#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
AARS	16	genome.wustl.edu	37	16	70295012	70295012	+	Silent	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr16:70295012G>A	ENST00000261772.8	-	13	1863	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCAATGTGTAGCACATACCCT	0.453																																						dbGAP											0													169.0	142.0	151.0					16																	70295012		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1720C>T	16.37:g.70295012G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core	p.A22V	ENST00000261772.8	37	c.65	CCDS32474.1	16																																																																																			AARS	-	pfscan_Ala-tRNA-synth_IIc_core	ENSG00000090861		0.453	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	248	0.00	0	G	NM_001605		70295012	70295012	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565361	ensembl	human	novel	69_37n	missense	144	29.41	60	SNP	1.000	A
ACTN2	88	genome.wustl.edu	37	1	236902735	236902735	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:236902735delA	ENST00000366578.4	+	10	1176	c.1010delA	c.(1009-1011)gagfs	p.E337fs	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Frame_Shift_Del_p.E337fs	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	337					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AAGGTGCAGGAGAAATGCCAG	0.587																																						dbGAP											0													145.0	118.0	127.0					1																	236902735		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1010delA	1.37:g.236902735delA	ENSP00000355537:p.Glu337fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E337fs	ENST00000366578.4	37	c.1010	CCDS1613.1	1																																																																																			ACTN2	-	pfam_Spectrin_repeat	ENSG00000077522		0.587	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	108	0.00	0	A	NM_001103		236902735	236902735	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	frame_shift_del	89	16.36	18	DEL	1.000	-
ADAMTS19	171019	genome.wustl.edu	37	5	129040021	129040021	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr5:129040021G>T	ENST00000274487.4	+	21	3376	c.3231G>T	c.(3229-3231)agG>agT	p.R1077S	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1077	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGACCCAGGGAGGCTGAAG	0.453																																						dbGAP											0													196.0	173.0	181.0					5																	129040021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3231G>T	5.37:g.129040021G>T	ENSP00000274487:p.Arg1077Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1077S	ENST00000274487.4	37	c.3231	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209385	0.39003	.	.	ENSG00000145808	ENST00000274487	T	0.17691	2.26	4.29	3.43	0.39272	.	0.069868	0.56097	D	0.000039	T	0.09202	0.0227	N	0.16066	0.365	0.38173	D	0.939383	P	0.43938	0.822	B	0.40702	0.338	T	0.26744	-1.0094	9	.	.	.	.	7.679	0.28502	0.2409:0.0:0.7591:0.0	.	1077	Q8TE59	ATS19_HUMAN	S	1077	ENSP00000274487:R1077S	.	R	+	3	2	ADAMTS19	129067920	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.277000	0.33167	1.414000	0.47017	0.655000	0.94253	AGG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.453	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	140	0.00	0	G	NM_133638		129040021	129040021	+1	no_errors	ENST00000274487	ensembl	human	known	69_37n	missense	100	15.97	19	SNP	1.000	T
ADAMTSL2	9719	genome.wustl.edu	37	9	136412259	136412259	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr9:136412259G>A	ENST00000354484.4	+	9	1420	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R288Q|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R397Q	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	288					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AAGTACAGGCGGCCCATGGAT	0.577																																						dbGAP											0													175.0	165.0	168.0					9																	136412259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.863G>A	9.37:g.136412259G>A	ENSP00000346478:p.Arg288Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0D5|O60345	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.R397Q	ENST00000354484.4	37	c.1190	CCDS6976.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.662978	0.96745	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.54071	0.59;0.59;0.59	5.16	5.16	0.70880	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000013	T	0.79423	0.4443	M	0.92923	3.36	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.82360	-0.0496	10	0.39692	T	0.17	.	18.6451	0.91408	0.0:0.0:1.0:0.0	.	288	Q86TH1	ATL2_HUMAN	Q	288;397;288	ENSP00000346478:R288Q;ENSP00000376781:R397Q;ENSP00000376780:R288Q	ENSP00000346478:R288Q	R	+	2	0	ADAMTSL2	135402080	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.714000	0.98744	2.385000	0.81259	0.561000	0.74099	CGG	ADAMTSL2	-	pfam_ADAM_spacer1	ENSG00000197859		0.577	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL2	HGNC	protein_coding	OTTHUMT00000254619.1	70	0.00	0	G	NM_014694		136412259	136412259	+1	no_errors	ENST00000393061	ensembl	human	known	69_37n	missense	39	33.90	20	SNP	1.000	A
AKAP6	9472	genome.wustl.edu	37	14	33291628	33291628	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr14:33291628G>A	ENST00000280979.4	+	13	4779	c.4609G>A	c.(4609-4611)Gat>Aat	p.D1537N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1537					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCATGAAATGGATCGCATTTC	0.368																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													103.0	107.0	106.0					14																	33291628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4609G>A	14.37:g.33291628G>A	ENSP00000280979:p.Asp1537Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.D1537N	ENST00000280979.4	37	c.4609	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386769	0.61956	.	.	ENSG00000151320	ENST00000280979	T	0.07216	3.21	5.79	5.79	0.91817	.	0.132970	0.50627	D	0.000119	T	0.14787	0.0357	M	0.62723	1.935	0.80722	D	1	P	0.39665	0.682	B	0.39706	0.307	T	0.00369	-1.1784	10	0.66056	D	0.02	-4.7922	18.196	0.89822	0.0:0.0:1.0:0.0	.	1537	Q13023	AKAP6_HUMAN	N	1537	ENSP00000280979:D1537N	ENSP00000280979:D1537N	D	+	1	0	AKAP6	32361379	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.594000	0.67557	2.737000	0.93849	0.650000	0.86243	GAT	AKAP6	-	NULL	ENSG00000151320		0.368	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	81	0.00	0	G	NM_004274		33291628	33291628	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	1.000	A
AMDHD1	144193	genome.wustl.edu	37	12	96360231	96360231	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:96360231C>A	ENST00000266736.2	+	8	1244	c.1138C>A	c.(1138-1140)Cac>Aac	p.H380N		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	380					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GTCTCACACACACGGATCGTT	0.483																																						dbGAP											0													232.0	209.0	217.0					12																	96360231		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1138C>A	12.37:g.96360231C>A	ENSP00000266736:p.His380Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.H380N	ENST00000266736.2	37	c.1138	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101506	0.76983	.	.	ENSG00000139344	ENST00000266736	T	0.71698	-0.59	5.82	5.82	0.92795	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.043838	0.85682	D	0.000000	T	0.80019	0.4547	M	0.85710	2.77	0.80722	D	1	P	0.45011	0.848	P	0.47118	0.538	T	0.78102	-0.2335	10	0.27082	T	0.32	2.9866	20.093	0.97828	0.0:1.0:0.0:0.0	.	380	Q96NU7	HUTI_HUMAN	N	380	ENSP00000266736:H380N	ENSP00000266736:H380N	H	+	1	0	AMDHD1	94884362	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.487000	0.81328	2.756000	0.94617	0.561000	0.74099	CAC	AMDHD1	-	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.483	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	95	0.00	0	C	NM_152435		96360231	96360231	+1	no_errors	ENST00000266736	ensembl	human	known	69_37n	missense	67	26.88	25	SNP	1.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48646591	48646591	+	Silent	SNP	C	C	G			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr17:48646591C>G	ENST00000359106.5	+	3	420	c.420C>G	c.(418-420)ggC>ggG	p.G140G	CACNA1G_ENST00000507896.1_Silent_p.G140G|CACNA1G_ENST00000510115.1_Silent_p.G140G|CACNA1G_ENST00000502264.1_Silent_p.G140G|CACNA1G_ENST00000416767.4_Silent_p.G140G|CACNA1G_ENST00000515411.1_Silent_p.G140G|CACNA1G_ENST00000515165.1_Silent_p.G140G|CACNA1G_ENST00000514717.1_Silent_p.G140G|CACNA1G_ENST00000507336.1_Silent_p.G140G|CACNA1G_ENST00000514079.1_Silent_p.G140G|CACNA1G_ENST00000512389.1_Silent_p.G140G|CACNA1G_ENST00000513964.1_Silent_p.G140G|CACNA1G_ENST00000507609.1_Silent_p.G140G|CACNA1G_ENST00000503485.1_Silent_p.G140G|CACNA1G_ENST00000507510.2_Silent_p.G140G|CACNA1G_ENST00000360761.4_Silent_p.G140G|CACNA1G_ENST00000354983.4_Silent_p.G140G|CACNA1G_ENST00000358244.5_Silent_p.G140G|CACNA1G_ENST00000510366.1_Silent_p.G140G|CACNA1G_ENST00000505165.1_Silent_p.G140G|CACNA1G_ENST00000429973.2_Silent_p.G140G|CACNA1G_ENST00000352832.5_Silent_p.G140G|CACNA1G_ENST00000514181.1_Silent_p.G140G|CACNA1G_ENST00000513689.2_Silent_p.G140G|CACNA1G_ENST00000442258.2_Silent_p.G140G|CACNA1G_ENST00000515765.1_Silent_p.G140G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	140					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGCCTTGGGCATCTTTGGGA	0.532																																						dbGAP											0													159.0	154.0	155.0					17																	48646591		2020	4180	6200	-	-	-	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.420C>G	17.37:g.48646591C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G140	ENST00000359106.5	37	c.420	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.532	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	400	0.00	0	C	NM_018896		48646591	48646591	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	silent	250	32.98	123	SNP	0.925	G
BAHCC1	57597	genome.wustl.edu	37	17	79429821	79429821	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr17:79429821G>A	ENST00000307745.7	+	31	7439	c.7439G>A	c.(7438-7440)gGc>gAc	p.G2480D	RP11-1055B8.8_ENST00000572590.1_RNA																							ATCGTGCGGGGCGAGGAGACC	0.682																																						dbGAP											0													102.0	118.0	113.0					17																	79429821		2079	4214	6293	-	-	-	SO:0001583	missense	0																														ENST00000307745.7:c.7439G>A	17.37:g.79429821G>A	ENSP00000303486:p.Gly2480Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G2480D	ENST00000307745.7	37	c.7439		17	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163678	0.78226	.	.	ENSG00000171282	ENST00000307745	T	0.14893	2.47	4.9	4.9	0.64082	.	.	.	.	.	T	0.24005	0.0581	M	0.62723	1.935	0.80722	D	1	P	0.38677	0.642	B	0.39617	0.305	T	0.04115	-1.0976	9	0.62326	D	0.03	.	16.8463	0.85981	0.0:0.0:1.0:0.0	.	2480	Q9P281	BAHC1_HUMAN	D	2480	ENSP00000303486:G2480D	ENSP00000303486:G2480D	G	+	2	0	AC110285.1	77044416	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.478000	0.81082	2.266000	0.75297	0.561000	0.74099	GGC	BAHCC1	-	NULL	ENSG00000171282		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		51	0.00	0	G			79429821	79429821	+1	no_errors	ENST00000307745	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	1.000	A
CENPE	1062	genome.wustl.edu	37	4	104115811	104115811	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr4:104115811C>T	ENST00000265148.3	-	6	597	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	CENPE_ENST00000380026.3_Missense_Mutation_p.E170K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	170	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TATACAACTTCTTCTGTGAGA	0.318																																						dbGAP											0													108.0	103.0	105.0					4																	104115811		2202	4295	6497	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.508G>A	4.37:g.104115811C>T	ENSP00000265148:p.Glu170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E170K	ENST00000265148.3	37	c.508	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.330393	0.95733	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705;ENST00000514974	T;T;T;T	0.72394	4.14;-0.65;4.14;2.31	4.9	4.9	0.64082	Kinesin, motor domain (4);	.	.	.	.	T	0.79482	0.4453	L	0.43923	1.385	0.80722	D	1	P;D	0.63046	0.815;0.992	B;D	0.67725	0.412;0.953	T	0.81651	-0.0836	9	0.72032	D	0.01	.	18.4716	0.90777	0.0:1.0:0.0:0.0	.	170;170	Q02224-3;Q02224	.;CENPE_HUMAN	K	170;170;170;170;130	ENSP00000265148:E170K;ENSP00000369365:E170K;ENSP00000423981:E170K;ENSP00000426023:E130K	ENSP00000265148:E170K	E	-	1	0	CENPE	104335260	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.014000	0.76380	2.410000	0.81850	0.585000	0.79938	GAA	CENPE	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138778		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		293	0.00	0	C			104115811	104115811	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	179	21.83	50	SNP	1.000	T
CEP170	9859	genome.wustl.edu	37	1	243329334	243329334	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:243329334C>T	ENST00000366542.1	-	13	1979	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	CEP170_ENST00000366543.1_Missense_Mutation_p.R545Q|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.R545Q|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	643						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGGAAGAGTTCGTCTCCTTCT	0.458																																						dbGAP											0													31.0	27.0	28.0					1																	243329334		1792	4034	5826	-	-	-	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1928G>A	1.37:g.243329334C>T	ENSP00000355500:p.Arg643Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.R643Q	ENST00000366542.1	37	c.1928	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440952|4.440952	0.83993|0.83993	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.58210	.|0.4;0.35;0.36	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.054600	.|0.64402	.|D	.|0.000001	T|T	0.73009|0.73009	0.3532|0.3532	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.89917	.|1.0;0.604;0.604;1.0	.|D;B;B;D	.|0.91635	.|0.999;0.147;0.103;0.996	T|T	0.75354|0.75354	-0.3347|-0.3347	5|10	.|0.54805	.|T	.|0.06	-7.5641|-7.5641	17.5566|17.5566	0.87892|0.87892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|606;545;545;643	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	K|Q	607|643;545;545	.|ENSP00000355500:R643Q;ENSP00000355502:R545Q;ENSP00000355501:R545Q	.|ENSP00000355500:R643Q	E|R	-|-	1|2	0|0	CEP170|CEP170	241395957|241395957	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.215000|7.215000	0.77966|0.77966	2.389000|2.389000	0.81357|0.81357	0.484000|0.484000	0.47621|0.47621	GAA|CGA	CEP170	-	NULL	ENSG00000143702		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	168	0.00	0	C	NM_014812		243329334	243329334	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	missense	86	31.75	40	SNP	1.000	T
DCAF4L2	138009	genome.wustl.edu	37	8	88885659	88885659	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr8:88885659G>T	ENST00000319675.3	-	1	637	c.541C>A	c.(541-543)Cag>Aag	p.Q181K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	181										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCAGGGATCTGGAAACTGCAA	0.572																																						dbGAP											0													138.0	126.0	130.0					8																	88885659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.541C>A	8.37:g.88885659G>T	ENSP00000316496:p.Gln181Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q181K	ENST00000319675.3	37	c.541	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	0.515	-0.864591	0.02590	.	.	ENSG00000176566	ENST00000319675	T	0.70045	-0.45	1.39	0.145	0.14829	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.096084	0.64402	D	0.000001	T	0.34542	0.0901	N	0.12887	0.27	0.19775	N	0.999952	B	0.06786	0.001	B	0.11329	0.006	T	0.23190	-1.0195	10	0.02654	T	1	.	4.0314	0.09711	0.0:0.0:0.5912:0.4088	.	181	Q8NA75	DC4L2_HUMAN	K	181	ENSP00000316496:Q181K	ENSP00000316496:Q181K	Q	-	1	0	DCAF4L2	88954775	1.000000	0.71417	0.053000	0.19242	0.032000	0.12392	2.745000	0.47459	0.750000	0.32877	0.467000	0.42956	CAG	DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	158	0.63	1	G	NM_152418		88885659	88885659	-1	no_errors	ENST00000319675	ensembl	human	known	69_37n	missense	167	24.09	53	SNP	1.000	T
DOCK11	139818	genome.wustl.edu	37	X	117699984	117699984	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chrX:117699984G>A	ENST00000276202.7	+	8	773	c.710G>A	c.(709-711)cGt>cAt	p.R237H	DOCK11_ENST00000276204.6_Missense_Mutation_p.R237H	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	237	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R237H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAATGCGCCGTCATGCTTTT	0.338																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											131.0	130.0	131.0					X																	117699984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.710G>A	X.37:g.117699984G>A	ENSP00000276202:p.Arg237His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R237H	ENST00000276202.7	37	c.710	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757928	0.89843	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75704	-0.96;-0.96	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87496	0.2430	10	0.62326	D	0.03	-8.7901	18.041	0.89319	0.0:0.0:1.0:0.0	.	237;237	A6NIW2;Q5JSL3	.;DOC11_HUMAN	H	237	ENSP00000276204:R237H;ENSP00000276202:R237H	ENSP00000276202:R237H	R	+	2	0	DOCK11	117584012	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.632000	0.83247	2.296000	0.77279	0.422000	0.28245	CGT	DOCK11	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000147251		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	180	0.55	1	G	NM_144658		117699984	117699984	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	100	11.50	13	SNP	1.000	A
DOCK9	23348	genome.wustl.edu	37	13	99575591	99575591	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr13:99575591C>T	ENST00000376460.1	-	5	531	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	DOCK9_ENST00000448493.2_Missense_Mutation_p.V163I|DOCK9_ENST00000442173.1_Missense_Mutation_p.V151I|DOCK9_ENST00000339416.2_Missense_Mutation_p.V152I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	152					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTTCATAGACATGAACTGGA	0.368																																						dbGAP											0													148.0	144.0	145.0					13																	99575591		1887	4110	5997	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.451G>A	13.37:g.99575591C>T	ENSP00000365643:p.Val151Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V152I	ENST00000376460.1	37	c.454	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684797	0.47991	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173;ENST00000427887	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.48	5.48	0.80851	.	0.124403	0.53938	D	0.000054	T	0.43919	0.1269	M	0.62266	1.93	0.42735	D	0.993723	B;B;B;B	0.15473	0.003;0.013;0.002;0.005	B;B;B;B	0.24394	0.05;0.042;0.012;0.053	T	0.35151	-0.9800	9	.	.	.	.	9.152	0.36969	0.1571:0.766:0.0:0.0769	.	152;151;151;152	A6H8Z6;E9PFM9;Q9BZ29-5;Q9BZ29	.;.;.;DOCK9_HUMAN	I	151;152;152;152;151;152;163;151;152	ENSP00000365643:V151I;ENSP00000341086:V152I;ENSP00000401958:V163I;ENSP00000406883:V151I;ENSP00000413781:V152I	.	V	-	1	0	DOCK9	98373592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.687000	0.54692	2.547000	0.85894	0.655000	0.94253	GTC	DOCK9	-	pfam_DUF3398	ENSG00000088387		0.368	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	146	0.00	0	C	NM_015296		99575591	99575591	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	139	22.35	40	SNP	1.000	T
DPYSL5	56896	genome.wustl.edu	37	2	27169788	27169788	+	Silent	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr2:27169788C>T	ENST00000288699.6	+	13	1778	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	DPYSL5_ENST00000401478.1_Silent_p.I540I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	540					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCTCAGATCGATGACCATG	0.582																																						dbGAP											0													107.0	83.0	91.0					2																	27169788		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1620C>T	2.37:g.27169788C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I540	ENST00000288699.6	37	c.1620	CCDS1730.1	2																																																																																			DPYSL5	-	NULL	ENSG00000157851		0.582	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	84	0.00	0	C	NM_020134		27169788	27169788	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	0.987	T
F5	2153	genome.wustl.edu	37	1	169541460	169541460	+	Splice_Site	SNP	T	T	G			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:169541460T>G	ENST00000367797.3	-	3	573	c.372A>C	c.(370-372)gaA>gaC	p.E124D	F5_ENST00000367796.3_Splice_Site_p.E124D|F5_ENST00000546081.1_5'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	124	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTATCTTACCTTCTGATAATT	0.333																																						dbGAP											0													49.0	51.0	50.0					1																	169541460		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.373+1A>C	1.37:g.169541460T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E124D	ENST00000367797.3	37	c.372	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354054	0.82243	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.95918	-3.85;-3.85	5.59	5.59	0.84812	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.051211	0.85682	N	0.000000	D	0.94515	0.8234	N	0.25094	0.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96218	0.9158	10	0.87932	D	0	-14.066	13.7387	0.62833	0.0:0.0:0.0:1.0	.	124	P12259	FA5_HUMAN	D	124	ENSP00000356771:E124D;ENSP00000356770:E124D	ENSP00000356770:E124D	E	-	3	2	F5	167808084	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.373000	0.52394	2.120000	0.65058	0.460000	0.39030	GAA	F5	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000198734		0.333	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	154	0.00	0	T	NM_000130	Missense_Mutation	169541460	169541460	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	151	13.71	24	SNP	1.000	G
FAM131A	131408	genome.wustl.edu	37	3	184055444	184055444	+	5'Flank	SNP	A	A	G			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr3:184055444A>G	ENST00000310585.4	+	0	0				FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000497070.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_5'Flank|FAM131A_ENST00000383847.2_Missense_Mutation_p.K9R			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCTGGGCAAAATGTTTCTG	0.522																																						dbGAP											0													131.0	116.0	120.0					3																	184055444		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184055444A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.K9R	ENST00000310585.4	37	c.26		3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118810	0.77323	.	.	ENSG00000175182	ENST00000383847	T	0.25250	1.81	4.87	3.48	0.39840	.	.	.	.	.	T	0.22282	0.0537	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.04400	-1.0954	7	0.87932	D	0	.	7.0534	0.25085	0.8782:0.0:0.1218:0.0	.	.	.	.	R	9	ENSP00000373360:K9R	ENSP00000373360:K9R	K	+	2	0	FAM131A	185538138	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.254000	0.43214	1.810000	0.52873	0.402000	0.26972	AAA	FAM131A	-	NULL	ENSG00000175182		0.522	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	156	0.00	0	A	NM_144635		184055444	184055444	+1	no_errors	ENST00000383847	ensembl	human	known	69_37n	missense	133	13.64	21	SNP	1.000	G
FAM98C	147965	genome.wustl.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						dbGAP											0										414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				-	-	-	SO:0001651	inframe_deletion	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW3|Q66K45	In_Frame_Del	DEL	pfam_Uncharacterised_FAM98	p.K347in_frame_del	ENST00000252530.5	37	c.1030_1032	CCDS42562.1	19																																																																																			FAM98C	-	NULL	ENSG00000130244		0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	50	0.00	0	AAG	NM_174905		38899502	38899504	+1	no_errors	ENST00000252530	ensembl	human	known	69_37n	in_frame_del	27	10.00	3	DEL	0.830:0.873:0.987	-
GPSM1	26086	genome.wustl.edu	37	9	139231983	139231983	+	Silent	SNP	T	T	C			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr9:139231983T>C	ENST00000440944.1	+	5	884	c.664T>C	c.(664-666)Ttg>Ctg	p.L222L	GPSM1_ENST00000392945.3_Silent_p.L222L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	222	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCACTATTTGTTGGGGAACTT	0.682																																						dbGAP											0													37.0	34.0	35.0					9																	139231983		2152	4262	6414	-	-	-	SO:0001819	synonymous_variant	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.664T>C	9.37:g.139231983T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L222	ENST00000440944.1	37	c.664	CCDS48055.1	9																																																																																			GPSM1	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000160360		0.682	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		37	0.00	0	T	NM_015597		139231983	139231983	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	silent	23	25.71	9	SNP	1.000	C
GRPEL2	134266	genome.wustl.edu	37	5	148730599	148730599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr5:148730599delC	ENST00000329271.3	+	4	542	c.432delC	c.(430-432)ttcfs	p.F144fs	GRPEL2_ENST00000416916.2_Frame_Shift_Del_p.S117fs|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	144					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGGTCTTCCGAGGGTTGT	0.488																																						dbGAP											0													103.0	104.0	104.0					5																	148730599		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.432delC	5.37:g.148730599delC	ENSP00000329558:p.Phe144fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFA6|Q49AJ6	Frame_Shift_Del	DEL	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.R145fs	ENST00000329271.3	37	c.432	CCDS4295.1	5																																																																																			GRPEL2	-	pfam_GrpE	ENSG00000164284		0.488	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1	70	0.00	0	C	NM_152407		148730599	148730599	+1	no_errors	ENST00000329271	ensembl	human	known	69_37n	frame_shift_del	61	18.67	14	DEL	0.999	-
HAAO	23498	genome.wustl.edu	37	2	42997323	42997323	+	Silent	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr2:42997323G>A	ENST00000294973.6	-	6	499	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CAGAGCTGAAGAACCTGCAAG	0.592																																						dbGAP											0													56.0	53.0	54.0					2																	42997323		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.444C>T	2.37:g.42997323G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	p.F148	ENST00000294973.6	37	c.444	CCDS33187.1	2																																																																																			HAAO	-	pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	ENSG00000162882		0.592	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAAO	HGNC	protein_coding	OTTHUMT00000325948.2	63	0.00	0	G			42997323	42997323	-1	no_errors	ENST00000294973	ensembl	human	known	69_37n	silent	48	36.84	28	SNP	1.000	A
HAUS7	55559	genome.wustl.edu	37	X	152722094	152722094	+	Silent	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chrX:152722094G>A	ENST00000370211.4	-	6	535	c.492C>T	c.(490-492)ttC>ttT	p.F164F	TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000421080.2_Silent_p.F25F|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.F164F|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	164					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGTGTCCTCGAAGTGCTCCA	0.662																																						dbGAP											0													57.0	37.0	44.0					X																	152722094		2188	4274	6462	-	-	-	SO:0001819	synonymous_variant	0			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.492C>T	X.37:g.152722094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Silent	SNP	NULL	p.F164	ENST00000370211.4	37	c.492	CCDS35438.1	X																																																																																			HAUS7	-	NULL	ENSG00000213397		0.662	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060963.2	40	0.00	0	G	NM_017518		152722094	152722094	-1	no_errors	ENST00000370212	ensembl	human	known	69_37n	silent	23	20.00	6	SNP	0.000	A
IRX4	50805	genome.wustl.edu	37	5	1878883	1878884	+	In_Frame_Ins	INS	-	-	TTT	rs374496663		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr5:1878883_1878884insTTT	ENST00000505790.1	-	6	1215_1216	c.759_760insAAA	c.(757-762)aaggag>aagAAAgag	p.253_254insK	IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_In_Frame_Ins_p.253_254insK|IRX4_ENST00000513692.1_In_Frame_Ins_p.253_254insK	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	253					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		AGCTCCAGCTCCTTCTCCTCTT	0.634																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.759_760insAAA	5.37:g.1878883_1878884insTTT	ENSP00000423161:p.Lys253_Lys253dup	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.253in_frame_insK	ENST00000505790.1	37	c.760_759	CCDS3867.1	5																																																																																			IRX4	-	NULL	ENSG00000113430		0.634	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	25	0.00	0	-	NM_016358		1878883	1878884	-1	no_errors	ENST00000231357	ensembl	human	known	69_37n	in_frame_ins	16	23.81	5	INS	1.000:1.000	TTT
KDM4E	390245	genome.wustl.edu	37	11	94759830	94759830	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr11:94759830G>T	ENST00000450979.2	+	1	1409	c.1109G>T	c.(1108-1110)gGc>gTc	p.G370V		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	370					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GCTGCTCTGGGCCTGAGGCTT	0.542																																						dbGAP											0													66.0	65.0	65.0					11																	94759830		692	1591	2283	-	-	-	SO:0001583	missense	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1109G>T	11.37:g.94759830G>T	ENSP00000397239:p.Gly370Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.G370V	ENST00000450979.2	37	c.1109	CCDS44713.1	11	.	.	.	.	.	.	.	.	.	.	g	15.62	2.887801	0.52014	.	.	ENSG00000235268	ENST00000450979	T	0.33438	1.41	1.72	1.72	0.24424	.	.	.	.	.	T	0.41003	0.1140	L	0.43923	1.385	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.14420	-1.0473	9	0.30854	T	0.27	-3.7091	6.8758	0.24147	0.0:0.0:1.0:0.0	.	370	B2RXH2	KD4DL_HUMAN	V	370	ENSP00000397239:G370V	ENSP00000397239:G370V	G	+	2	0	KDM4DL	94399478	0.181000	0.23161	0.011000	0.14972	0.760000	0.43138	1.747000	0.38298	1.280000	0.44463	0.305000	0.20034	GGC	KDM4E	-	NULL	ENSG00000235268		0.542	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	56	0.00	0	G	NM_001161630		94759830	94759830	+1	no_errors	ENST00000450979	ensembl	human	known	69_37n	missense	49	25.37	17	SNP	0.032	T
KIAA1211L	343990	genome.wustl.edu	37	2	99443462	99443462	+	Silent	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr2:99443462C>T	ENST00000397899.2	-	6	1042	c.711G>A	c.(709-711)tcG>tcA	p.S237S	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	237																	TCATCTTACTCGACCGCTGGT	0.602																																						dbGAP											0													89.0	88.0	89.0					2																	99443462		2006	4176	6182	-	-	-	SO:0001819	synonymous_variant	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.711G>A	2.37:g.99443462C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S237	ENST00000397899.2	37	c.711	CCDS42720.1	2																																																																																			KIAA1211L	-	NULL	ENSG00000196872		0.602	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	60	0.00	0	C	NM_207362		99443462	99443462	-1	no_errors	ENST00000397899	ensembl	human	known	69_37n	silent	52	14.75	9	SNP	0.506	T
KLHL23	151230	genome.wustl.edu	37	2	170592266	170592266	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr2:170592266A>C	ENST00000392647.2	+	2	986	c.742A>C	c.(742-744)Acc>Ccc	p.T248P	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.T248P	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	248										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTGCCTGCTCACCGAAAATAA	0.403																																						dbGAP											0													68.0	71.0	70.0					2																	170592266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.742A>C	2.37:g.170592266A>C	ENSP00000376419:p.Thr248Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T248P	ENST00000392647.2	37	c.742	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246099	0.39697	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.70516	-0.49;-0.49;-0.47	5.81	5.81	0.92471	.	0.227973	0.44285	D	0.000463	T	0.53222	0.1783	N	0.08118	0	0.33011	D	0.527531	P	0.37955	0.612	B	0.36335	0.222	T	0.66693	-0.5859	9	0.46703	T	0.11	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	248	Q8NBE8	KLH23_HUMAN	P	248;248;69	ENSP00000272797:T248P;ENSP00000376419:T248P;ENSP00000394732:T69P	ENSP00000272797:T248P	T	+	1	0	KLHL23	170300512	0.827000	0.29292	0.256000	0.24389	0.624000	0.37722	4.430000	0.59907	2.210000	0.71456	0.533000	0.62120	ACC	KLHL23	-	pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.403	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	74	0.00	0	A	NM_144711		170592266	170592266	+1	no_errors	ENST00000272797	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	0.595	C
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	229	0.00	0	C	NM_033360		25398284	25398284	-1	no_errors	ENST00000256078	ensembl	human	known	69_37n	missense	159	37.65	96	SNP	1.000	A
MRPL45	84311	genome.wustl.edu	37	17	36453165	36453165	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr17:36453165C>T	ENST00000312513.5	+	1	177	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	6						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCCCCCATACCTCAAGGGTT	0.597																																						dbGAP											0													108.0	104.0	105.0					17																	36453165		692	1591	2283	-	-	-	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.16C>T	17.37:g.36453165C>T	ENSP00000308901:p.Pro6Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45	p.P6S	ENST00000312513.5	37	c.16	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776821	0.16120	.	.	ENSG00000174100	ENST00000312513	T	0.27720	1.65	4.28	3.28	0.37604	.	0.564634	0.18875	N	0.128728	T	0.24890	0.0604	L	0.54323	1.7	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.17837	-1.0356	10	0.15499	T	0.54	-0.0185	9.3606	0.38192	0.2137:0.7863:0.0:0.0	.	6	Q9BRJ2	RM45_HUMAN	S	6	ENSP00000308901:P6S	ENSP00000308901:P6S	P	+	1	0	MRPL45	33706684	0.000000	0.05858	0.007000	0.13788	0.026000	0.11368	-0.424000	0.07025	1.099000	0.41499	0.511000	0.50034	CCT	MRPL45	-	NULL	ENSG00000174100		0.597	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3	309	0.00	0	C	NM_032351		36453165	36453165	+1	no_errors	ENST00000312513	ensembl	human	known	69_37n	missense	209	10.68	25	SNP	0.010	T
MYH7	4625	genome.wustl.edu	37	14	23894523	23894523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr14:23894523delG	ENST00000355349.3	-	21	2553	c.2391delC	c.(2389-2391)gccfs	p.A797fs		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	797	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.		A -> T (in CMH1; dbSNP:rs3218716). {ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:7581410}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCATTCTGGCGAGCACAC	0.597																																						dbGAP											0													98.0	81.0	87.0					14																	23894523		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2391delC	14.37:g.23894523delG	ENSP00000347507:p.Ala797fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R798fs	ENST00000355349.3	37	c.2391	CCDS9601.1	14																																																																																			MYH7	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000092054		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	131	0.00	0	G	NM_000257		23894523	23894523	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	frame_shift_del	65	32.29	31	DEL	0.693	-
MYO3A	53904	genome.wustl.edu	37	10	26243835	26243835	+	Silent	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr10:26243835C>T	ENST00000265944.5	+	4	367	c.201C>T	c.(199-201)aaC>aaT	p.N67N	MYO3A_ENST00000376301.1_Silent_p.N67N|MYO3A_ENST00000543632.1_Silent_p.N67N|MYO3A_ENST00000376302.1_Silent_p.N67N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAATATAACATCTTAAAAG	0.343																																						dbGAP											0													123.0	125.0	125.0					10																	26243835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.201C>T	10.37:g.26243835C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.N67	ENST00000265944.5	37	c.201	CCDS7148.1	10																																																																																			MYO3A	-	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	ENSG00000095777		0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	147	0.00	0	C	NM_017433		26243835	26243835	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	silent	153	12.50	22	SNP	1.000	T
NOP2	4839	genome.wustl.edu	37	12	6670928	6670928	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:6670928C>T	ENST00000322166.5	-	11	1230	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.G366E|NOP2_ENST00000537442.1_Missense_Mutation_p.G370E|NOP2_ENST00000545200.1_Missense_Mutation_p.G366E|NOP2_ENST00000399466.2_Missense_Mutation_p.G366E|NOP2_ENST00000382421.3_Missense_Mutation_p.G403E	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	370					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGGAGGCTCCCTGCAGCAT	0.607																																						dbGAP											0													40.0	45.0	43.0					12																	6670928		2027	4176	6203	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1109G>A	12.37:g.6670928C>T	ENSP00000313272:p.Gly370Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.G370E	ENST00000322166.5	37	c.1109	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.209111	0.95069	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.20530	0.585	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.917	T	0.26643	-1.0097	10	0.87932	D	0	-17.1739	19.2531	0.93933	0.0:1.0:0.0:0.0	.	366;366	Q05BA7;P46087-2	.;.	E	370;403;366;366;370;366;246	ENSP00000444437:G370E;ENSP00000371858:G403E;ENSP00000439422:G366E;ENSP00000382392:G366E;ENSP00000313272:G370E;ENSP00000443150:G366E;ENSP00000440754:G246E	ENSP00000313272:G370E	G	-	2	0	NOP2	6541189	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.788000	0.85771	2.536000	0.85505	0.561000	0.74099	GGA	NOP2	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT,tigrfam_Nop2p	ENSG00000111641		0.607	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	80	0.00	0	C	NM_006170		6670928	6670928	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	T
NR4A1	3164	genome.wustl.edu	37	12	52451283	52451283	+	Silent	SNP	C	C	T	rs545590997		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:52451283C>T	ENST00000243050.1	+	7	1823	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	NR4A1_ENST00000545748.1_Silent_p.F557F|NR4A1_ENST00000394825.1_Silent_p.F503F|NR4A1_ENST00000394824.2_Silent_p.F503F|NR4A1_ENST00000360284.3_Silent_p.F516F|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Silent_p.F516F	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	503					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCCCTGCCTTCGCCTGCCTCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18874	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													90.0	87.0	88.0					12																	52451283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1509C>T	12.37:g.52451283C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	NULL	p.S105L	ENST00000243050.1	37	c.314	CCDS8818.1	12																																																																																			NR4A1	-	NULL	ENSG00000123358		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	137	0.00	0	C			52451283	52451283	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000550582	ensembl	human	putative	69_37n	missense	66	31.63	31	SNP	0.991	T
SLC9A3R2	9351	genome.wustl.edu	37	16	2090176	2090176	+	IGR	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr16:2090176G>A	ENST00000424542.2	+	0	2194				NTHL1_ENST00000562951.1_5'UTR|NTHL1_ENST00000219066.1_Missense_Mutation_p.S258F	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						CTCCTCTGGGGACTTGGTTGC	0.637																																					Ovarian(69;105 1552 17724 23473)	dbGAP											0													176.0	164.0	168.0					16																	2090176		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0			AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2090176G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.S258F	ENST00000424542.2	37	c.773	CCDS45382.1	16	.	.	.	.	.	.	.	.	.	.	g	7.445	0.641481	0.14451	.	.	ENSG00000065057	ENST00000219066	D	0.87029	-2.2	4.45	1.04	0.20106	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.836658	0.10793	N	0.633556	D	0.85656	0.5747	L	0.55743	1.74	0.26323	N	0.977639	P;P	0.41232	0.743;0.743	P;P	0.45753	0.492;0.492	T	0.76919	-0.2781	10	0.72032	D	0.01	-13.148	8.2434	0.31673	0.0:0.343:0.4452:0.2118	.	258;258	E5KTI5;P78549	.;NTHL1_HUMAN	F	258	ENSP00000219066:S258F	ENSP00000219066:S258F	S	-	2	0	NTHL1	2030177	0.855000	0.29742	0.128000	0.21923	0.001000	0.01503	1.016000	0.29976	0.847000	0.35167	-0.714000	0.03626	TCC	NTHL1	-	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	ENSG00000065057		0.637	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000434448.1	87	0.00	0	G			2090176	2090176	-1	no_errors	ENST00000219066	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.869	A
OSMR	9180	genome.wustl.edu	37	5	38904586	38904586	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr5:38904586C>A	ENST00000274276.3	+	9	1668	c.1266C>A	c.(1264-1266)aaC>aaA	p.N422K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTGGTCAGAACTTCACCACAC	0.473																																						dbGAP											0													129.0	110.0	116.0					5																	38904586		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1266C>A	5.37:g.38904586C>A	ENSP00000274276:p.Asn422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N422K	ENST00000274276.3	37	c.1266	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377462	0.11466	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.46063	1.14;0.88	5.7	-6.4	0.01944	Fibronectin, type III (3);	1.803160	0.02259	N	0.067422	T	0.20414	0.0491	N	0.17872	0.535	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.26780	-1.0093	10	0.05959	T	0.93	.	4.5167	0.11939	0.4108:0.1945:0.3254:0.0693	.	422	Q99650	OSMR_HUMAN	K	422;29	ENSP00000274276:N422K;ENSP00000423913:N29K	ENSP00000274276:N422K	N	+	3	2	OSMR	38940343	0.000000	0.05858	0.000000	0.03702	0.345000	0.29048	-0.696000	0.05104	-1.080000	0.03109	0.650000	0.86243	AAC	OSMR	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000145623		0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	100	0.00	0	C	NM_003999		38904586	38904586	+1	no_errors	ENST00000274276	ensembl	human	known	69_37n	missense	157	13.74	25	SNP	0.000	A
PARP15	165631	genome.wustl.edu	37	3	122345796	122345796	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr3:122345796C>A	ENST00000464300.2	+	9	1420	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.L218M|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	452	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TCAACCTGAGCTGCTAAATAT	0.368																																						dbGAP											0													96.0	92.0	93.0					3																	122345796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1354C>A	3.37:g.122345796C>A	ENSP00000417214:p.Leu452Met	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L452M	ENST00000464300.2	37	c.1354	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650965	0.14516	.	.	ENSG00000173200	ENST00000464300;ENST00000542823;ENST00000310366	T;T	0.22336	1.96;1.96	3.91	-2.94	0.05581	Appr-1-p processing (1);	.	.	.	.	T	0.10766	0.0263	N	0.05534	-0.03	0.44024	D	0.996746	P;P;P	0.47962	0.668;0.835;0.903	B;P;P	0.50934	0.417;0.654;0.632	T	0.45512	-0.9256	9	0.34782	T	0.22	.	0.4969	0.00573	0.2542:0.2862:0.1251:0.3345	.	218;199;430	Q460N3-2;F5H8I1;Q460N3	.;.;PAR15_HUMAN	M	452;199;218	ENSP00000417214:L452M;ENSP00000308436:L218M	ENSP00000308436:L218M	L	+	1	2	PARP15	123828486	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-1.250000	0.02885	-0.615000	0.05679	0.563000	0.77884	CTG	PARP15	-	pfscan_A1pp	ENSG00000173200		0.368	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	226	0.00	0	C	NM_152615		122345796	122345796	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	missense	124	34.39	65	SNP	0.008	A
PCDHB12	56124	genome.wustl.edu	37	5	140589610	140589610	+	Missense_Mutation	SNP	C	C	G	rs370806858		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr5:140589610C>G	ENST00000239450.2	+	1	1320	c.1131C>G	c.(1129-1131)gaC>gaG	p.D377E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D40E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCTGGGGACAACGGAAAGA	0.448																																						dbGAP											0													72.0	67.0	69.0					5																	140589610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1131C>G	5.37:g.140589610C>G	ENSP00000239450:p.Asp377Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D377E	ENST00000239450.2	37	c.1131	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.879415	0.00537	.	.	ENSG00000120328	ENST00000541609;ENST00000239450	T;T	0.52295	0.67;0.67	4.06	-4.19	0.03835	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20088	0.0483	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.19666	0.026	T	0.28964	-1.0027	9	0.07030	T	0.85	.	4.2012	0.10467	0.4118:0.1957:0.32:0.0724	.	377	Q9Y5F1	PCDBC_HUMAN	E	40;377	ENSP00000440199:D40E;ENSP00000239450:D377E	ENSP00000239450:D377E	D	+	3	2	PCDHB12	140569794	0.000000	0.05858	0.099000	0.21106	0.253000	0.25986	-4.196000	0.00276	-1.334000	0.02244	-0.500000	0.04577	GAC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.448	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	112	0.00	0	C	NM_018932		140589610	140589610	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	missense	68	23.60	21	SNP	0.049	G
PCSK7	9159	genome.wustl.edu	37	11	117089867	117089867	+	Missense_Mutation	SNP	C	C	A	rs373916308		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr11:117089867C>A	ENST00000320934.3	-	11	1967	c.1337G>T	c.(1336-1338)cGt>cTt	p.R446L	PCSK7_ENST00000540028.1_Missense_Mutation_p.R87L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	446	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCACTCTGCACGGCGATCCTC	0.567			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													61.0	51.0	54.0					11																	117089867		2201	4296	6497	-	-	-	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1337G>T	11.37:g.117089867C>A	ENSP00000325917:p.Arg446Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R446L	ENST00000320934.3	37	c.1337	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766917	0.31320	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.81163	-1.46;-1.46	5.2	-0.189	0.13260	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.077770	0.07015	N	0.825751	T	0.64638	0.2616	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.25291	0.059	T	0.54022	-0.8355	10	0.48119	T	0.1	-0.1564	8.944	0.35747	0.0:0.3746:0.0:0.6254	.	446	Q16549	PCSK7_HUMAN	L	446;87;446	ENSP00000325917:R446L;ENSP00000441944:R87L	ENSP00000325917:R446L	R	-	2	0	PCSK7	116595077	0.000000	0.05858	0.581000	0.28614	0.870000	0.49936	-0.578000	0.05841	-0.065000	0.13021	0.591000	0.81541	CGT	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000160613		0.567	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	46	0.00	0	C	NM_004716		117089867	117089867	-1	no_errors	ENST00000320934	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.006	A
PDCD11	22984	genome.wustl.edu	37	10	105179384	105179384	+	Silent	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr10:105179384C>T	ENST00000369797.3	+	16	2290	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	732	S1 motif 8. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAATGCTGCTCATTGGTTTTG	0.498																																						dbGAP											0													162.0	143.0	150.0					10																	105179384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2196C>T	10.37:g.105179384C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.L732	ENST00000369797.3	37	c.2196	CCDS31276.1	10																																																																																			PDCD11	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.498	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	144	0.00	0	C			105179384	105179384	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	silent	160	17.10	33	SNP	0.971	T
PGBD5	79605	genome.wustl.edu	37	1	230503869	230503869	+	Intron	SNP	G	G	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:230503869G>T	ENST00000525115.1	-	1	148				PGBD5_ENST00000321327.2_Missense_Mutation_p.S49Y|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACCACACAGATGGTGGTGG	0.502																																						dbGAP											0													104.0	97.0	99.0					1																	230503869		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.124+9374C>A	1.37:g.230503869G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.S49Y	ENST00000525115.1	37	c.146		1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661380	0.29515	.	.	ENSG00000177614	ENST00000321327	T	0.22743	1.94	1.94	0.921	0.19403	.	6.898060	0.01208	U	0.007770	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	7	0.87932	D	0	.	3.9981	0.09568	0.2461:0.0:0.7539:0.0	.	.	.	.	Y	49	ENSP00000322530:S49Y	ENSP00000322530:S49Y	S	-	2	0	PGBD5	228570492	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.501000	0.22578	0.314000	0.23086	0.561000	0.74099	TCT	PGBD5	-	NULL	ENSG00000177614		0.502	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	261	0.00	0	G	NM_024554		230503869	230503869	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	224	35.63	124	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	19	Substitution - Missense(14)|Deletion - In frame(5)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)											87.0	82.0	84.0					3																	178916936		1822	4071	5893	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R108H	ENST00000263967.3	37	c.323	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	79	0.00	0	G			178916936	178916936	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	84	21.50	23	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	142	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	90	33.33	45	SNP	1.000	G
MCOLN1	57192	genome.wustl.edu	37	19	7601348	7601348	+	IGR	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr19:7601348C>T	ENST00000264079.6	+	0	2082				PNPLA6_ENST00000414982.3_Missense_Mutation_p.T119I|CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000600737.1_Missense_Mutation_p.T110I|PNPLA6_ENST00000221249.6_Missense_Mutation_p.T71I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.T71I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.T71I	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACAATCCACCTCCTCCCTC	0.547																																						dbGAP											0													101.0	86.0	91.0					19																	7601348		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1			19.37:g.7601348C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T119I	ENST00000264079.6	37	c.356	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111556	0.77210	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04706	3.59;3.57;3.57;3.59	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.29908	0.895	0.58432	D	0.999999	P;P;P;P	0.45902	0.791;0.868;0.868;0.868	B;B;P;P	0.48873	0.389;0.408;0.593;0.491	T	0.17349	-1.0372	10	0.56958	D	0.05	-19.1576	14.2993	0.66336	0.0:1.0:0.0:0.0	.	110;71;110;71	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	I	71;71;119;8;71	ENSP00000221249:T71I;ENSP00000443323:T71I;ENSP00000407509:T119I;ENSP00000394348:T71I	ENSP00000221249:T71I	T	+	2	0	PNPLA6	7507348	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.070000	0.76763	2.442000	0.82660	0.561000	0.74099	ACC	PNPLA6	-	NULL	ENSG00000032444		0.547	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000458974.2	163	0.00	0	C	NM_020533		7601348	7601348	+1	no_errors	ENST00000414982	ensembl	human	known	69_37n	missense	95	37.09	56	SNP	1.000	T
QSOX1	5768	genome.wustl.edu	37	1	180151338	180151338	+	Silent	SNP	C	C	T	rs563040071		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:180151338C>T	ENST00000367602.3	+	6	710	c.636C>T	c.(634-636)ggC>ggT	p.G212G	QSOX1_ENST00000367600.5_Silent_p.G212G			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	212					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCACAAAGGCGTGGCGGTGC	0.637																																						dbGAP											0													169.0	137.0	148.0					1																	180151338		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.636C>T	1.37:g.180151338C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.G212	ENST00000367602.3	37	c.636	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.637	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	98	0.00	0	C	NM_002826		180151338	180151338	+1	no_errors	ENST00000367602	ensembl	human	known	69_37n	silent	71	22.34	21	SNP	0.019	T
RCBTB1	55213	genome.wustl.edu	37	13	50134175	50134175	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr13:50134175C>A	ENST00000378302.2	-	5	583	c.323G>T	c.(322-324)gGg>gTg	p.G108V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.G108V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.G108V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	108					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CGTCCCATTCCCAAGCTGGCT	0.473																																						dbGAP											0													224.0	219.0	221.0					13																	50134175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.323G>T	13.37:g.50134175C>A	ENSP00000367552:p.Gly108Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IY29|Q969U9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.G108V	ENST00000378302.2	37	c.323	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353932	0.82243	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.98747	-5.11;-5.11;-5.11	5.08	5.08	0.68730	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98012	1.0366	10	0.87932	D	0	-13.1726	18.4743	0.90786	0.0:1.0:0.0:0.0	.	108	Q8NDN9	RCBT1_HUMAN	V	108	ENSP00000258646:G108V;ENSP00000367552:G108V;ENSP00000443293:G108V	ENSP00000258646:G108V	G	-	2	0	RCBTB1	49032176	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.487000	0.81328	2.361000	0.80049	0.561000	0.74099	GGG	RCBTB1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,prints_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000136144		0.473	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	HGNC	protein_coding	OTTHUMT00000044912.2	133	0.00	0	C	NM_018191		50134175	50134175	-1	no_errors	ENST00000258646	ensembl	human	known	69_37n	missense	117	15.22	21	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38951038	38951038	+	Missense_Mutation	SNP	G	G	A	rs201635585		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr19:38951038G>A	ENST00000359596.3	+	20	2384	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	RYR1_ENST00000360985.3_Missense_Mutation_p.R795H|RYR1_ENST00000355481.4_Missense_Mutation_p.R795H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	795	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	CTTGGTGGCCGCCATGGTGAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18292	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													128.0	113.0	118.0					19																	38951038		2203	4300	6503	-	-	-	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.2384G>A	19.37:g.38951038G>A	ENSP00000352608:p.Arg795His	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.R795H	ENST00000359596.3	37	c.2384	CCDS33011.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.60	3.658231	0.67586	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70869	-0.52;-0.52;-0.52	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000005	D	0.84115	0.5401	M	0.80982	2.52	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.86978	0.2102	10	0.66056	D	0.02	.	15.9098	0.79463	0.0:0.0:1.0:0.0	.	795;795	P21817-2;P21817	.;RYR1_HUMAN	H	795	ENSP00000352608:R795H;ENSP00000347667:R795H;ENSP00000354254:R795H	ENSP00000347667:R795H	R	+	2	0	RYR1	43642878	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.529000	0.98049	2.142000	0.66516	0.299000	0.19835	CGC	RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY	ENSG00000196218		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	96	0.00	0	G			38951038	38951038	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	A
SSX2IP	117178	genome.wustl.edu	37	1	85135415	85135415	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:85135415C>A	ENST00000342203.3	-	4	638	c.375G>T	c.(373-375)ttG>ttT	p.L125F	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.L125F|SSX2IP_ENST00000437941.2_Missense_Mutation_p.L98F|SSX2IP_ENST00000605755.1_Missense_Mutation_p.L98F	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	125					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCCCAGCTTCAAATTCTGTG	0.368																																						dbGAP											0													142.0	142.0	142.0					1																	85135415		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.375G>T	1.37:g.85135415C>A	ENSP00000340279:p.Leu125Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.L125F	ENST00000342203.3	37	c.375	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266135	0.59540	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.50548	0.74;0.75	5.13	5.13	0.70059	.	0.072035	0.56097	D	0.000036	T	0.56381	0.1981	M	0.61703	1.905	0.44323	D	0.997202	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73380	0.966;0.98;0.98	T	0.59445	-0.7453	10	0.56958	D	0.05	1.8694	12.9596	0.58451	0.0:0.9218:0.0:0.0782	.	121;125;98	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	F	125;98;121;125;125	ENSP00000340279:L125F;ENSP00000412781:L98F	ENSP00000340279:L125F	L	-	3	2	SSX2IP	84908003	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.930000	0.28858	2.393000	0.81446	0.655000	0.94253	TTG	SSX2IP	-	pfam_Afadin/alpha-actinin-bd	ENSG00000117155		0.368	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	219	0.00	0	C	NM_014021		85135415	85135415	-1	no_errors	ENST00000342203	ensembl	human	known	69_37n	missense	284	11.80	38	SNP	1.000	A
STXBP1	6812	genome.wustl.edu	37	9	130430385	130430385	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr9:130430385C>T	ENST00000373299.1	+	10	936	c.821C>T	c.(820-822)gCa>gTa	p.A274V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A274V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	274					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ATCGGGGAGGCACGGGTGAAG	0.597																																						dbGAP											0													96.0	84.0	88.0					9																	130430385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.821C>T	9.37:g.130430385C>T	ENSP00000362396:p.Ala274Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A274V	ENST00000373299.1	37	c.821	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000336	0.35320	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.76709	-1.04;-1.04	5.95	5.05	0.67936	.	0.154624	0.64402	D	0.000014	T	0.59649	0.2209	N	0.16166	0.38	0.31981	N	0.605904	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.005	T	0.59968	-0.7354	10	0.33940	T	0.23	-0.0591	7.8723	0.29573	0.1598:0.7596:0.0:0.0807	.	274;274	P61764;P61764-2	STXB1_HUMAN;.	V	228;274;106;274	ENSP00000362399:A274V;ENSP00000362396:A274V	ENSP00000362396:A274V	A	+	2	0	STXBP1	129470206	1.000000	0.71417	0.951000	0.38953	0.386000	0.30323	4.598000	0.61069	1.534000	0.49203	-0.339000	0.08088	GCA	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.597	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	47	0.00	0	C	NM_003165		130430385	130430385	+1	no_errors	ENST00000373299	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.797	T
SUPT6H	6830	genome.wustl.edu	37	17	27001584	27001584	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr17:27001584G>A	ENST00000314616.6	+	4	581	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D100N|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	100	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.			DFDLIEENLG -> LEDDDFLLNE (in Ref. 4; AAH33074). {ECO:0000305}.	chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGAGGATGATGATTTTGACCT	0.478																																						dbGAP											0													174.0	159.0	164.0					17																	27001584		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.298G>A	17.37:g.27001584G>A	ENSP00000319104:p.Asp100Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D100N	ENST00000314616.6	37	c.298	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215158	0.79352	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.85945	2.785	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85907	0.1438	9	0.87932	D	0	-21.4392	20.0471	0.97613	0.0:0.0:1.0:0.0	.	100	Q7KZ85	SPT6H_HUMAN	N	100	.	ENSP00000319104:D100N	D	+	1	0	SUPT6H	24025711	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.426000	0.97469	2.731000	0.93534	0.655000	0.94253	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	258	0.00	0	G	NM_003170		27001584	27001584	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	159	36.25	91	SNP	1.000	A
TAS2R31	259290	genome.wustl.edu	37	12	11183883	11183883	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:11183883C>G	ENST00000390675.2	-	1	123	c.52G>C	c.(52-54)Gtt>Ctt	p.V18L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	18					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TTTCCAATAACAAATAGAACC	0.373																																						dbGAP											0													45.0	46.0	46.0					12																	11183883		1874	4134	6008	-	-	-	SO:0001583	missense	0			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.52G>C	12.37:g.11183883C>G	ENSP00000375093:p.Val18Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V18L	ENST00000390675.2	37	c.52	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628910	0.28978	.	.	ENSG00000256436	ENST00000390675	T	0.34667	1.35	2.45	-3.51	0.04696	.	.	.	.	.	T	0.21550	0.0519	L	0.45422	1.42	0.09310	N	1	B	0.24618	0.107	B	0.16289	0.015	T	0.30765	-0.9967	9	0.52906	T	0.07	.	0.3202	0.00302	0.2013:0.31:0.1989:0.2897	.	18	P59538	T2R31_HUMAN	L	18	ENSP00000375093:V18L	ENSP00000375093:V18L	V	-	1	0	TAS2R31	11075150	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-3.890000	0.00341	-0.425000	0.07371	0.194000	0.17425	GTT	TAS2R31	-	pfam_TAS2_rcpt	ENSG00000256436		0.373	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	76	0.00	0	C	NM_176885		11183883	11183883	-1	no_errors	ENST00000390675	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.001	G
TBX3	6926	genome.wustl.edu	37	12	115118711	115118711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr12:115118711delG	ENST00000257566.3	-	2	1019	c.630delC	c.(628-630)accfs	p.T210fs	TBX3_ENST00000349155.2_Frame_Shift_Del_p.T210fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	210					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T210delT(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAATGTTGTTGGTGAGTTTCA	0.448																																						dbGAP											1	Deletion - In frame(1)	breast(1)											152.0	145.0	147.0					12																	115118711		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.630delC	12.37:g.115118711delG	ENSP00000257566:p.Thr210fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB20|Q9UKF8	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.N211fs	ENST00000257566.3	37	c.630	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.448	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	197	0.00	0	G	NM_016569, NM_005996		115118711	115118711	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_del	133	10.07	15	DEL	1.000	-
TEP1	7011	genome.wustl.edu	37	14	20873630	20873630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr14:20873630C>A	ENST00000262715.5	-	4	890	c.850G>T	c.(850-852)Gag>Tag	p.E284*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E284*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	284	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACTCAGGCTCCAGGAGGGCA	0.517																																						dbGAP											0													132.0	125.0	127.0					14																	20873630		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.850G>T	14.37:g.20873630C>A	ENSP00000262715:p.Glu284*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Nonsense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E284*	ENST00000262715.5	37	c.850	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.611498	0.97705	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	4.84	4.84	0.62591	.	0.060295	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.8985	17.2355	0.86997	0.0:1.0:0.0:0.0	.	.	.	.	X	284	.	ENSP00000262715:E284X	E	-	1	0	TEP1	19943470	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.545000	0.60698	2.679000	0.91253	0.655000	0.94253	GAG	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	296	0.00	0	C	NM_007110		20873630	20873630	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	nonsense	218	31.23	99	SNP	0.999	A
THRAP3	9967	genome.wustl.edu	37	1	36759501	36759502	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr1:36759501_36759502GA>AT	ENST00000354618.5	+	8	2304_2305	c.2080_2081GA>AT	c.(2080-2082)GAt>ATt	p.D694I	THRAP3_ENST00000469141.2_Missense_Mutation_p.D694I|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	694	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGGCTCATGATGAAATGAAA	0.371			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0																																										-	-	-	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	Exception_encountered	1.37:g.36759501_36759502delinsAT	ENSP00000346634:p.Asp694Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.D694N|p.D694V	ENST00000354618.5	37	c.2080|c.2081	CCDS405.1	1																																																																																			THRAP3	-	NULL	ENSG00000054118		0.371	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	197|198	0.00	0	G|A	NM_005119		36759501|36759502	36759501|36759502	+1	no_errors	ENST00000354618	ensembl	human	known	69_37n	missense	140|139	17.16|16.77	29|28	SNP	1.000|0.998	A|T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	77	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	1.000	T
UNC5CL	222643	genome.wustl.edu	37	6	41000851	41000851	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr6:41000851G>A	ENST00000373164.1	-	3	781	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	UNC5CL_ENST00000244565.3_Missense_Mutation_p.R241C|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	241	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGGGCTTCGCGCCCCACAGGT	0.602																																						dbGAP											0													37.0	33.0	34.0					6																	41000851		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.721C>T	6.37:g.41000851G>A	ENSP00000362258:p.Arg241Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGU1	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.R241C	ENST00000373164.1	37	c.721	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	G	5.323	0.244951	0.10077	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16073	2.37;2.37	5.49	4.43	0.53597	.	1.611030	0.03789	N	0.262499	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17561	-1.0365	10	0.56958	D	0.05	-4.7319	10.0753	0.42358	0.1058:0.0:0.8942:0.0	.	241	Q8IV45	UN5CL_HUMAN	C	241	ENSP00000244565:R241C;ENSP00000362258:R241C	ENSP00000244565:R241C	R	-	1	0	UNC5CL	41108829	0.001000	0.12720	0.691000	0.30163	0.028000	0.11728	1.019000	0.30014	2.568000	0.86640	0.655000	0.94253	CGC	UNC5CL	-	NULL	ENSG00000124602		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	37	0.00	0	G	NM_173561		41000851	41000851	-1	no_errors	ENST00000244565	ensembl	human	known	69_37n	missense	17	28.00	7	SNP	0.028	A
WDR54	84058	genome.wustl.edu	37	2	74651009	74651009	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr2:74651009T>C	ENST00000348227.4	+	6	522	c.434T>C	c.(433-435)tTt>tCt	p.F145S	WDR54_ENST00000409791.1_Missense_Mutation_p.F93S|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	145										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTGCTGGTGTTTGACATCCCA	0.572																																						dbGAP											0													131.0	129.0	130.0					2																	74651009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.434T>C	2.37:g.74651009T>C	ENSP00000006526:p.Phe145Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F145S	ENST00000348227.4	37	c.434	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317777	0.81469	.	.	ENSG00000005448	ENST00000409791;ENST00000426787;ENST00000348227	T;T	0.54866	0.55;0.55	5.13	5.13	0.70059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.58101	1.795	0.54753	D	0.999986	D	0.76494	0.999	D	0.68765	0.96	T	0.70107	-0.4963	10	0.87932	D	0	-13.7339	12.471	0.55787	0.0:0.0:0.0:1.0	.	145	Q9H977	WDR54_HUMAN	S	93;127;145	ENSP00000387236:F93S;ENSP00000006526:F145S	ENSP00000006526:F145S	F	+	2	0	WDR54	74504517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.443000	0.73447	1.927000	0.55829	0.528000	0.53228	TTT	WDR54	-	superfamily_WD40_repeat_dom	ENSG00000005448		0.572	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	119	0.00	0	T	NM_032118		74651009	74651009	+1	no_errors	ENST00000348227	ensembl	human	known	69_37n	missense	53	35.37	29	SNP	1.000	C
ZNF812	729648	genome.wustl.edu	37	19	9800857	9800857	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr19:9800857C>T	ENST00000457674.2	-	5	1840	c.1322G>A	c.(1321-1323)gGg>gAg	p.G441E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						GGGTTCCTCCCCAGTGTGAAT	0.393																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1322G>A	19.37:g.9800857C>T	ENSP00000395629:p.Gly441Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G441E	ENST00000457674.2	37	c.1322	CCDS54215.1	19	.	.	.	.	.	.	.	.	.	.	c	12.17	1.857089	0.32791	.	.	ENSG00000224689	ENST00000457674	T	0.07114	3.22	1.27	0.0875	0.14451	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16938	0.0407	L	0.42529	1.33	0.23943	N	0.996391	D	0.76494	0.999	D	0.72338	0.977	T	0.12192	-1.0557	9	0.72032	D	0.01	.	7.0902	0.25279	0.0:0.7151:0.2848:0.0	.	441	P0C7V5	ZN812_HUMAN	E	441	ENSP00000395629:G441E	ENSP00000395629:G441E	G	-	2	0	ZNF812	9661857	0.000000	0.05858	0.039000	0.18376	0.085000	0.17905	0.251000	0.18257	0.061000	0.16311	0.195000	0.17529	GGG	ZNF812	-	pfscan_Znf_C2H2	ENSG00000224689		0.393	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	83	0.00	0	C			9800857	9800857	-1	no_errors	ENST00000457674	ensembl	human	known	69_37n	missense	49	34.67	26	SNP	0.974	T
ZNF211	10520	genome.wustl.edu	37	19	58153270	58153270	+	Silent	SNP	G	G	A			TCGA-C8-A131-01A-11D-A10Y-09	TCGA-C8-A131-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df8c72f3-ca4f-4a15-8d58-976d9c796570	cb269dc6-19ce-4327-9c01-cb7484aa8387	g.chr19:58153270G>A	ENST00000347302.3	+	3	1595	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	ZNF211_ENST00000254182.7_Silent_p.Q463Q|ZNF211_ENST00000541801.1_Silent_p.Q463Q|ZNF211_ENST00000420680.1_Silent_p.Q476Q|ZNF211_ENST00000299871.5_Silent_p.Q537Q|ZNF211_ENST00000240731.4_Silent_p.Q485Q|ZNF211_ENST00000544273.1_Silent_p.Q484Q|ZNF211_ENST00000391703.3_Silent_p.Q411Q	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAACCACCAGAGAGTTCACA	0.458																																						dbGAP											0													105.0	103.0	104.0					19																	58153270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1416G>A	19.37:g.58153270G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E476K	ENST00000347302.3	37	c.1426	CCDS12957.1	19	.	.	.	.	.	.	.	.	.	.	g	4.940	0.174726	0.09391	.	.	ENSG00000121417	ENST00000407202	.	.	.	3.38	1.05	0.20165	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.24382	N	0.994783	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	4.293	0.10888	0.2227:0.3729:0.4044:0.0	.	.	.	.	K	476	.	.	E	+	1	0	ZNF211	62845082	0.000000	0.05858	0.010000	0.14722	0.982000	0.71751	0.446000	0.21694	0.210000	0.20664	0.585000	0.79938	GAG	ZNF211	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121417		0.458	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	201	0.00	0	G			58153270	58153270	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000407202	ensembl	human	putative	69_37n	missense	152	10.06	17	SNP	0.013	A
