCAAGGCCCGACACAGGT	0.448																																					Ovarian(196;141 2104 8848 24991 25939)											0			2											158.0	169.0	165.0					2																	136627910		2203	4300	6503	136344380	SO:0001819	synonymous_variant	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.276G>C	2.37:g.136627910C>G			136344380	B2R6H2|Q13504|Q99859	Silent	SNP	superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_MCM_1	p.R92	ENST00000264156.2	37	c.276	CCDS2179.1	2																																																																																			-	superfamily_Nucleic acid-binding proteins		0.448	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	protein_coding	OTTHUMT00000254658.1	C	NM_005915		136344380	-1	no_errors	NM_005915	genbank	human	reviewed	54_36p	silent	SNP	0.851	G
PCDHA4	56144	genome.wustl.edu	37	5	140188137	140188137	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:140188137C>T	ENST00000530339.1	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA4_ENST00000356878.4_Silent_p.F455F|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCGTTCGCGCAGCCCG	0.657																																																0			5											69.0	71.0	70.0					5																	140188137		2203	4300	6503	140168321	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1365C>T	5.37:g.140188137C>T			140168321	O75285|Q2M253	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.F455	ENST00000530339.1	37	c.1365	CCDS54916.1	5																																																																																			-	superfamily_Cadherin-like		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	C	NM_018907		140168321	+1	no_errors	NM_018907	genbank	human	reviewed	54_36p	silent	SNP	0.994	T
PCDHB4	56131	genome.wustl.edu	37	5	140503049	140503049	+	Missense_Mutation	SNP	T	T	C	rs546115877		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:140503049T>C	ENST00000194152.1	+	1	1469	c.1469T>C	c.(1468-1470)cTg>cCg	p.L490P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTCGCTGCTGCCGCCCCAG	0.672													T|||	1	0.000199681	0.0	0.0	5008	,	,		14235	0.001		0.0	False		,,,				2504	0.0															0			5											36.0	42.0	40.0					5																	140503049		2194	4278	6472	140483233	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1469T>C	5.37:g.140503049T>C	ENSP00000194152:p.Leu490Pro		140483233	Q4V761	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.L490P	ENST00000194152.1	37	c.1469	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465634	0.43839	.	.	ENSG00000081818	ENST00000194152	T	0.58358	0.34	4.1	4.1	0.47936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68641	0.3023	M	0.76328	2.33	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.71431	-0.4595	9	0.72032	D	0.01	.	9.0856	0.36579	0.0:0.0903:0.0:0.9097	.	490	Q9Y5E5	PCDB4_HUMAN	P	490	ENSP00000194152:L490P	ENSP00000194152:L490P	L	+	2	0	PCDHB4	140483233	0.016000	0.18221	1.000000	0.80357	0.787000	0.44495	1.594000	0.36697	1.872000	0.54250	0.529000	0.55759	CTG	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.672	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	T	NM_018938		140483233	+1	no_errors	NM_018938	genbank	human	reviewed	54_36p	missense	SNP	0.978	C
NEB	4703	genome.wustl.edu	37	2	152427044	152427044	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:152427044C>A	ENST00000172853.10	-	80	12129	c.11982G>T	c.(11980-11982)caG>caT	p.Q3994H	NEB_ENST00000409198.1_Missense_Mutation_p.Q3994H|NEB_ENST00000603639.1_Missense_Mutation_p.Q5695H|NEB_ENST00000604864.1_Missense_Mutation_p.Q5695H|NEB_ENST00000427231.2_Missense_Mutation_p.Q5695H|NEB_ENST00000397345.3_Missense_Mutation_p.Q5695H			P20929	NEBU_HUMAN	nebulin	3994					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGGCAGCCTGGATGGGGA	0.502																																																0			2											26.0	28.0	27.0					2																	152427044		1929	4173	6102	152135290	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11982G>T	2.37:g.152427044C>A	ENSP00000172853:p.Gln3994His		152135290	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.Q3994H	ENST00000172853.10	37	c.11982		2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522141	0.64747	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	6.17	3.4	0.38934	.	0.353955	0.32473	N	0.006055	T	0.63271	0.2497	M	0.65677	2.01	0.80722	D	1	P;D	0.65815	0.84;0.995	P;D	0.72075	0.811;0.976	T	0.63646	-0.6590	10	0.51188	T	0.08	.	11.3131	0.49375	0.0:0.8008:0.0:0.1992	.	3994;425	P20929;Q14215	NEBU_HUMAN;.	H	3994;5695;5695;43;425;3994	ENSP00000386259:Q3994H;ENSP00000380505:Q5695H;ENSP00000416578:Q5695H;ENSP00000410961:Q425H;ENSP00000172853:Q3994H	ENSP00000172853:Q3994H	Q	-	3	2	NEB	152135290	0.114000	0.22134	1.000000	0.80357	0.992000	0.81027	0.518000	0.22847	0.937000	0.37394	0.655000	0.94253	CAG	-	HMMSmart_SM00227,HMMPfam_Nebulin		0.502	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543		152135290	-1	no_errors	NM_004543	genbank	human	reviewed	54_36p	missense	SNP	0.513	A
WDR60	55112	genome.wustl.edu	37	7	158711561	158711561	+	Splice_Site	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr7:158711561G>T	ENST00000407559.3	+	15	2079		c.e15+1			NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60						cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTCCTTCAAAGTAAGAGGCTG	0.383																																																0			7											53.0	52.0	52.0					7																	158711561		1842	4098	5940	158404322	SO:0001630	splice_region_variant	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1921+1G>T	7.37:g.158711561G>T			158404322	Q9NW58	Splice_Site	SNP	-	e15+1	ENST00000407559.3	37	c.1921+1	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954210	0.34471	.	.	ENSG00000126870	ENST00000407559	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2761	0.82644	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR60	158404322	1.000000	0.71417	0.921000	0.36526	0.131000	0.20780	7.431000	0.80335	2.493000	0.84123	0.462000	0.41574	.	-	-		0.383	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	protein_coding	OTTHUMT00000322668.1	G	NM_018051	Intron	158404322	+1	no_errors	NM_018051	genbank	human	validated	54_36p	splice_site	SNP	0.997	T
MECOM	2122	genome.wustl.edu	37	3	169098995	169098995	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr3:169098995C>A	ENST00000494292.1	-	2	452	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	119					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAACTGGGGTCTTTCAGGTTT	0.403																																																0			3											92.0	89.0	90.0					3																	169098995		1862	4105	5967	170581689	SO:0001583	missense	4197			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.355G>T	3.37:g.169098995C>A	ENSP00000417899:p.Asp119Tyr		170581689	Q13466|Q6FH90	Missense_Mutation	SNP	NULL	p.D119Y	ENST00000494292.1	37	c.355		3	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108241	0.37242	.	.	ENSG00000085276	ENST00000494292	T	0.55413	0.52	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000009	T	0.69495	0.3117	M	0.65975	2.015	0.80722	D	1	D;P	0.67145	0.996;0.815	D;B	0.68943	0.961;0.428	T	0.72481	-0.4280	10	0.87932	D	0	.	14.7634	0.69621	0.0:0.8559:0.1441:0.0	.	119;119	Q13465;Q03112-3	MDS1_HUMAN;.	Y	119	ENSP00000417899:D119Y	ENSP00000417899:D119Y	D	-	1	0	MECOM	170581689	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.609000	0.61148	2.535000	0.85469	0.650000	0.86243	GAC	-	NULL		0.403	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MDS1	protein_coding	OTTHUMT00000351517.3	C	NM_005241, NM_004991		170581689	-1	no_errors	NM_004991	genbank	human	validated	54_36p	missense	SNP	1.000	A
MPP4	58538	genome.wustl.edu	37	2	202539984	202539984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:202539984C>A	ENST00000409474.3	-	11	1147	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	MPP4_ENST00000409143.1_Nonsense_Mutation_p.E287*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.E314*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.E314*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.E301*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.E270*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.E314*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	314					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						CACCAGAATTCCCGTTGCTTC	0.468																																																0			2											54.0	55.0	55.0					2																	202539984		1901	4109	6010	202248229	SO:0001587	stop_gained	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.940G>T	2.37:g.202539984C>A	ENSP00000387278:p.Glu314*		202248229	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C	p.E314*	ENST00000409474.3	37	c.940	CCDS46491.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.183377	0.97357	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	4.65	3.77	0.43336	.	0.295249	0.30602	N	0.009273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.7335	0.57210	0.0:0.9206:0.0:0.0794	.	.	.	.	X	314;301;270;314;243;314;287;314	.	ENSP00000319363:E301X	E	-	1	0	MPP4	202248229	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.510000	0.67018	1.189000	0.43028	0.555000	0.69702	GAA	-	superfamily_SH3-domain		0.468	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPP4	protein_coding	OTTHUMT00000335748.2	C			202248229	-1	no_errors	NM_033066	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
VIL1	7429	genome.wustl.edu	37	2	219293015	219293015	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:219293015C>T	ENST00000248444.5	+	6	610	c.522C>T	c.(520-522)atC>atT	p.I174I	VIL1_ENST00000440053.1_Silent_p.I174I|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	174	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCTTATCATCCAGTGGA	0.567																																																0			2											132.0	122.0	125.0					2																	219293015		2203	4300	6503	219001259	SO:0001819	synonymous_variant	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.522C>T	2.37:g.219293015C>T			219001259	B2R9A7|Q53S11|Q96AC8	Silent	SNP	superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF82754,superfamily_VHP,HMMPfam_VHP,HMMSmart_VHP	p.I174	ENST00000248444.5	37	c.522	CCDS2417.1	2																																																																																			-	superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin		0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	protein_coding	OTTHUMT00000256778.3	C	NM_007127		219001259	+1	no_errors	NM_007127	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
NADK	65220	genome.wustl.edu	37	1	1684347	1684348	+	In_Frame_Ins	INS	-	-	CCT	rs139135464|rs71578334|rs150880809		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:1684347_1684348insCCT	ENST00000341426.5	-	12	1557_1558	c.1336_1337insAGG	c.(1336-1338)ggc>gAGGgc	p.445_446insE	NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE|NADK_ENST00000344463.4_In_Frame_Ins_p.590_591insE|NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	445	Poly-Glu.			E -> EE (in Ref. 2; BAB14412). {ECO:0000305}.|G -> EG (in Ref. 3; BAH12420). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTTGACCTAGCcctcctcctcc	0.629																																																0			1																																								1674208	SO:0001652	inframe_insertion	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1334_1336dupAGG	1.37:g.1684354_1684356dupCCT	ENSP00000341679:p.Glu445_Glu445dup		1674207	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Ins	INS	superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase	p.446in_frame_insE	ENST00000341426.5	37	c.1337_1336	CCDS30565.1	1																																																																																			-	NULL		0.629	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	protein_coding	OTTHUMT00000002769.1	-	NM_023018		1674208	-1	no_errors	NM_023018	genbank	human	validated	54_36p	in_frame_ins	INS	0.003:0.004	CCT
TP53	7157	genome.wustl.edu	37	17	7577110	7577110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:7577110delG	ENST00000269305.4	-	8	1017	c.828delC	c.(826-828)gccfs	p.A276fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A276fs	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	276	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A276A(2)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCCCAGGACAGGCACAAACAC	0.547		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	28	Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Insertion - Frameshift(2)|Unknown(2)|Complex - frameshift(2)|Substitution - coding silent(2)	upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|skin(2)|urinary_tract(1)|prostate(1)|pancreas(1)	17											72.0	62.0	65.0					17																	7577110		2203	4300	6503	7517835	SO:0001589	frameshift_variant	7157	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.828delC	17.37:g.7577110delG	ENSP00000269305:p.Ala276fs		7517835	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	Frame_Shift_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.C277fs	ENST00000269305.4	37	c.828	CCDS11118.1	17																																																																																			(deletion:cds_exon[7517744,7517880])	HMMPfam_P53,superfamily_p53-like transcription factors		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517835	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.999	-
CTSA	5476	genome.wustl.edu	37	20	44520238	44520240	+	In_Frame_Del	DEL	CTG	CTG	-	rs3080212|rs11468075|rs10582052|rs397784956|rs397839006	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	CTG	CTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr20:44520238_44520240delCTG	ENST00000372459.2	+	1	224_226	c.31_33delCTG	c.(31-33)ctgdel	p.L19del	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_In_Frame_Del_p.L37del|CTSA_ENST00000191018.5_In_Frame_Del_p.L19del|CTSA_ENST00000372484.3_In_Frame_Del_p.L37del|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	19				Missing (in Ref. 4; AAH00597). {ECO:0000305}.	glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.L29delL(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				gccgctgttcctgctgctgctgc	0.709														3252	0.649361	0.6868	0.7248	5008	,	,		16739	0.5784		0.6173	False		,,,				2504	0.6513															1	Deletion - In frame(1)	breast(1)	20																																								43953647	SO:0001651	inframe_deletion	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.31_33delCTG	20.37:g.44520247_44520249delCTG	ENSP00000361537:p.Leu19del		43953645	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	In_Frame_Del	DEL	superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10,PatternScan_CARBOXYPEPT_SER_SER,PatternScan_CARBOXYPEPT_SER_HIS	p.L32in_frame_del	ENST00000372459.2	37	c.85_87	CCDS46609.1	20																																																																																			(deletion:cds_exon[43953615,43953808])	NULL		0.709	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	protein_coding	OTTHUMT00000471297.2	CTG	NM_000308		43953647	+1	no_errors	NM_000308	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.066:0.073:0.080	-
C1orf87	127795	genome.wustl.edu	37	1	60505812	60505823	+	In_Frame_Del	DEL	GCGTCTTCATTT	GCGTCTTCATTT	-	rs539185288|rs551522403		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	GCGTCTTCATTT	GCGTCTTCATTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:60505812_60505823delGCGTCTTCATTT	ENST00000371201.3	-	5	620_631	c.513_524delAAATGAAGACGC	c.(511-525)acaaatgaagacgct>act	p.NEDA172del	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	172							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGAAGAAAAGCGTCTTCATTTGTTGTCCCAC	0.443																																					NSCLC(75;811 1386 4923 13371 51772)											0			1																																								60278411	SO:0001651	inframe_deletion	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.513_524delAAATGAAGACGC	1.37:g.60505812_60505823delGCGTCTTCATTT	ENSP00000360244:p.Asn172_Ala175del		60278400	Q6ZU07|Q8IVS0	In_Frame_Del	DEL	superfamily_EF-hand	p.NEDA172in_frame_del	ENST00000371201.3	37	c.524_513	CCDS614.1	1																																																																																			(deletion:cds_exon[60278177,60278440])	NULL		0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	protein_coding	OTTHUMT00000024943.1	GCGTCTTCATTT	NM_152377		60278411	-1	no_errors	NM_152377	genbank	human	predicted	54_36p	in_frame_del	DEL	0.046:0.014:0.015:0.126:0.139:0.153:0.155:0.124:0.051:0.038:0.038:0.035	-
