#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC5	10057	genome.wustl.edu	37	3	183685546	183685546	+	Silent	SNP	C	C	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr3:183685546C>T	ENST00000334444.6	-	12	2010	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	ABCC5_ENST00000265586.6_Silent_p.L590L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	590	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGATTCCAACCAGTTTACCCT	0.433																																						dbGAP											0													159.0	163.0	162.0					3																	183685546		1927	4134	6061	-	-	-	SO:0001819	synonymous_variant	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1770G>A	3.37:g.183685546C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L590	ENST00000334444.6	37	c.1770	CCDS43176.1	3																																																																																			ABCC5	-	superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000114770		0.433	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	716	0.00	0	C	NM_005688		183685546	183685546	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	silent	249	48.78	239	SNP	1.000	T
ALOXE3	59344	genome.wustl.edu	37	17	8012603	8012603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr17:8012603delA	ENST00000448843.2	-	12	1791	c.1451delT	c.(1450-1452)ttcfs	p.F484fs	ALOXE3_ENST00000380149.1_Frame_Shift_Del_p.F640fs|ALOXE3_ENST00000318227.3_Frame_Shift_Del_p.F616fs	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	484	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGTGTAGGTGAAGTGGGCCAG	0.652																																						dbGAP											0													64.0	57.0	59.0					17																	8012603		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1451delT	17.37:g.8012603delA	ENSP00000400581:p.Phe484fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Frame_Shift_Del	DEL	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.F616fs	ENST00000448843.2	37	c.1847	CCDS11130.1	17																																																																																			ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179148		0.652	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	65	0.00	0	A			8012603	8012603	-1	no_errors	ENST00000318227	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
AMDHD2	51005	genome.wustl.edu	37	16	2578618	2578619	+	Intron	INS	-	-	C	rs142686134		TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr16:2578618_2578619insC	ENST00000293971.6	+	9	1064				AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000302956.4_Frame_Shift_Ins_p.DP343fs|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Ins_p.DP343fs	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2						carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTGGCCCACGACCCCCCCAGAG	0.663																																						dbGAP											0									,	6,4258		0,6,2126					,	-6.3	0.0		dbSNP_132	42	4,8248		0,4,4122	no	frameshift,frameshift	AMDHD2	NM_015944.3,NM_001145815.1	,	0,10,6248	A1A1,A1R,RR		0.0485,0.1407,0.0799	,	,		10,12506				-	-	-	SO:0001627	intron_variant	0			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.971-32->C	16.37:g.2578625_2578625dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL77|Q8WV54	Frame_Shift_Ins	INS	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.R346fs	ENST00000293971.6	37	c.1028_1029		16																																																																																			AMDHD2	-	pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	ENSG00000162066		0.663	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	30	0.00	0	-	NM_015944		2578618	2578619	+1	no_errors	ENST00000413459	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	C
ATP1A4	480	genome.wustl.edu	37	1	160144375	160144375	+	Missense_Mutation	SNP	G	G	A	rs181284059	byFrequency	TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr1:160144375G>A	ENST00000368081.4	+	15	2620	c.2149G>A	c.(2149-2151)Gtt>Att	p.V717I	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_5'Flank	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	717					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGGAGCCGTTGTGGCCGT	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		21384	0.005		0.0	False		,,,				2504	0.0					dbGAP											0													92.0	75.0	81.0					1																	160144375		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2149G>A	1.37:g.160144375G>A	ENSP00000357060:p.Val717Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V717I	ENST00000368081.4	37	c.2149	CCDS1197.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	2.993	-0.207692	0.06180	.	.	ENSG00000132681	ENST00000368081	D	0.95307	-3.67	4.2	0.519	0.17035	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.167175	0.49916	N	0.000122	T	0.65375	0.2685	N	0.03238	-0.38	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61476	-0.7055	10	0.02654	T	1	.	7.6239	0.28202	0.7345:0.0:0.2655:0.0	.	717	Q13733	AT1A4_HUMAN	I	717	ENSP00000357060:V717I	ENSP00000357060:V717I	V	+	1	0	ATP1A4	158410999	1.000000	0.71417	0.814000	0.32528	0.926000	0.56050	3.081000	0.50120	-0.017000	0.14103	-0.355000	0.07637	GTT	ATP1A4	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132681		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	233	0.00	0	G	NM_144699		160144375	160144375	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	102	15.70	19	SNP	1.000	A
BIN1	274	genome.wustl.edu	37	2	127827627	127827627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr2:127827627delC	ENST00000316724.5	-	5	766	c.355delG	c.(355-357)gtgfs	p.V119fs	BIN1_ENST00000393041.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000259238.4_Frame_Shift_Del_p.V119fs|BIN1_ENST00000352848.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000409400.1_Frame_Shift_Del_p.V119fs|BIN1_ENST00000393040.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000376113.2_Frame_Shift_Del_p.V119fs|BIN1_ENST00000357970.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000351659.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000346226.3_Frame_Shift_Del_p.V119fs|BIN1_ENST00000348750.4_Frame_Shift_Del_p.V119fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	119	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCTGGTCCACCAGCTTCTGG	0.632																																						dbGAP											0													128.0	101.0	110.0					2																	127827627		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.355delG	2.37:g.127827627delC	ENSP00000316779:p.Val119fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Frame_Shift_Del	DEL	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.V119fs	ENST00000316724.5	37	c.355	CCDS2138.1	2																																																																																			BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000136717		0.632	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	60	0.00	0	C	NM_139343		127827627	127827627	-1	no_errors	ENST00000316724	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	1.000	-
C11orf1	64776	genome.wustl.edu	37	11	111753281	111753281	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr11:111753281G>A	ENST00000260276.3	+	2	572	c.235G>A	c.(235-237)Gac>Aac	p.D79N	C11orf1_ENST00000530214.1_Missense_Mutation_p.D79N|C11orf1_ENST00000529270.1_Missense_Mutation_p.D119N|C11orf1_ENST00000528125.1_Missense_Mutation_p.D33N	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	79						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GGAAAGATATGACCTGAGGAA	0.418																																						dbGAP											0													118.0	115.0	116.0					11																	111753281		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.235G>A	11.37:g.111753281G>A	ENSP00000260276:p.Asp79Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9X7|Q9NQC6	Missense_Mutation	SNP	pfam_UPF0686	p.D79N	ENST00000260276.3	37	c.235	CCDS8350.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365898	0.82463	.	.	ENSG00000137720	ENST00000528125;ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.55	4.57	0.56435	.	0.138708	0.45361	D	0.000373	T	0.53206	0.1782	M	0.76328	2.33	0.28701	N	0.904066	D;D	0.89917	1.0;0.998	D;D	0.72338	0.977;0.948	T	0.50092	-0.8868	10	0.72032	D	0.01	-20.0418	12.6842	0.56938	0.0876:0.0:0.9124:0.0	.	119;79	E9PMC1;Q9H5F2	.;CK001_HUMAN	N	33;79;79;95;119	ENSP00000433224:D33N;ENSP00000260276:D79N;ENSP00000435864:D79N;ENSP00000432128:D95N;ENSP00000431180:D119N	ENSP00000260276:D79N	D	+	1	0	C11orf1	111258491	0.960000	0.32886	0.997000	0.53966	0.960000	0.62799	3.389000	0.52516	2.890000	0.99128	0.585000	0.79938	GAC	C11orf1	-	pfam_UPF0686	ENSG00000137720		0.418	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf1	HGNC	protein_coding	OTTHUMT00000391650.1	155	0.00	0	G	NM_022761		111753281	111753281	+1	no_errors	ENST00000260276	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	0.960	A
C2CD2	25966	genome.wustl.edu	37	21	43321826	43321826	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr21:43321826C>G	ENST00000380486.3	-	12	1706	c.1465G>C	c.(1465-1467)Gct>Cct	p.A489P	C2CD2_ENST00000329623.7_Missense_Mutation_p.A334P	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	489						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A489T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCCACTTCAGCCACTGGATCC	0.448																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											131.0	98.0	109.0					21																	43321826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1465G>C	21.37:g.43321826C>G	ENSP00000369853:p.Ala489Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.A489P	ENST00000380486.3	37	c.1465	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930018	0.73327	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.79247	-1.25;-1.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89751	0.3940	10	0.52906	T	0.07	-22.2307	18.2622	0.90039	0.0:1.0:0.0:0.0	.	334;489	Q6P6D1;Q9Y426	.;CU025_HUMAN	P	334;489	ENSP00000329302:A334P;ENSP00000369853:A489P	ENSP00000329302:A334P	A	-	1	0	C2CD2	42194895	1.000000	0.71417	0.995000	0.50966	0.173000	0.22820	7.196000	0.77805	2.479000	0.83701	0.655000	0.94253	GCT	C2CD2	-	NULL	ENSG00000157617		0.448	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	237	0.00	0	C	NM_015500		43321826	43321826	-1	no_errors	ENST00000380486	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	1.000	G
CCDC170	80129	genome.wustl.edu	37	6	151859360	151859360	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr6:151859360G>C	ENST00000239374.7	+	3	466	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.E123Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	123																	AATCAGAACAGAAATCACAGC	0.358																																						dbGAP											0													71.0	60.0	64.0					6																	151859360		1838	4101	5939	-	-	-	SO:0001583	missense	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.367G>C	6.37:g.151859360G>C	ENSP00000239374:p.Glu123Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.E123Q	ENST00000239374.7	37	c.367	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667703	0.47677	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10860	2.84;2.83	5.68	4.82	0.62117	.	0.202389	0.44285	D	0.000467	T	0.18173	0.0436	M	0.76838	2.35	0.26685	N	0.971465	D	0.76494	0.999	D	0.68483	0.958	T	0.07770	-1.0755	10	0.48119	T	0.1	-17.1784	11.0247	0.47739	0.1426:0.0:0.8574:0.0	.	123	Q8IYT3	CF097_HUMAN	Q	123	ENSP00000239374:E123Q;ENSP00000356259:E123Q	ENSP00000239374:E123Q	E	+	1	0	C6orf97	151901053	1.000000	0.71417	0.143000	0.22291	0.449000	0.32228	4.121000	0.57904	1.415000	0.47037	0.655000	0.94253	GAA	CCDC170	-	NULL	ENSG00000120262		0.358	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	608	0.00	0	G	NM_025059		151859360	151859360	+1	no_errors	ENST00000367290	ensembl	human	known	69_37n	missense	1213	40.50	827	SNP	0.566	C
DENND6A	201627	genome.wustl.edu	37	3	57616502	57616502	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr3:57616502A>G	ENST00000311128.5	-	17	1527	c.1457T>C	c.(1456-1458)cTt>cCt	p.L486P	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	486					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGTTTTCTCAAGTGTTTTCAT	0.373																																						dbGAP											0													88.0	87.0	88.0					3																	57616502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1457T>C	3.37:g.57616502A>G	ENSP00000311401:p.Leu486Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.L486P	ENST00000311128.5	37	c.1457	CCDS33773.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522510	0.85600	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87694	0.2556	9	0.87932	D	0	-14.9791	16.3939	0.83550	1.0:0.0:0.0:0.0	.	486	Q8IWF6	F116A_HUMAN	P	486	.	ENSP00000311401:L486P	L	-	2	0	FAM116A	57591542	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.962000	0.93254	2.276000	0.75962	0.455000	0.32223	CTT	FAM116A	-	pfam_Afi1_N	ENSG00000174839		0.373	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM116A	HGNC	protein_coding	OTTHUMT00000351594.1	253	0.00	0	A	NM_152678		57616502	57616502	-1	no_errors	ENST00000311128	ensembl	human	known	69_37n	missense	151	23.74	47	SNP	1.000	G
FAM154A	158297	genome.wustl.edu	37	9	18928791	18928791	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr9:18928791C>A	ENST00000380534.4	-	4	963	c.684G>T	c.(682-684)agG>agT	p.R228S	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.R36S	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	228										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TTTCACAGGGCCTGAACTTCT	0.532																																						dbGAP											0													92.0	95.0	94.0					9																	18928791		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.684G>T	9.37:g.18928791C>A	ENSP00000369907:p.Arg228Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY58	Missense_Mutation	SNP	NULL	p.R228S	ENST00000380534.4	37	c.684	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822835	0.50739	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.17054	2.3;2.3	5.09	-2.13	0.07144	.	0.728074	0.13255	N	0.401731	T	0.15349	0.0370	L	0.56769	1.78	0.26130	N	0.980434	P	0.44344	0.833	B	0.43990	0.438	T	0.27226	-1.0080	10	0.15952	T	0.53	-1.039	6.8409	0.23963	0.1554:0.5919:0.0:0.2527	.	228	Q8IYX7	F154A_HUMAN	S	228;36	ENSP00000369907:R228S;ENSP00000438823:R36S	ENSP00000369907:R228S	R	-	3	2	FAM154A	18918791	0.557000	0.26546	0.432000	0.26747	0.950000	0.60333	0.073000	0.14640	-0.217000	0.10033	0.650000	0.86243	AGG	FAM154A	-	NULL	ENSG00000155875		0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	312	0.00	0	C	NM_153707		18928791	18928791	-1	no_errors	ENST00000380534	ensembl	human	known	69_37n	missense	137	23.46	42	SNP	0.877	A
FBN1	2200	genome.wustl.edu	37	15	48719825	48719825	+	Silent	SNP	C	C	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr15:48719825C>T	ENST00000316623.5	-	58	7598	c.7143G>A	c.(7141-7143)caG>caA	p.Q2381Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2381	TB 9.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCACAGTCCCCTGGAAAGGGC	0.532																																						dbGAP											0													97.0	93.0	94.0					15																	48719825		2198	4296	6494	-	-	-	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7143G>A	15.37:g.48719825C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.G838R	ENST00000316623.5	37	c.2512	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970616	0.53614	.	.	ENSG00000166147	ENST00000389087	.	.	.	5.44	4.52	0.55395	.	.	.	.	.	T	0.65407	0.2688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68315	-0.5441	5	0.87932	D	0	.	9.1995	0.37249	0.0:0.7759:0.0:0.2241	.	.	.	.	K	970	.	ENSP00000373739:R970K	R	-	2	0	FBN1	46507117	0.782000	0.28689	1.000000	0.80357	0.994000	0.84299	-0.126000	0.10563	1.441000	0.47550	0.650000	0.86243	AGG	FBN1	-	NULL	ENSG00000166147		0.532	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	222	0.00	0	C			48719825	48719825	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559133	ensembl	human	known	69_37n	missense	87	28.69	35	SNP	0.999	T
FILIP1L	11259	genome.wustl.edu	37	3	99569408	99569408	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr3:99569408T>A	ENST00000354552.3	-	5	1582	c.1112A>T	c.(1111-1113)gAa>gTa	p.E371V	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E371V|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E131V|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E131V	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	371						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTCTTCCACTTCAGCCATGAT	0.418																																						dbGAP											0													306.0	284.0	291.0					3																	99569408		1868	4106	5974	-	-	-	SO:0001583	missense	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1112A>T	3.37:g.99569408T>A	ENSP00000346560:p.Glu371Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.E371V	ENST00000354552.3	37	c.1112	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176442	0.78564	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.36340	1.4;1.26;1.4;1.27;1.28	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000060	T	0.63686	0.2532	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68663	-0.5349	10	0.87932	D	0	-16.9831	16.1637	0.81739	0.0:0.0:0.0:1.0	.	371;371	Q4L180-2;Q4L180	.;FIL1L_HUMAN	V	371;131;371;131;131;131	ENSP00000346560:E371V;ENSP00000419642:E131V;ENSP00000327880:E371V;ENSP00000373192:E131V;ENSP00000419874:E131V	ENSP00000327880:E371V	E	-	2	0	FILIP1L	101052098	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	8.036000	0.88901	2.216000	0.71823	0.533000	0.62120	GAA	FILIP1L	-	superfamily_Prefoldin	ENSG00000168386		0.418	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	1608	0.00	0	T	NM_014890		99569408	99569408	-1	no_errors	ENST00000354552	ensembl	human	known	69_37n	missense	776	22.46	225	SNP	1.000	A
GPC5	2262	genome.wustl.edu	37	13	92408591	92408591	+	Silent	SNP	A	A	C			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr13:92408591A>C	ENST00000377067.3	+	5	1569	c.1197A>C	c.(1195-1197)ggA>ggC	p.G399G	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	399					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATTCTATGGAGGTCTAGCTG	0.378																																						dbGAP											0													135.0	132.0	133.0					13																	92408591		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1197A>C	13.37:g.92408591A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R726|O60436|Q9BX27	Silent	SNP	pfam_Glypican	p.G399	ENST00000377067.3	37	c.1197	CCDS9468.1	13																																																																																			GPC5	-	pfam_Glypican	ENSG00000179399		0.378	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	800	0.00	0	A	NM_004466		92408591	92408591	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	silent	573	18.84	133	SNP	0.900	C
HEPH	9843	genome.wustl.edu	37	X	65392232	65392232	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chrX:65392232G>A	ENST00000343002.2	+	2	867	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000374727.3_Missense_Mutation_p.R71Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R122Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R71Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R71Q			Q9BQS7	HEPH_HUMAN	hephaestin	68	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACAAGAACCGGATAGGGGGA	0.478																																						dbGAP											0													45.0	43.0	44.0					X																	65392232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.203G>A	X.37:g.65392232G>A	ENSP00000343939:p.Arg68Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.R122Q	ENST00000343002.2	37	c.365		X	.	.	.	.	.	.	.	.	.	.	G	33	5.209775	0.95069	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31;-5.31;-5.31;-5.31	4.92	4.92	0.64577	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	M	0.81497	2.545	0.40254	D	0.978101	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.99816	1.1044	10	0.62326	D	0.03	.	15.748	0.77962	0.0:0.0:1.0:0.0	.	122;71;68	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	Q	122;71;68;71;71;68;68	ENSP00000430620:R122Q;ENSP00000363859:R71Q;ENSP00000396907:R68Q;ENSP00000411687:R71Q;ENSP00000413211:R71Q;ENSP00000343939:R68Q;ENSP00000398078:R68Q	ENSP00000343939:R68Q	R	+	2	0	HEPH	65308957	1.000000	0.71417	0.988000	0.46212	0.894000	0.52154	9.489000	0.97949	2.283000	0.76528	0.594000	0.82650	CGG	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	362	0.00	0	G	NM_138737		65392232	65392232	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	138	43.44	106	SNP	0.983	A
HIST1H2AA	221613	genome.wustl.edu	37	6	25726475	25726475	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr6:25726475A>G	ENST00000297012.3	-	1	315	c.281T>C	c.(280-282)cTc>cCc	p.L94P	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	94						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AAGCTTATTGAGTTCCTCATC	0.532																																						dbGAP											0													303.0	256.0	272.0					6																	25726475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.281T>C	6.37:g.25726475A>G	ENSP00000297012:p.Leu94Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L94P	ENST00000297012.3	37	c.281	CCDS4562.1	6	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365778	0.24684	.	.	ENSG00000164508	ENST00000297012	T	0.53640	0.61	3.65	3.65	0.41850	Histone-fold (2);Histone H2A (1);	0.000000	0.45361	D	0.000380	T	0.69940	0.3167	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78267	-0.2270	10	0.87932	D	0	.	10.9318	0.47222	1.0:0.0:0.0:0.0	.	94	Q96QV6	H2A1A_HUMAN	P	94	ENSP00000297012:L94P	ENSP00000297012:L94P	L	-	2	0	HIST1H2AA	25834454	1.000000	0.71417	0.806000	0.32338	0.002000	0.02628	7.037000	0.76531	1.903000	0.55091	0.529000	0.55759	CTC	HIST1H2AA	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000164508		0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	304	0.00	0	A	NM_170745		25726475	25726475	-1	no_errors	ENST00000297012	ensembl	human	known	69_37n	missense	198	22.35	57	SNP	1.000	G
IFT88	8100	genome.wustl.edu	37	13	21172876	21172876	+	Silent	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr13:21172876G>A	ENST00000319980.6	+	12	1035	c.708G>A	c.(706-708)aaG>aaA	p.K236K	IFT88_ENST00000382778.4_Silent_p.K236K|IFT88_ENST00000351808.5_Silent_p.K227K|IFT88_ENST00000537103.1_Silent_p.K208K	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	236					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAAAAATAAGATGTTTAGCA	0.303																																						dbGAP											0													114.0	117.0	116.0					13																	21172876		2202	4292	6494	-	-	-	SO:0001819	synonymous_variant	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.708G>A	13.37:g.21172876G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K236	ENST00000319980.6	37	c.708	CCDS31944.1	13																																																																																			IFT88	-	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000032742		0.303	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	276	0.00	0	G	NM_006531		21172876	21172876	+1	no_errors	ENST00000319980	ensembl	human	known	69_37n	silent	129	17.83	28	SNP	1.000	A
IGKV3-7	28915	genome.wustl.edu	37	2	89278193	89278193	+	RNA	SNP	T	T	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr2:89278193T>A	ENST00000390247.2	-	0	238									immunoglobulin kappa variable 3-7 (non-functional)																		CTGCTAACACTCTGACTGGCC	0.547																																						dbGAP											0													93.0	92.0	93.0					2																	89278193		1905	4110	6015	-	-	-			0			X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278193T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S48C	ENST00000390247.2	37	c.142		2																																																																																			IGKV3-7	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000243063		0.547	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3-7	HGNC	IG_V_gene	OTTHUMT00000323360.1	485	0.00	0	T	NG_000834		89278193	89278193	-1	no_stop_codon	ENST00000390247	ensembl	human	known	69_37n	missense	139	54.43	166	SNP	0.005	A
KBTBD8	84541	genome.wustl.edu	37	3	67053690	67053690	+	Missense_Mutation	SNP	C	C	T	rs267599928		TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr3:67053690C>T	ENST00000417314.2	+	3	348	c.299C>T	c.(298-300)tCg>tTg	p.S100L	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.S74L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GAAGCTGAATCGATGGATTTA	0.403																																						dbGAP											0													181.0	176.0	178.0					3																	67053690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.299C>T	3.37:g.67053690C>T	ENSP00000401878:p.Ser100Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW6|Q96JI5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S100L	ENST00000417314.2	37	c.299	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149580	0.57151	.	.	ENSG00000163376	ENST00000295568;ENST00000484414;ENST00000417314;ENST00000460784	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.23	5.23	0.72850	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.57101	0.813	T	0.82004	-0.0672	10	0.72032	D	0.01	.	19.1551	0.93507	0.0:1.0:0.0:0.0	.	100	Q8NFY9	KBTB8_HUMAN	L	74;23;100;74	ENSP00000295568:S74L;ENSP00000417341:S23L;ENSP00000401878:S100L;ENSP00000418075:S74L	ENSP00000295568:S74L	S	+	2	0	KBTBD8	67136380	1.000000	0.71417	0.985000	0.45067	0.793000	0.44817	7.748000	0.85085	2.584000	0.87258	0.585000	0.79938	TCG	KBTBD8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000163376		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	600	0.00	0	C	NM_032505		67053690	67053690	+1	no_errors	ENST00000417314	ensembl	human	known	69_37n	missense	143	21.86	40	SNP	1.000	T
KCNH2	3757	genome.wustl.edu	37	7	150648151	150648151	+	Missense_Mutation	SNP	G	G	A	rs8179012		TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr7:150648151G>A	ENST00000262186.5	-	8	2404	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	KCNH2_ENST00000430723.3_Missense_Mutation_p.S668L|KCNH2_ENST00000330883.4_Missense_Mutation_p.S328L|KCNH2_ENST00000392968.2_Missense_Mutation_p.S572L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	668					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGCTGTGCCCGAGTACAGCCG	0.652																																					GBM(137;110 1844 13671 20123 45161)	dbGAP											0													63.0	55.0	58.0					7																	150648151		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2003C>T	7.37:g.150648151G>A	ENSP00000262186:p.Ser668Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S668L	ENST00000262186.5	37	c.2003	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873816	0.91664	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.99304	-4.95;-5.07;-5.28;-5.72	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.92219	3.285	0.51767	D	0.999933	D;D;D;D;D	0.89917	0.999;1.0;0.958;0.999;0.998	D;D;P;D;D	0.76575	0.96;0.988;0.588;0.936;0.951	D	0.98136	1.0433	10	0.87932	D	0	.	14.7478	0.69501	0.0:0.0:1.0:0.0	.	572;668;328;668;328	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	L	328;572;668;328;668	ENSP00000328531:S328L;ENSP00000376695:S572L;ENSP00000262186:S668L;ENSP00000387657:S668L	ENSP00000262186:S668L	S	-	2	0	KCNH2	150279084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.757000	0.98924	2.126000	0.65437	0.313000	0.20887	TCG	KCNH2	-	superfamily_cNMP-bd-like	ENSG00000055118		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	56	0.00	0	G	NM_000238		150648151	150648151	-1	no_errors	ENST00000262186	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	A
CCDC183	84960	genome.wustl.edu	37	9	139699271	139699271	+	Intron	DEL	A	A	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr9:139699271delA	ENST00000338005.6	+	8	882				KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_Intron|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCTGAAATGTAAGCGCTCAGC	0.617																																						dbGAP											0													61.0	69.0	67.0					9																	139699271		2028	4170	6198	-	-	-	SO:0001627	intron_variant	0																														ENST00000338005.6:c.847+3A>-	9.37:g.139699271delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	RNA	DEL	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			KIAA1984-AS1	-	-	ENSG00000228544		0.617	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984-AS1	HGNC	protein_coding	OTTHUMT00000354899.1	56	0.00	0	A			139699271	139699271	-1	no_errors	ENST00000414656	ensembl	human	known	69_37n	rna	7	22.22	2	DEL	0.003	-
KIF21B	23046	genome.wustl.edu	37	1	200973473	200973474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr1:200973473_200973474insC	ENST00000422435.2	-	7	1326_1327	c.1010_1011insG	c.(1009-1011)ggcfs	p.G337fs	KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.G337fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.G337fs|KIF21B_ENST00000332129.2_Frame_Shift_Ins_p.G337fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	337	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATACCTGTTGCCCCCCAGCGA	0.604																																						dbGAP											0										2,4254		0,2,2126						0.8	1.0			50	2,8232		0,2,4115	no	frameshift	KIF21B	NM_017596.2		0,4,6241	A1A1,A1R,RR		0.0243,0.047,0.032				4,12486				-	-	-	SO:0001589	frameshift_variant	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1011dupG	1.37:g.200973479_200973479dupC	ENSP00000411831:p.Gly337fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.N338fs	ENST00000422435.2	37	c.1011_1010	CCDS58056.1	1																																																																																			KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000116852		0.604	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	16	0.00	0	-	XM_371332		200973473	200973474	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.760:1.000	C
MAGI3	260425	genome.wustl.edu	37	1	114191882	114191882	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr1:114191882G>A	ENST00000307546.9	+	13	2254	c.2179G>A	c.(2179-2181)Gtt>Att	p.V727I	MAGI3_ENST00000369617.4_Missense_Mutation_p.V752I|MAGI3_ENST00000369615.1_Missense_Mutation_p.V727I|MAGI3_ENST00000369611.4_Missense_Mutation_p.V727I	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	752					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATTTGGATGTTTTTCTTCG	0.358																																						dbGAP											0													96.0	97.0	97.0					1																	114191882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2179G>A	1.37:g.114191882G>A	ENSP00000304604:p.Val727Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V727I	ENST00000307546.9	37	c.2179	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509191	0.64410	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	L	0.46819	1.47	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.997;0.993;0.999	T	0.35748	-0.9776	10	0.13470	T	0.59	0.3809	19.3991	0.94620	0.0:0.0:1.0:0.0	.	727;727;752	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	I	752;727;727;727	ENSP00000358630:V752I;ENSP00000304604:V727I;ENSP00000358628:V727I;ENSP00000358624:V727I	ENSP00000304604:V727I	V	+	1	0	MAGI3	113993405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.374000	0.79633	2.583000	0.87209	0.655000	0.94253	GTT	MAGI3	-	superfamily_PDZ,pfscan_PDZ	ENSG00000081026		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	407	0.00	0	G	NM_152900		114191882	114191882	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	missense	133	26.92	49	SNP	1.000	A
MTUS2	23281	genome.wustl.edu	37	13	29600553	29600553	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr13:29600553C>A	ENST00000431530.3	+	1	1806	c.1748C>A	c.(1747-1749)cCc>cAc	p.P583H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	573						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTAGTTCCACCCCCTACTGAT	0.532																																						dbGAP											0													92.0	96.0	95.0					13																	29600553		2024	4182	6206	-	-	-	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1748C>A	13.37:g.29600553C>A	ENSP00000392057:p.Pro583His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.P583H	ENST00000431530.3	37	c.1748	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	c	16.84	3.234037	0.58886	.	.	ENSG00000132938	ENST00000431530	T	0.18338	2.22	5.92	5.08	0.68730	.	0.343732	0.24813	N	0.035381	T	0.36608	0.0973	L	0.56769	1.78	0.58432	D	0.999997	D	0.89917	1.0	D	0.70935	0.971	T	0.04565	-1.0942	9	.	.	.	.	13.9329	0.64007	0.0:0.9277:0.0:0.0723	.	573	Q5JR59	MTUS2_HUMAN	H	583	ENSP00000392057:P583H	.	P	+	2	0	MTUS2	28498553	0.064000	0.20934	0.004000	0.12327	0.004000	0.04260	3.711000	0.54868	1.502000	0.48669	0.655000	0.94253	CCC	MTUS2	-	NULL	ENSG00000132938		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	416	0.00	0	C	XM_166270		29600553	29600553	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	missense	121	38.27	75	SNP	0.141	A
MYO9B	4650	genome.wustl.edu	37	19	17313052	17313052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr19:17313052delC	ENST00000594824.1	+	28	4923	c.4776delC	c.(4774-4776)ttcfs	p.F1592fs	MYO9B_ENST00000397274.2_Frame_Shift_Del_p.F1592fs|MYO9B_ENST00000595618.1_Frame_Shift_Del_p.F1592fs			Q13459	MYO9B_HUMAN	myosin IXB	1592	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCAACCTCTTCCAGTCACTGC	0.577																																						dbGAP											0													42.0	44.0	44.0					19																	17313052		2060	4202	6262	-	-	-	SO:0001589	frameshift_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4776delC	19.37:g.17313052delC	ENSP00000471367:p.Phe1592fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Q1593fs	ENST00000594824.1	37	c.4776		19																																																																																			MYO9B	-	NULL	ENSG00000099331		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	49	0.00	0	C			17313052	17313052	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	frame_shift_del	2	57.14	4	DEL	1.000	-
NEK9	91754	genome.wustl.edu	37	14	75584015	75584015	+	Silent	SNP	T	T	C			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr14:75584015T>C	ENST00000238616.5	-	6	803	c.645A>G	c.(643-645)ccA>ccG	p.P215P		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACATGTAATATGGGGTTCCCA	0.373																																						dbGAP											0													106.0	98.0	101.0					14																	75584015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.645A>G	14.37:g.75584015T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P215	ENST00000238616.5	37	c.645	CCDS9839.1	14																																																																																			NEK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000119638		0.373	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	321	0.00	0	T	NM_033116		75584015	75584015	-1	no_errors	ENST00000238616	ensembl	human	known	69_37n	silent	168	15.58	31	SNP	0.991	C
PCDH15	65217	genome.wustl.edu	37	10	55782835	55782835	+	Silent	SNP	G	G	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr10:55782835G>T	ENST00000320301.6	-	19	2737	c.2343C>A	c.(2341-2343)gtC>gtA	p.V781V	PCDH15_ENST00000437009.1_Silent_p.V710V|PCDH15_ENST00000395432.2_Silent_p.V744V|PCDH15_ENST00000395433.1_Silent_p.V759V|PCDH15_ENST00000395430.1_Silent_p.V781V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Silent_p.V781V|PCDH15_ENST00000409834.1_Silent_p.V392V|PCDH15_ENST00000373965.2_Silent_p.V788V|PCDH15_ENST00000395438.1_Silent_p.V781V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.V786V|PCDH15_ENST00000361849.3_Silent_p.V781V|PCDH15_ENST00000395445.1_Silent_p.V788V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	781	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTAGTCCCTGACTTCTCTGT	0.408										HNSCC(58;0.16)																												dbGAP											0													167.0	158.0	161.0					10																	55782835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2343C>A	10.37:g.55782835G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V781	ENST00000320301.6	37	c.2343	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	563	0.00	0	G	NM_033056		55782835	55782835	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	silent	183	21.94	52	SNP	0.084	T
NHLRC2	374354	genome.wustl.edu	37	10	115661613	115661613	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr10:115661613A>T	ENST00000369301.3	+	7	1540	c.1328A>T	c.(1327-1329)gAt>gTt	p.D443V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	443										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCACTGAAAGATGGAGCAGTG	0.512																																						dbGAP											0													150.0	151.0	151.0					10																	115661613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1328A>T	10.37:g.115661613A>T	ENSP00000358307:p.Asp443Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.D443V	ENST00000369301.3	37	c.1328	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698091	0.88830	.	.	ENSG00000196865	ENST00000369301	D	0.90504	-2.68	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	M	0.89478	3.035	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.95716	0.8762	10	0.59425	D	0.04	-20.7793	15.8388	0.78824	1.0:0.0:0.0:0.0	.	443	Q8NBF2	NHLC2_HUMAN	V	443	ENSP00000358307:D443V	ENSP00000358307:D443V	D	+	2	0	NHLRC2	115651603	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.300000	0.96151	2.129000	0.65627	0.533000	0.62120	GAT	NHLRC2	-	NULL	ENSG00000196865		0.512	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	636	0.00	0	A	NM_198514		115661613	115661613	+1	no_errors	ENST00000369301	ensembl	human	known	69_37n	missense	231	25.96	81	SNP	1.000	T
PCDHAC2	56134	genome.wustl.edu	37	5	140346876	140346876	+	Silent	SNP	C	C	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr5:140346876C>T	ENST00000289269.5	+	1	1057	c.525C>T	c.(523-525)ccC>ccT	p.P175P	PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	175	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGACCCCGACGTGGGCG	0.607																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											0													25.0	26.0	26.0					5																	140346876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.525C>T	5.37:g.140346876C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P175	ENST00000289269.5	37	c.525	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.607	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	41	0.00	0	C	NM_018899		140346876	140346876	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.000	T
RYR1	6261	genome.wustl.edu	37	19	38976819	38976819	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr19:38976819C>G	ENST00000359596.3	+	34	5524	c.5524C>G	c.(5524-5526)Ctc>Gtc	p.L1842V	RYR1_ENST00000360985.3_Missense_Mutation_p.L1842V|RYR1_ENST00000355481.4_Missense_Mutation_p.L1842V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1842	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTGCCTGTGCTCAAGCTCGT	0.602																																						dbGAP											0													153.0	147.0	149.0					19																	38976819		2166	4252	6418	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5524C>G	19.37:g.38976819C>G	ENSP00000352608:p.Leu1842Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L1842V	ENST00000359596.3	37	c.5524	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211873	0.39102	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74106	-0.81;-0.81;-0.81	3.7	3.7	0.42460	.	0.000000	0.53938	U	0.000057	D	0.84284	0.5438	M	0.70275	2.135	0.37446	D	0.914601	D;B	0.71674	0.998;0.434	D;B	0.77557	0.99;0.347	D	0.87694	0.2556	10	0.51188	T	0.08	.	15.2171	0.73277	0.0:1.0:0.0:0.0	.	1842;1842	P21817-2;P21817	.;RYR1_HUMAN	V	1842	ENSP00000352608:L1842V;ENSP00000347667:L1842V;ENSP00000354254:L1842V	ENSP00000347667:L1842V	L	+	1	0	RYR1	43668659	0.972000	0.33761	1.000000	0.80357	0.952000	0.60782	0.589000	0.23939	1.886000	0.54624	0.585000	0.79938	CTC	RYR1	-	NULL	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	391	0.00	0	C			38976819	38976819	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	139	20.90	37	SNP	1.000	G
SAGE1	55511	genome.wustl.edu	37	X	134991157	134991157	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chrX:134991157G>A	ENST00000370709.3	+	12	1576	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	SAGE1_ENST00000535938.1_Missense_Mutation_p.D526N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.D526N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	526						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAGTACCAAGGATCTGTGTAT	0.393																																						dbGAP											0													204.0	143.0	164.0					X																	134991157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1576G>A	X.37:g.134991157G>A	ENSP00000359743:p.Asp526Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Missense_Mutation	SNP	NULL	p.D526N	ENST00000370709.3	37	c.1576	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770658	0.31320	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.58358	0.34;0.34;0.34	0.789	0.789	0.18607	.	0.062823	0.64402	N	0.000010	T	0.52224	0.1721	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.66979	0.948	T	0.39057	-0.9632	9	0.56958	D	0.05	.	.	.	.	.	526	Q9NXZ1	SAGE1_HUMAN	N	526	ENSP00000323191:D526N;ENSP00000445959:D526N;ENSP00000359743:D526N	ENSP00000323191:D526N	D	+	1	0	SAGE1	134818823	0.003000	0.15002	0.007000	0.13788	0.057000	0.15508	0.882000	0.28186	0.664000	0.31047	0.272000	0.19324	GAT	SAGE1	-	NULL	ENSG00000181433		0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	343	0.29	1	G	NM_018666		134991157	134991157	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	140	16.17	27	SNP	0.007	A
SCN10A	6336	genome.wustl.edu	37	3	38739525	38739525	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr3:38739525G>A	ENST00000449082.2	-	27	5185	c.5186C>T	c.(5185-5187)aCg>aTg	p.T1729M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1729					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCTCTCCTCCGTGGCCACATT	0.483																																						dbGAP											0													111.0	106.0	108.0					3																	38739525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5186C>T	3.37:g.38739525G>A	ENSP00000390600:p.Thr1729Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.T1729M	ENST00000449082.2	37	c.5186	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385227	0.61956	.	.	ENSG00000185313	ENST00000449082	D	0.96365	-3.99	5.38	4.5	0.54988	.	0.055263	0.64402	N	0.000001	D	0.98210	0.9408	M	0.89414	3.03	0.42989	D	0.99448	D	0.89917	1.0	D	0.87578	0.998	D	0.99572	1.0971	10	0.87932	D	0	.	14.078	0.64903	0.072:0.0:0.928:0.0	.	1729	Q9Y5Y9	SCNAA_HUMAN	M	1729	ENSP00000390600:T1729M	ENSP00000390600:T1729M	T	-	2	0	SCN10A	38714529	1.000000	0.71417	0.910000	0.35882	0.995000	0.86356	6.332000	0.72934	1.495000	0.48549	0.655000	0.94253	ACG	SCN10A	-	NULL	ENSG00000185313		0.483	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	570	0.17	1	G	NM_006514		38739525	38739525	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	316	21.34	86	SNP	0.996	A
SEPT10	151011	genome.wustl.edu	37	2	110301779	110301779	+	3'UTR	SNP	A	A	C	rs200598502	byFrequency	TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr2:110301779A>C	ENST00000397712.2	-	0	1850				SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.F519V|SEPT10_ENST00000468616.1_5'Flank	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*107T>G	2.37:g.110301779A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.F519V	ENST00000397712.2	37	c.1555	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973228	0.18736	.	.	ENSG00000186522	ENST00000356688	T	0.54279	0.58	5.37	1.66	0.24008	.	1.901300	0.02724	N	0.114273	T	0.40645	0.1125	.	.	.	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	9	0.87932	D	0	.	2.1719	0.03852	0.5923:0.1635:0.0874:0.1567	.	519	B5ME97	.	V	519	ENSP00000349116:F519V	ENSP00000349116:F519V	F	-	1	0	SEPT10	109659068	0.087000	0.21565	0.491000	0.27477	0.028000	0.11728	0.685000	0.25378	0.099000	0.17552	0.482000	0.46254	TTT	SEPT10	-	NULL	ENSG00000186522		0.338	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	88	0.00	0	A	NM_144710		110301779	110301779	-1	no_errors	ENST00000356688	ensembl	human	putative	69_37n	missense	36	25.00	12	SNP	0.348	C
SCN2A	6326	genome.wustl.edu	37	2	166152440	166152440	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr2:166152440G>A	ENST00000375437.2	+	2	397	c.107G>A	c.(106-108)aGa>aAa	p.R36K	SCN2A_ENST00000283256.6_Missense_Mutation_p.R36K|SCN2A_ENST00000357398.3_Missense_Mutation_p.R36K|SCN2A_ENST00000375427.2_Missense_Mutation_p.R36K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	36					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGCTAAGAGACCCAAACAG	0.468																																						dbGAP											0													100.0	89.0	93.0					2																	166152440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.107G>A	2.37:g.166152440G>A	ENSP00000364586:p.Arg36Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R36K	ENST00000375437.2	37	c.107	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	4.816	0.151652	0.09185	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.95756	-3.8;-3.73;-3.73;-3.73;-3.73	5.55	4.56	0.56223	.	0.950407	0.08797	N	0.892417	T	0.80696	0.4672	N	0.00873	-1.125	0.44142	D	0.996935	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.76634	-0.2887	10	0.02654	T	1	.	3.5927	0.07994	0.3492:0.0:0.6508:0.0	.	36;36	Q99250-2;Q99250	.;SCN2A_HUMAN	K	36	ENSP00000406454:R36K;ENSP00000364586:R36K;ENSP00000349973:R36K;ENSP00000283256:R36K;ENSP00000364576:R36K	ENSP00000283256:R36K	R	+	2	0	SCN2A	165860686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.410000	0.59774	2.619000	0.88677	0.655000	0.94253	AGA	SCN2A	-	NULL	ENSG00000136531		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	262	0.00	0	G	NM_021007		166152440	166152440	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	112	26.45	41	SNP	1.000	A
SLC25A39	51629	genome.wustl.edu	37	17	42397996	42397996	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr17:42397996delT	ENST00000377095.5	-	9	914	c.795delA	c.(793-795)tcafs	p.S265fs	SLC25A39_ENST00000586016.1_Frame_Shift_Del_p.S133fs|SLC25A39_ENST00000590194.1_Frame_Shift_Del_p.S257fs|SLC25A39_ENST00000225308.8_Frame_Shift_Del_p.S257fs|SLC25A39_ENST00000537904.2_Frame_Shift_Del_p.S242fs	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	265					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCACCGTCCCTGAGATGCCAC	0.597																																						dbGAP											0													93.0	99.0	97.0					17																	42397996		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.795delA	17.37:g.42397996delT	ENSP00000366299:p.Ser265fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Frame_Shift_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.T267fs	ENST00000377095.5	37	c.795	CCDS45700.1	17																																																																																			SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000013306		0.597	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	76	0.00	0	T	NM_016016		42397996	42397996	-1	no_errors	ENST00000377095	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.997	-
TNFRSF21	27242	genome.wustl.edu	37	6	47202423	47202423	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr6:47202423C>A	ENST00000296861.2	-	5	2114	c.1721G>T	c.(1720-1722)gGt>gTt	p.G574V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	574					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.G574D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AATAAAGGAACCGTTCCTGCT	0.592																																						dbGAP											1	Substitution - Missense(1)	skin(1)											46.0	44.0	44.0					6																	47202423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1721G>T	6.37:g.47202423C>A	ENSP00000296861:p.Gly574Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.G574V	ENST00000296861.2	37	c.1721	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825082	0.90955	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.80824	-1.42	5.26	5.26	0.73747	.	0.089139	0.85682	D	0.000000	D	0.82779	0.5111	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85149	0.0985	10	0.87932	D	0	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	574	O75509	TNR21_HUMAN	V	574;263	ENSP00000296861:G574V	ENSP00000296861:G574V	G	-	2	0	TNFRSF21	47310382	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	7.769000	0.85360	2.636000	0.89361	0.650000	0.86243	GGT	TNFRSF21	-	NULL	ENSG00000146072		0.592	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	35	0.00	0	C	NM_014452		47202423	47202423	-1	no_errors	ENST00000296861	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	GRCh37	CM942135	TP53	M	rs148924904						53.0	54.0	53.0					17																	7578442		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y163C	ENST00000269305.4	37	c.488	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	165	0.00	0	T	NM_000546		7578442	7578442	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	26	60.00	39	SNP	1.000	C
TRMT10A	93587	genome.wustl.edu	37	4	100479258	100479258	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr4:100479258C>T	ENST00000273962.3	-	3	608	c.296G>A	c.(295-297)aGc>aAc	p.S99N	TRMT10A_ENST00000394877.3_Missense_Mutation_p.S99N|TRMT10A_ENST00000394876.2_Missense_Mutation_p.S99N	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	99	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GCGAAGGGTGCTATGAACAAC	0.358																																						dbGAP											0													237.0	191.0	206.0					4																	100479258		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.296G>A	4.37:g.100479258C>T	ENSP00000273962:p.Ser99Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.S99N	ENST00000273962.3	37	c.296	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853655	0.51270	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.51325	2.06;2.06;2.06;1.33;0.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.69463	2.115	0.58432	D	0.999999	B	0.30455	0.28	B	0.32980	0.156	T	0.43245	-0.9403	10	0.21540	T	0.41	-5.9896	20.3754	0.98918	0.0:1.0:0.0:0.0	.	99	Q8TBZ6	RG9D2_HUMAN	N	99	ENSP00000378343:S99N;ENSP00000273962:S99N;ENSP00000378342:S99N;ENSP00000397551:S99N;ENSP00000423628:S99N	ENSP00000273962:S99N	S	-	2	0	RG9MTD2	100698281	1.000000	0.71417	0.152000	0.22495	0.658000	0.38924	5.858000	0.69532	2.894000	0.99253	0.591000	0.81541	AGC	TRMT10A	-	pirsf_tRNA_MeTfrase_TRM10	ENSG00000145331		0.358	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	136	0.00	0	C	NM_152292		100479258	100479258	-1	no_errors	ENST00000273962	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	0.946	T
UNC13D	201294	genome.wustl.edu	37	17	73836376	73836377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr17:73836376_73836377insG	ENST00000207549.4	-	10	1166_1167	c.787_788insC	c.(787-789)ctgfs	p.L263fs	UNC13D_ENST00000412096.2_Frame_Shift_Ins_p.L263fs|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	263	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGGGTTCCAGGGGGTACCAC	0.653									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.788dupC	17.37:g.73836381_73836381dupG	ENSP00000207549:p.Leu263fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG9|Q9H7K5	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L263fs	ENST00000207549.4	37	c.788_787	CCDS11730.1	17																																																																																			UNC13D	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000092929		0.653	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	21	0.00	0	-	XM_113950		73836376	73836377	-1	no_errors	ENST00000412096	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.974	G
USPL1	10208	genome.wustl.edu	37	13	31195310	31195310	+	Silent	SNP	G	G	A			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr13:31195310G>A	ENST00000255304.4	+	2	375	c.33G>A	c.(31-33)ttG>ttA	p.L11L	USPL1_ENST00000465952.1_Intron	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	11					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAATGGTTTGCCAGTGATTG	0.398																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													159.0	159.0	159.0					13																	31195310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.33G>A	13.37:g.31195310G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.L11	ENST00000255304.4	37	c.33	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.398	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	360	0.00	0	G	NM_005800		31195310	31195310	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	silent	77	31.86	36	SNP	1.000	A
WDR45B	56270	genome.wustl.edu	37	17	80585138	80585140	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr17:80585138_80585140delTCT	ENST00000392325.4	-	4	466_468	c.272_274delAGA	c.(271-276)aagact>act	p.K91del	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	91																	TCAATAACAGTCTTCTTCTTCAG	0.424																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.272_274delAGA	17.37:g.80585144_80585146delTCT	ENSP00000376139:p.Lys91del	Somatic		WXS	Illumina GAIIx	Phase_IV	O95328|Q2MCP6|Q6IBN2	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K91in_frame_del	ENST00000392325.4	37	c.274_272	CCDS11815.2	17																																																																																			WDR45L	-	superfamily_WD40_repeat_dom	ENSG00000141580		0.424	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45L	HGNC	protein_coding	OTTHUMT00000316536.1	506	0.00	0	TCT	NM_019613		80585138	80585140	-1	no_errors	ENST00000392325	ensembl	human	known	69_37n	in_frame_del	91	45.03	77	DEL	1.000:1.000:1.000	-
ZFPL1	7542	genome.wustl.edu	37	11	64855582	64855582	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08I-01A-11W-A019-09	TCGA-A8-A08I-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4525400d-0a2c-4cc7-9c71-9ad6d9faf93f	7e92cfa5-68b6-4dd5-a911-b3a0f44a1635	g.chr11:64855582C>T	ENST00000294258.3	+	8	1081	c.929C>T	c.(928-930)tCc>tTc	p.S310F	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	310					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GTGGGCCCCTCCTGAGCCCCC	0.657																																						dbGAP											0													53.0	54.0	54.0					11																	64855582		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.929C>T	11.37:g.64855582C>T	ENSP00000294258:p.Ser310Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.S310F	ENST00000294258.3	37	c.929	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750908	0.49257	.	.	ENSG00000162300	ENST00000294258	T	0.47528	0.84	4.94	4.94	0.65067	.	0.516315	0.20059	N	0.100137	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	P	0.52061	0.95	P	0.52424	0.698	T	0.47812	-0.9088	10	0.87932	D	0	.	13.5	0.61449	0.0:1.0:0.0:0.0	.	310	O95159	ZFPL1_HUMAN	F	310	ENSP00000294258:S310F	ENSP00000294258:S310F	S	+	2	0	ZFPL1	64612158	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	3.822000	0.55708	2.563000	0.86464	0.655000	0.94253	TCC	ZFPL1	-	NULL	ENSG00000162300		0.657	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	97	0.00	0	C	NM_006782		64855582	64855582	+1	no_errors	ENST00000294258	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
