#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
ABCC12	94160	genome.wustl.edu	37	16	48173212	48173212	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr16:48173212C>T	ENST00000311303.3	-	5	1038	c.693G>A	c.(691-693)ttG>ttA	p.L231L	ABCC12_ENST00000448542.1_Silent_p.L231L|ABCC12_ENST00000416054.1_Silent_p.L231L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	231	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGCTTCAAACAAAGAATAGC	0.458																																						dbGAP											0													111.0	101.0	105.0					16																	48173212		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.693G>A	16.37:g.48173212C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L231	ENST00000311303.3	37	c.693	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000140798		0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	221	0.00	0	C	NM_033226		48173212	48173212	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	silent	230	20.62	60	SNP	1.000	T
ACACB	32	genome.wustl.edu	37	12	109617839	109617839	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr12:109617839C>A	ENST00000338432.7	+	11	1884	c.1765C>A	c.(1765-1767)Cat>Aat	p.H589N	ACACB_ENST00000377854.5_Missense_Mutation_p.H589N|ACACB_ENST00000377848.3_Missense_Mutation_p.H589N|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	589	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCAGGTGGAACATCCCTGCAC	0.552																																						dbGAP											0													107.0	94.0	98.0					12																	109617839		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1765C>A	12.37:g.109617839C>A	ENSP00000341044:p.His589Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H589N	ENST00000338432.7	37	c.1765	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918539	0.92249	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97505	-4.41;-4.41;-4.41	4.89	4.89	0.63831	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	H	0.98407	4.225	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98939	1.0790	10	0.87932	D	0	.	18.0431	0.89324	0.0:1.0:0.0:0.0	.	589	O00763	ACACB_HUMAN	N	589	ENSP00000341044:H589N;ENSP00000367079:H589N;ENSP00000367085:H589N	ENSP00000341044:H589N	H	+	1	0	ACACB	108102222	1.000000	0.71417	0.909000	0.35828	0.944000	0.59088	7.710000	0.84655	2.263000	0.75096	0.655000	0.94253	CAT	ACACB	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom	ENSG00000076555		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	83	0.00	0	C	NM_001093		109617839	109617839	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	missense	82	24.07	26	SNP	1.000	A
ACER3	55331	genome.wustl.edu	37	11	76572075	76572075	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr11:76572075G>T	ENST00000532485.1	+	1	159	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	ACER3_ENST00000526597.1_5'UTR|ACER3_ENST00000538157.1_5'UTR|ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000533873.1_Missense_Mutation_p.D19Y	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	19					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						CTCCACGCTGGACTGGTGCGA	0.716																																						dbGAP											0													43.0	27.0	33.0					11																	76572075		2079	4009	6088	-	-	-	SO:0001583	missense	0			AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.55G>T	11.37:g.76572075G>T	ENSP00000434480:p.Asp19Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC99	Missense_Mutation	SNP	pfam_Ceramidase	p.D19Y	ENST00000532485.1	37	c.55	CCDS8247.1	11	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754657	0.89843	.	.	ENSG00000078124	ENST00000532485;ENST00000533873	T;T	0.57107	0.42;0.42	4.71	3.79	0.43588	.	0.433499	0.21064	N	0.080776	T	0.75860	0.3907	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.964	T	0.80874	-0.1187	10	0.87932	D	0	-7.5476	13.1931	0.59722	0.0:0.0:0.8389:0.1611	.	19;19	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	Y	19	ENSP00000434480:D19Y;ENSP00000436252:D19Y	ENSP00000278544:D19Y	D	+	1	0	ACER3	76249723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.085000	0.71343	1.100000	0.41517	0.491000	0.48974	GAC	ACER3	-	pfam_Ceramidase	ENSG00000078124		0.716	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER3	HGNC	protein_coding	OTTHUMT00000382770.2	29	0.00	0	G	NM_018367		76572075	76572075	+1	no_errors	ENST00000532485	ensembl	human	known	69_37n	missense	7	72.00	18	SNP	1.000	T
ACVR2A	92	genome.wustl.edu	37	2	148657335	148657335	+	Silent	SNP	T	T	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr2:148657335T>G	ENST00000241416.7	+	4	1032	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ACVR2A_ENST00000404590.1_Silent_p.P132P|ACVR2A_ENST00000535787.1_Silent_p.P24P|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	132					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CAGTTACACCTAAGCCACCCT	0.393																																						dbGAP											0													296.0	292.0	293.0					2																	148657335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.396T>G	2.37:g.148657335T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.P132	ENST00000241416.7	37	c.396	CCDS33301.1	2																																																																																			ACVR2A	-	NULL	ENSG00000121989		0.393	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	312	0.00	0	T	NM_001616		148657335	148657335	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	silent	124	18.95	29	SNP	0.997	G
AIPL1	23746	genome.wustl.edu	37	17	6337305	6337305	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr17:6337305C>A	ENST00000381129.3	-	2	290	c.210G>T	c.(208-210)gaG>gaT	p.E70D	AIPL1_ENST00000575265.1_Missense_Mutation_p.E70D|AIPL1_ENST00000571740.1_Missense_Mutation_p.E70D|AIPL1_ENST00000574506.1_Missense_Mutation_p.E58D|AIPL1_ENST00000250087.5_Missense_Mutation_p.E70D|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.E70D|AIPL1_ENST00000570466.1_Missense_Mutation_p.E48D	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	70	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCTCCCAGACCTCGAGCTTGA	0.587																																						dbGAP											0													155.0	106.0	123.0					17																	6337305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.210G>T	17.37:g.6337305C>A	ENSP00000370521:p.Glu70Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom	p.E70D	ENST00000381129.3	37	c.210	CCDS11075.1	17	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678175	0.47886	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.86432	-2.12;-2.12	4.91	3.84	0.44239	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.050071	0.85682	D	0.000000	D	0.86422	0.5929	L	0.48218	1.51	0.41692	D	0.989356	B;B;B;D;B	0.63046	0.104;0.219;0.004;0.992;0.055	B;B;B;P;B	0.59221	0.058;0.126;0.01;0.854;0.101	D	0.84303	0.0506	10	0.37606	T	0.19	-30.477	4.3728	0.11256	0.0:0.7165:0.0:0.2835	.	70;48;70;70;70	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	D	70	ENSP00000370521:E70D;ENSP00000250087:E70D	ENSP00000250087:E70D	E	-	3	2	AIPL1	6278029	0.990000	0.36364	1.000000	0.80357	0.987000	0.75469	0.230000	0.17852	2.251000	0.74343	0.650000	0.86243	GAG	AIPL1	-	pfam_PPIase_FKBP_dom	ENSG00000129221		0.587	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AIPL1	HGNC	protein_coding	OTTHUMT00000219828.3	79	0.00	0	C	NM_014336		6337305	6337305	-1	no_errors	ENST00000381129	ensembl	human	known	69_37n	missense	54	37.21	32	SNP	1.000	A
AKAP12	9590	genome.wustl.edu	37	6	151674861	151674861	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:151674861C>T	ENST00000253332.1	+	3	5524	c.5335C>T	c.(5335-5337)Ctt>Ttt	p.L1779F	AKAP12_ENST00000354675.6_Missense_Mutation_p.L1681F|AKAP12_ENST00000402676.2_Missense_Mutation_p.L1779F|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1674F			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1779					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGTCAGAACTTACAGAATC	0.378																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													75.0	76.0	75.0					6																	151674861		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.5335C>T	6.37:g.151674861C>T	ENSP00000253332:p.Leu1779Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.L1779F	ENST00000253332.1	37	c.5335	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537804	0.27475	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.11712	2.75;2.75;2.77;2.77	5.06	4.17	0.49024	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	P;P;B	0.37207	0.587;0.587;0.451	B;B;B	0.38156	0.266;0.266;0.137	T	0.40831	-0.9542	9	0.32370	T	0.25	.	8.3441	0.32261	0.1553:0.766:0.0:0.0787	.	1674;1681;1779	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	F	1779;1779;1681;1674	ENSP00000384537:L1779F;ENSP00000253332:L1779F;ENSP00000346702:L1681F;ENSP00000352794:L1674F	ENSP00000253332:L1779F	L	+	1	0	AKAP12	151716554	0.000000	0.05858	0.037000	0.18230	0.016000	0.09150	0.122000	0.15687	2.521000	0.84997	0.462000	0.41574	CTT	AKAP12	-	NULL	ENSG00000131016		0.378	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	305	0.00	0	C			151674861	151674861	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	113	54.18	136	SNP	0.008	T
ALDH3B2	222	genome.wustl.edu	37	11	67431876	67431876	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr11:67431876G>T	ENST00000349015.3	-	8	1302	c.864C>A	c.(862-864)aaC>aaA	p.N288K	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.N288K	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	288					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CCTGGCTGCTGTTGGAGAAGG	0.632																																						dbGAP											0													89.0	91.0	90.0					11																	67431876		2200	4294	6494	-	-	-	SO:0001583	missense	0			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.864C>A	11.37:g.67431876G>T	ENSP00000255084:p.Asn288Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.N288K	ENST00000349015.3	37	c.864	CCDS31622.1	11	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748611	0.15710	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	D;D	0.84298	-1.83;-1.83	3.72	1.75	0.24633	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.650048	0.14734	N	0.301574	T	0.65386	0.2686	N	0.13352	0.335	0.22424	N	0.999117	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.49934	-0.8886	10	0.06365	T	0.9	.	4.2485	0.10682	0.2066:0.4033:0.3901:0.0	.	173;288	B4DSX1;P48448	.;AL3B2_HUMAN	K	288	ENSP00000431595:N288K;ENSP00000255084:N288K	ENSP00000255084:N288K	N	-	3	2	ALDH3B2	67188452	0.000000	0.05858	0.807000	0.32361	0.982000	0.71751	-0.108000	0.10857	0.350000	0.24002	0.561000	0.74099	AAC	ALDH3B2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000132746		0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	69	0.00	0	G	NM_000695		67431876	67431876	-1	no_errors	ENST00000349015	ensembl	human	known	69_37n	missense	16	77.78	56	SNP	0.370	T
ASH2L	9070	genome.wustl.edu	37	8	37972459	37972459	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr8:37972459C>A	ENST00000343823.6	+	7	1027	c.718C>A	c.(718-720)Cca>Aca	p.P240T	ASH2L_ENST00000250635.7_Missense_Mutation_p.P146T|ASH2L_ENST00000545394.1_Missense_Mutation_p.P101T|ASH2L_ENST00000521652.1_Missense_Mutation_p.P146T|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.P146T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	240					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AAAGGAACACCCAGATCCAGG	0.294																																						dbGAP											0													72.0	74.0	73.0					8																	37972459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.718C>A	8.37:g.37972459C>A	ENSP00000340896:p.Pro240Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.P240T	ENST00000343823.6	37	c.718	CCDS6101.1	8	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593503	0.46214	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	N	0.21194	0.64	0.80722	D	1	B;D	0.76494	0.128;0.999	B;D	0.77557	0.049;0.99	T	0.07809	-1.0753	10	0.14656	T	0.56	.	18.7032	0.91629	0.0:1.0:0.0:0.0	.	146;240	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	T	240;146;101;146;146	ENSP00000340896:P240T;ENSP00000250635:P146T;ENSP00000443606:P101T;ENSP00000395310:P146T;ENSP00000430259:P146T	ENSP00000250635:P146T	P	+	1	0	ASH2L	38091616	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.605000	0.82844	2.407000	0.81776	0.561000	0.74099	CCA	ASH2L	-	NULL	ENSG00000129691		0.294	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	218	0.46	1	C	NM_004674		37972459	37972459	+1	no_errors	ENST00000343823	ensembl	human	known	69_37n	missense	155	10.40	18	SNP	1.000	A
ATP9B	374868	genome.wustl.edu	37	18	77037109	77037109	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr18:77037109G>C	ENST00000426216.2	+	13	1341	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	ATP9B_ENST00000307671.7_Missense_Mutation_p.D442H	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	442					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATGATGAAAGATGAGAACAT	0.493																																						dbGAP											0													230.0	204.0	213.0					18																	77037109		2203	4300	6503	-	-	-	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1324G>C	18.37:g.77037109G>C	ENSP00000398076:p.Asp442His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D442H	ENST00000426216.2	37	c.1324	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642665	0.67244	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90732	-2.72;-2.72	5.4	5.4	0.78164	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98602	1.0659	10	0.87932	D	0	.	19.5384	0.95264	0.0:0.0:1.0:0.0	.	442;442	O43861;O43861-2	ATP9B_HUMAN;.	H	442	ENSP00000398076:D442H;ENSP00000304500:D442H	ENSP00000304500:D442H	D	+	1	0	ATP9B	75138097	1.000000	0.71417	0.241000	0.24154	0.309000	0.27889	9.053000	0.93860	2.687000	0.91594	0.655000	0.94253	GAT	ATP9B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000166377		0.493	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	285	0.00	0	G	NM_198531		77037109	77037109	+1	no_errors	ENST00000426216	ensembl	human	known	69_37n	missense	59	68.42	130	SNP	1.000	C
BTN3A3	10384	genome.wustl.edu	37	6	26448491	26448491	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:26448491G>C	ENST00000244519.2	+	6	974	c.731G>C	c.(730-732)aGc>aCc	p.S244T	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S202T|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S202T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	244					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TTCTTCAGGAGCGCCCAGCCC	0.607																																						dbGAP											0													47.0	49.0	48.0					6																	26448491		2203	4299	6502	-	-	-	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.731G>C	6.37:g.26448491G>C	ENSP00000244519:p.Ser244Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.S244T	ENST00000244519.2	37	c.731	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	4.035	0.004102	0.07866	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000487272	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	1.75	0.856	0.19019	.	.	.	.	.	T	0.07818	0.0196	M	0.63843	1.955	0.09310	N	1	P;B	0.48764	0.915;0.012	B;B	0.33750	0.169;0.008	T	0.21793	-1.0235	9	0.19147	T	0.46	.	4.3966	0.11365	0.2076:0.0:0.7924:0.0	.	202;244	E9PCP5;O00478	.;BT3A3_HUMAN	T	244;202;202;202	ENSP00000244519:S244T;ENSP00000344968:S202T;ENSP00000355238:S202T;ENSP00000419445:S202T	ENSP00000244519:S244T	S	+	2	0	BTN3A3	26556470	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	-0.012000	0.12699	0.317000	0.23160	-0.374000	0.07098	AGC	BTN3A3	-	NULL	ENSG00000111801		0.607	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	83	0.00	0	G	NM_006994		26448491	26448491	+1	no_errors	ENST00000244519	ensembl	human	known	69_37n	missense	92	21.19	25	SNP	0.000	C
CASKIN2	57513	genome.wustl.edu	37	17	73502696	73502696	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr17:73502696C>A	ENST00000321617.3	-	7	1171	c.585G>T	c.(583-585)ttG>ttT	p.L195F	CASKIN2_ENST00000581870.1_Missense_Mutation_p.L195F|CASKIN2_ENST00000433559.2_Missense_Mutation_p.L113F	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	195						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTGGCAGCCAAGTGCAGGG	0.612																																						dbGAP											0													111.0	100.0	104.0					17																	73502696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.585G>T	17.37:g.73502696C>A	ENSP00000325355:p.Leu195Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.L195F	ENST00000321617.3	37	c.585	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443734	0.83993	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.67171	-0.25;-0.25	4.98	3.99	0.46301	Ankyrin repeat-containing domain (4);	0.000000	0.34906	N	0.003596	T	0.69260	0.3091	N	0.20845	0.615	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.73110	-0.4086	10	0.59425	D	0.04	.	13.7005	0.62606	0.0:0.9234:0.0:0.0766	.	113;195	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	F	195;113	ENSP00000325355:L195F;ENSP00000406963:L113F	ENSP00000325355:L195F	L	-	3	2	CASKIN2	71014291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.661000	0.25023	2.289000	0.77006	0.561000	0.74099	TTG	CASKIN2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177303		0.612	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	67	0.00	0	C	NM_020753		73502696	73502696	-1	no_errors	ENST00000321617	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	1.000	A
CBX3	11335	genome.wustl.edu	37	7	26248127	26248127	+	Silent	SNP	A	A	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr7:26248127A>G	ENST00000337620.4	+	4	710	c.282A>G	c.(280-282)ttA>ttG	p.L94L	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.L94L|CBX3_ENST00000409747.1_Missense_Mutation_p.Y70C	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	94					chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GAAAATCTTTATCTGACAGTG	0.358																																						dbGAP											0													45.0	50.0	48.0					7																	26248127		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.282A>G	7.37:g.26248127A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,pfscan_Chromo_domain/shadow	p.Y70C	ENST00000337620.4	37	c.209	CCDS5398.1	7	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380711	0.42207	.	.	ENSG00000122565	ENST00000409747	.	.	.	5.35	4.18	0.49190	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.25858	N	0.983864	B	0.02656	0.0	B	0.04013	0.001	T	0.13255	-1.0516	7	0.87932	D	0	.	3.216	0.06699	0.621:0.0:0.1923:0.1866	.	70	B8ZZ43	.	C	70	.	ENSP00000387348:Y70C	Y	+	2	0	CBX3	26214652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.961000	0.29267	2.150000	0.67090	0.533000	0.62120	TAT	CBX3	-	pfscan_Chromo_domain/shadow	ENSG00000122565		0.358	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	293	0.00	0	A	NM_007276		26248127	26248127	+1	no_errors	ENST00000409747	ensembl	human	novel	69_37n	missense	90	35.25	49	SNP	1.000	G
CD163	9332	genome.wustl.edu	37	12	7640285	7640285	+	Intron	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr12:7640285G>C	ENST00000359156.4	-	8	1938				CD163_ENST00000541972.1_Intron|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.P607A|CD163_ENST00000432237.2_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGGAGACAGGGCTTTAGAAAA	0.488																																						dbGAP											0													69.0	72.0	71.0					12																	7640285		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1736-16C>G	12.37:g.7640285G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.P607A	ENST00000359156.4	37	c.1819	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	0.881	-0.728865	0.03135	.	.	ENSG00000177575	ENST00000396620	T	0.01209	5.17	5.11	2.28	0.28536	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	0.999997	B	0.20261	0.043	B	0.19148	0.024	T	0.48854	-0.8998	7	.	.	.	.	9.2416	0.37500	0.2451:0.0:0.7549:0.0	.	607	C9JHR8	.	A	607	ENSP00000379863:P607A	.	P	-	1	0	CD163	7531552	0.000000	0.05858	0.227000	0.23927	0.050000	0.14768	-0.142000	0.10311	0.268000	0.21939	-0.150000	0.13652	CCC	CD163	-	NULL	ENSG00000177575		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	79	0.00	0	G	NM_004244, NM_203416		7640285	7640285	-1	no_errors	ENST00000396620	ensembl	human	known	69_37n	missense	146	13.10	22	SNP	0.105	C
CEP250	11190	genome.wustl.edu	37	20	34054871	34054871	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr20:34054871C>T	ENST00000397527.1	+	8	1293	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CEP250_ENST00000397524.1_Silent_p.F191F|CEP250_ENST00000342580.4_Silent_p.F191F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	191					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GACGCCACTTCCTGGAAATGA	0.522																																						dbGAP											0													75.0	67.0	70.0					20																	34054871		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.573C>T	20.37:g.34054871C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.F191	ENST00000397527.1	37	c.573	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.522	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	106	0.00	0	C	NM_007186		34054871	34054871	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	silent	87	20.18	22	SNP	1.000	T
C2	717	genome.wustl.edu	37	6	31895941	31895941	+	Splice_Site	SNP	C	C	T	rs567227615		TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:31895941C>T	ENST00000299367.5	+	2	532	c.256C>T	c.(256-258)Cct>Tct	p.P86S	C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Splice_Site_p.P86S|CFB_ENST00000456570.1_Splice_Site_p.P86S|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Splice_Site_p.P86S|C2_ENST00000418949.2_Splice_Site_p.P86S	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	86	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTGCAAACGTGAGGCTCC	0.602																																						dbGAP											0													11.0	12.0	12.0					6																	31895941		2186	4288	6474	-	-	-	SO:0001630	splice_region_variant	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.256+1C>T	6.37:g.31895941C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P86S	ENST00000299367.5	37	c.256	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189332	0.38707	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;T;T;T;T;T	0.73575	0.93;0.73;0.93;0.73;-0.76;-0.76;0.73	5.22	2.45	0.29901	Complement control module (3);Sushi/SCR/CCP (1);	0.000000	0.38217	N	0.001776	T	0.33323	0.0859	.	.	.	0.30492	N	0.771254	P;B;P	0.49185	0.781;0.315;0.92	B;B;B	0.36030	0.216;0.036;0.097	T	0.14364	-1.0475	9	0.26408	T	0.33	-12.1022	4.9843	0.14182	0.0:0.5892:0.1538:0.2569	.	86;86;86	B4E1Z4;P06681;Q8N6L6	.;CO2_HUMAN;.	S	86	ENSP00000403325:P86S;ENSP00000299367:P86S;ENSP00000391354:P86S;ENSP00000406190:P86S;ENSP00000451848:P86S;ENSP00000410815:P86S;ENSP00000418996:P86S	ENSP00000299367:P86S	P	+	1	0	CFB;C2;XXbac-BPG116M5.17	32003920	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	0.542000	0.23222	0.797000	0.33971	-0.136000	0.14681	CCT	CFB	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP	ENSG00000243649		0.602	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076379.9	18	0.00	0	C		Missense_Mutation	31895941	31895941	+1	no_errors	ENST00000556679	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	T
COL10A1	1300	genome.wustl.edu	37	6	116443059	116443059	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:116443059G>A	ENST00000327673.4	-	2	627	c.220C>T	c.(220-222)Cca>Tca	p.P74S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P74S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	74	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GAAGGACCTGGGTGCCCTCGA	0.582																																						dbGAP											0													95.0	94.0	94.0					6																	116443059		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.220C>T	6.37:g.116443059G>A	ENSP00000327368:p.Pro74Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P2	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.P74S	ENST00000327673.4	37	c.220	CCDS5105.1	6	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933401	0.34096	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.93811	-3.29;-3.29;-3.29	5.55	5.55	0.83447	.	0.485142	0.21625	N	0.071577	D	0.91962	0.7454	L	0.55103	1.725	0.46458	D	0.999055	P	0.47484	0.896	P	0.46419	0.516	D	0.91322	0.5083	10	0.44086	T	0.13	.	19.8686	0.96842	0.0:0.0:1.0:0.0	.	74	Q03692	COAA1_HUMAN	S	74	ENSP00000243222:P74S;ENSP00000327368:P74S;ENSP00000411285:P74S	ENSP00000243222:P74S	P	-	1	0	COL10A1	116549752	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	8.288000	0.89921	2.768000	0.95171	0.655000	0.94253	CCA	COL10A1	-	pfam_Collagen	ENSG00000123500		0.582	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1	78	0.00	0	G			116443059	116443059	-1	no_errors	ENST00000243222	ensembl	human	known	69_37n	missense	57	42.42	42	SNP	0.976	A
COL25A1	84570	genome.wustl.edu	37	4	109767306	109767307	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr4:109767306_109767307insT	ENST00000399132.1	-	28	2033_2034	c.1503_1504insA	c.(1501-1506)cttcctfs	p.P502fs	COL25A1_ENST00000399127.1_Frame_Shift_Ins_p.P475fs|COL25A1_ENST00000399126.1_Frame_Shift_Ins_p.P502fs	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTAATCCAGGAAGTCCAATTC	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1503_1504insA	4.37:g.109767306_109767307insT	ENSP00000382083:p.Pro502fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Collagen	p.P501fs	ENST00000399132.1	37	c.1504_1503	CCDS43258.1	4																																																																																			COL25A1	-	pfam_Collagen	ENSG00000188517		0.347	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	310	0.00	0	-	NM_032518		109767306	109767307	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	frame_shift_ins	105	33.12	52	INS	1.000:0.985	T
CTNNB1	1499	genome.wustl.edu	37	3	41266593	41266593	+	Silent	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr3:41266593G>A	ENST00000349496.5	+	4	670	c.390G>A	c.(388-390)caG>caA	p.Q130Q	CTNNB1_ENST00000396183.3_Silent_p.Q130Q|CTNNB1_ENST00000396185.3_Silent_p.Q130Q|CTNNB1_ENST00000405570.1_Silent_p.Q130Q|CTNNB1_ENST00000453024.1_Silent_p.Q123Q	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	130					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H24_M131del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AACCATCACAGATGCTGAAAC	0.448		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	dbGAP		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	30	Deletion - In frame(23)|Complex - deletion inframe(7)	liver(24)|stomach(5)|skin(1)											153.0	132.0	139.0					3																	41266593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.390G>A	3.37:g.41266593G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.Q130	ENST00000349496.5	37	c.390	CCDS2694.1	3																																																																																			CTNNB1	-	prints_Beta-catenin	ENSG00000168036		0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	219	0.00	0	G	NM_001098210		41266593	41266593	+1	no_errors	ENST00000349496	ensembl	human	known	69_37n	silent	92	36.55	53	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39869637	39869637	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:39869637C>A	ENST00000398904.2	+	25	3213	c.3031C>A	c.(3031-3033)Ctg>Atg	p.L1011M	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.L1010M|DAAM2_ENST00000274867.4_Missense_Mutation_p.L1011M			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1011					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGAAGGTCCTGGCTGCAGG	0.647																																						dbGAP											0													22.0	31.0	28.0					6																	39869637		2092	4224	6316	-	-	-	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3031C>A	6.37:g.39869637C>A	ENSP00000381876:p.Leu1011Met	Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L1011M	ENST00000398904.2	37	c.3031	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246196	0.39697	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.79749	-1.3;-1.3;-1.3	5.64	3.73	0.42828	Actin-binding FH2/DRF autoregulatory (1);	8.131200	0.01231	U	0.008347	T	0.66645	0.2810	N	0.20986	0.625	0.09310	N	1	B;D	0.61697	0.376;0.99	B;P	0.54759	0.153;0.76	T	0.58549	-0.7617	10	0.45353	T	0.12	.	4.5607	0.12160	0.1796:0.5933:0.1368:0.0902	.	1010;1011	G5EA45;Q86T65	.;DAAM2_HUMAN	M	1011;1011;1010	ENSP00000274867:L1011M;ENSP00000381876:L1011M;ENSP00000437808:L1010M	ENSP00000274867:L1011M	L	+	1	2	DAAM2	39977615	0.004000	0.15560	0.856000	0.33681	0.964000	0.63967	1.028000	0.30128	1.353000	0.45828	0.655000	0.94253	CTG	DAAM2	-	smart_Actin-bd_FH2/DRF_autoreg	ENSG00000146122		0.647	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	51	0.00	0	C			39869637	39869637	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	0.011	A
DNAH17	8632	genome.wustl.edu	37	17	76492022	76492022	+	Silent	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr17:76492022G>A	ENST00000585328.1	-	38	5947	c.5823C>T	c.(5821-5823)ttC>ttT	p.F1941F	DNAH17-AS1_ENST00000598378.1_5'Flank|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.F1932F	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1932	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATGGTGATGAAGATACCGA	0.532																																						dbGAP											0													116.0	116.0	116.0					17																	76492022		2052	4229	6281	-	-	-	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5823C>T	17.37:g.76492022G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.F1932	ENST00000585328.1	37	c.5796		17																																																																																			DNAH17	-	NULL	ENSG00000187775		0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	278	0.00	0	G	NM_173628		76492022	76492022	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	silent	311	19.59	76	SNP	1.000	A
DNAJC10	54431	genome.wustl.edu	37	2	183608386	183608386	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr2:183608386C>T	ENST00000264065.7	+	14	1668	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	418	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTTTTTCAGCCGTCTCTAGCA	0.338																																					Pancreas(56;860 1183 25669 35822 48585)	dbGAP											0													158.0	150.0	153.0					2																	183608386		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1253C>T	2.37:g.183608386C>T	ENSP00000264065:p.Pro418Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N	p.P418L	ENST00000264065.7	37	c.1253	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.102404	0.94245	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.50548	0.74	5.22	5.22	0.72569	Thioredoxin-like fold (2);	0.127938	0.53938	D	0.000056	T	0.69151	0.3079	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.63113	0.911;0.574	T	0.73553	-0.3946	10	0.87932	D	0	.	19.1271	0.93390	0.0:1.0:0.0:0.0	.	372;418	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	L	418;372	ENSP00000264065:P418L	ENSP00000264065:P418L	P	+	2	0	DNAJC10	183316631	1.000000	0.71417	0.944000	0.38274	0.920000	0.55202	6.881000	0.75584	2.585000	0.87301	0.655000	0.94253	CCG	DNAJC10	-	superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C	ENSG00000077232		0.338	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	601	0.00	0	C	NM_018981		183608386	183608386	+1	no_errors	ENST00000264065	ensembl	human	known	69_37n	missense	254	35.86	142	SNP	1.000	T
DSE	29940	genome.wustl.edu	37	6	116720652	116720652	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:116720652C>A	ENST00000331677.3	+	3	683	c.239C>A	c.(238-240)tCc>tAc	p.S80Y	DSE_ENST00000452085.3_Missense_Mutation_p.S80Y|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.S80Y|DSE_ENST00000537543.1_Missense_Mutation_p.S99Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	80					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACGATGCTGTCCAGCCCCTTG	0.582																																						dbGAP											0													44.0	41.0	42.0					6																	116720652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.239C>A	6.37:g.116720652C>A	ENSP00000332151:p.Ser80Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.S99Y	ENST00000331677.3	37	c.296	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089447	0.55968	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.52754	1.63;0.65;0.65;0.65;0.65	5.46	5.46	0.80206	.	0.264540	0.38837	N	0.001545	T	0.41604	0.1166	L	0.47190	1.495	0.37994	D	0.934023	B;B	0.24963	0.115;0.115	B;B	0.37239	0.244;0.1	T	0.44345	-0.9334	10	0.87932	D	0	-16.0458	19.5125	0.95148	0.0:1.0:0.0:0.0	.	99;80	B7Z765;Q9UL01	.;DSE_HUMAN	Y	80;80;99;80;80	ENSP00000397597:S80Y;ENSP00000404049:S80Y;ENSP00000441152:S99Y;ENSP00000332151:S80Y;ENSP00000352567:S80Y	ENSP00000332151:S80Y	S	+	2	0	DSE	116827345	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.813000	0.62620	2.840000	0.97914	0.655000	0.94253	TCC	DSE	-	superfamily_Chondroitin_lyas	ENSG00000111817		0.582	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	75	0.00	0	C	NM_013352		116720652	116720652	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	50	44.57	41	SNP	1.000	A
DUPD1	338599	genome.wustl.edu	37	10	76797815	76797815	+	Missense_Mutation	SNP	C	C	T	rs190150687		TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr10:76797815C>T	ENST00000338487.5	-	3	441	c.442G>A	c.(442-444)Gtc>Atc	p.V148I		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGCCCATGACGCAGTGAACC	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18461	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	52.0	54.0					10																	76797815		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.442G>A	10.37:g.76797815C>T	ENSP00000340609:p.Val148Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP93	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.V148I	ENST00000338487.5	37	c.442	CCDS31223.1	10	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.44	3.827567	0.71143	.	.	ENSG00000188716	ENST00000338487	T	0.60424	0.19	4.65	4.65	0.58169	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.268590	0.35151	N	0.003402	T	0.48554	0.1506	L	0.46885	1.475	0.32751	N	0.506417	P	0.42827	0.791	B	0.31869	0.137	T	0.65878	-0.6061	10	0.49607	T	0.09	-10.9122	17.7613	0.88465	0.0:1.0:0.0:0.0	.	148	Q68J44	DUPD1_HUMAN	I	148	ENSP00000340609:V148I	ENSP00000340609:V148I	V	-	1	0	DUPD1	76467821	1.000000	0.71417	0.803000	0.32268	0.823000	0.46562	7.294000	0.78760	2.444000	0.82710	0.485000	0.47835	GTC	DUPD1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000188716		0.617	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUPD1	HGNC	protein_coding	OTTHUMT00000048777.2	31	0.00	0	C	XM_291741		76797815	76797815	-1	no_errors	ENST00000338487	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.989	T
EDAR	10913	genome.wustl.edu	37	2	109513664	109513664	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr2:109513664G>A	ENST00000258443.2	-	12	1476	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	EDAR_ENST00000409271.1_Missense_Mutation_p.P381L|EDAR_ENST00000376651.1_Missense_Mutation_p.P381L	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	349					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCAATCAAATGGCAGCTCCGT	0.493																																						dbGAP											0													51.0	46.0	48.0					2																	109513664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1046C>T	2.37:g.109513664G>A	ENSP00000258443:p.Pro349Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.P381L	ENST00000258443.2	37	c.1142	CCDS2081.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423470	0.83559	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.91894	-2.93;-2.93;-2.93	5.64	5.64	0.86602	DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95834	0.8860	10	0.87932	D	0	-22.5204	19.7209	0.96143	0.0:0.0:1.0:0.0	.	381;349	E9PC98;Q9UNE0	.;EDAR_HUMAN	L	381;349;381	ENSP00000386371:P381L;ENSP00000258443:P349L;ENSP00000365839:P381L	ENSP00000258443:P349L	P	-	2	0	EDAR	108880096	1.000000	0.71417	0.960000	0.40013	0.316000	0.28119	9.476000	0.97823	2.651000	0.90000	0.650000	0.86243	CCA	EDAR	-	superfamily_DEATH-like	ENSG00000135960		0.493	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	57	0.00	0	G			109513664	109513664	-1	no_errors	ENST00000376651	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	A
EHD4	30844	genome.wustl.edu	37	15	42192879	42192879	+	Silent	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr15:42192879G>A	ENST00000220325.4	-	6	1673	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	530	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGTGCGAGGGGGGCACGAGGT	0.667																																						dbGAP											0													20.0	20.0	20.0					15																	42192879		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1590C>T	15.37:g.42192879G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.P530	ENST00000220325.4	37	c.1590	CCDS10081.1	15																																																																																			EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000103966		0.667	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	21	0.00	0	G	NM_139265		42192879	42192879	-1	no_errors	ENST00000220325	ensembl	human	known	69_37n	silent	8	63.64	14	SNP	0.886	A
EMR2	30817	genome.wustl.edu	37	19	14883280	14883280	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr19:14883280C>G	ENST00000315576.3	-	5	680	c.229G>C	c.(229-231)Gtg>Ctg	p.V77L	EMR2_ENST00000601345.1_Missense_Mutation_p.V77L|EMR2_ENST00000392967.2_Missense_Mutation_p.V77L|EMR2_ENST00000594294.1_Missense_Mutation_p.V77L|EMR2_ENST00000353005.1_Missense_Mutation_p.V77L|EMR2_ENST00000346057.1_Missense_Mutation_p.V77L|EMR2_ENST00000595839.1_Missense_Mutation_p.V77L|EMR2_ENST00000594076.1_Missense_Mutation_p.V77L|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000596991.2_Missense_Mutation_p.V77L|EMR2_ENST00000353876.1_Missense_Mutation_p.V77L|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.V77L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	77	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCGCATGACACTTTCGACAGT	0.532																																						dbGAP											0													163.0	119.0	134.0					19																	14883280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.229G>C	19.37:g.14883280C>G	ENSP00000319883:p.Val77Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V77L	ENST00000315576.3	37	c.229	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483489	0.44147	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	3.95	-4.9	0.03094	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84009	0.5378	L	0.41124	1.26	0.09310	N	1	B;B;B;B;B;B;B	0.25904	0.016;0.0;0.137;0.002;0.016;0.0;0.0	B;B;B;B;B;B;B	0.28139	0.014;0.002;0.086;0.001;0.019;0.007;0.004	T	0.70204	-0.4936	9	0.22109	T	0.4	.	4.8887	0.13715	0.0:0.3303:0.2794:0.3903	.	77;77;77;77;77;77;77	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	L	77	ENSP00000319883:V77L;ENSP00000376694:V77L;ENSP00000263380:V77L;ENSP00000319454:V77L;ENSP00000319838:V77L;ENSP00000376692:V77L;ENSP00000376689:V77L	ENSP00000319883:V77L	V	-	1	0	EMR2	14744280	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.294000	0.00523	-0.743000	0.04784	-0.343000	0.07986	GTG	EMR2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000127507		0.532	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	258	0.39	1	C			14883280	14883280	-1	no_errors	ENST00000315576	ensembl	human	known	69_37n	missense	239	21.38	65	SNP	0.000	G
SLC2A11	66035	genome.wustl.edu	37	22	24226533	24226533	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr22:24226533G>A	ENST00000345044.6	+	11	1475	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	SLC2A11_ENST00000316185.8_Missense_Mutation_p.A406T|SLC2A11_ENST00000398356.2_Missense_Mutation_p.A410T|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	403					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGACCAGATGGCCAGGCCTGC	0.652																																						dbGAP											0													60.0	58.0	59.0					22																	24226533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1207G>A	22.37:g.24226533G>A	ENSP00000342542:p.Ala403Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_Macrophage_inhib_fac,superfamily_Tautomerase	p.W140*	ENST00000345044.6	37	c.420	CCDS46673.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.232|9.232	1.035998|1.035998	0.19590|0.19590	.|.	.|.	ENSG00000133460|ENSG00000251357	ENST00000345044;ENST00000398356;ENST00000407566;ENST00000316185|ENST00000502845	T;T;T|.	0.73789|.	-0.78;-0.78;-0.78|.	3.79|3.79	-0.974|-0.974	0.10293|0.10293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.297863|.	0.35585|.	N|.	0.003105|.	T|.	0.30230|.	0.0758|.	L|L	0.38733|0.38733	1.17|1.17	0.29080|0.29080	N|N	0.882732|0.882732	B;B;B;B|.	0.16396|.	0.017;0.002;0.005;0.005|.	B;B;B;B|.	0.21151|.	0.009;0.008;0.033;0.013|.	T|.	0.33085|.	-0.9882|.	10|.	0.39692|.	T|.	0.17|.	.|.	4.1528|4.1528	0.10245|0.10245	0.3032:0.0:0.5314:0.1653|0.3032:0.0:0.5314:0.1653	.|.	401;406;403;410|.	E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55|.	.;.;GTR11_HUMAN;.|.	T|X	403;410;401;406|140	ENSP00000342542:A403T;ENSP00000381399:A410T;ENSP00000326748:A406T|.	ENSP00000326748:A406T|.	A|W	+|+	1|3	0|0	SLC2A11|AP000350.10	22556533|22556533	0.040000|0.040000	0.19996|0.19996	0.080000|0.080000	0.20451|0.20451	0.261000|0.261000	0.26267|0.26267	0.056000|0.056000	0.14256|0.14256	0.028000|0.028000	0.15324|0.15324	0.505000|0.505000	0.49811|0.49811	GCC|TGG	AP000350.10	-	pfam_Sub_transporter	ENSG00000251357		0.652	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000251357	Clone_based_vega_gene	protein_coding	OTTHUMT00000319889.3	72	0.00	0	G	NM_030807		24226533	24226533	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502845	ensembl	human	putative	69_37n	nonsense	79	19.00	19	SNP	0.682	A
FLG	2312	genome.wustl.edu	37	1	152283132	152283132	+	Silent	SNP	C	C	A	rs138166932		TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:152283132C>A	ENST00000368799.1	-	3	4265	c.4230G>T	c.(4228-4230)gtG>gtT	p.V1410V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1410	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGGCTGACACTGACTGTG	0.557									Ichthyosis																													dbGAP											0													257.0	251.0	253.0					1																	152283132		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4230G>T	1.37:g.152283132C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.V1410	ENST00000368799.1	37	c.4230	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	297	1.00	3	C	NM_002016		152283132	152283132	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	317	17.66	68	SNP	0.000	A
F5	2153	genome.wustl.edu	37	1	169511020	169511020	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:169511020T>C	ENST00000367797.3	-	13	3509	c.3308A>G	c.(3307-3309)aAt>aGt	p.N1103S	F5_ENST00000367796.3_Missense_Mutation_p.N1108S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1103	B.				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)	ATTTGAGGAATTCTGATTATG	0.458																																						dbGAP											0													133.0	127.0	129.0					1																	169511020		2203	4300	6503	-	-	-	SO:0001583	missense	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.3308A>G	1.37:g.169511020T>C	ENSP00000356771:p.Asn1103Ser	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.N1108S	ENST00000367797.3	37	c.3323	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736435	0.03111	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19938	2.11;2.11	4.91	-0.377	0.12501	.	1.053360	0.07321	N	0.877582	T	0.05823	0.0152	M	0.62723	1.935	0.20638	N	0.999876	B	0.15473	0.013	B	0.11329	0.006	T	0.39781	-0.9597	9	0.23302	T	0.38	-0.9537	0.6598	0.00840	0.1669:0.1872:0.1732:0.4727	.	1103	P12259	FA5_HUMAN	S	1103;1108	ENSP00000356771:N1103S;ENSP00000356770:N1108S	ENSP00000356770:N1108S	N	-	2	0	F5	167777644	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.556000	0.05992	0.115000	0.18071	0.446000	0.29264	AAT	F5	-	NULL	ENSG00000198734		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	321	0.00	0	T	NM_000130		169511020	169511020	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	348	16.27	68	SNP	0.000	C
FMR1	2332	genome.wustl.edu	37	X	147026507	147026507	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chrX:147026507C>T	ENST00000370475.4	+	15	1718	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Missense_Mutation_p.T440M|FMR1_ENST00000218200.8_Silent_p.D509D|FMR1_ENST00000440235.2_Silent_p.D177D|FMR1_ENST00000439526.2_Silent_p.D507D|FMR1_ENST00000370470.1_Silent_p.D505D|FMR1_ENST00000370477.1_Silent_p.D497D	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	530	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D530D(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGACGGACGGCGGC	0.507									Fragile X syndrome																													dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											64.0	64.0	64.0					X																	147026507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1590C>T	X.37:g.147026507C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.T440M	ENST00000370475.4	37	c.1319	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346921	0.24426	.	.	ENSG00000102081	ENST00000370471	T	0.56444	0.46	5.7	-0.359	0.12571	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56232	-0.8013	6	0.87932	D	0	-34.8962	6.987	0.24733	0.0:0.4031:0.1171:0.4798	.	.	.	.	M	440	ENSP00000359502:T440M	ENSP00000359502:T440M	T	+	2	0	FMR1	146834199	0.995000	0.38212	0.724000	0.30704	0.193000	0.23685	0.313000	0.19415	-0.042000	0.13535	0.415000	0.27848	ACG	FMR1	-	NULL	ENSG00000102081		0.507	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	386	0.00	0	C	NM_002024		147026507	147026507	+1	no_errors	ENST00000370471	ensembl	human	known	69_37n	missense	412	17.89	90	SNP	0.972	T
GPR84	53831	genome.wustl.edu	37	12	54756651	54756651	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr12:54756651C>G	ENST00000551809.1	-	1	1620	c.985G>C	c.(985-987)Gcc>Ccc	p.A329P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.A329P			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						TAGCTCAGGGCAAAGCAGAGG	0.537																																						dbGAP											0													139.0	137.0	137.0					12																	54756651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.985G>C	12.37:g.54756651C>G	ENSP00000450310:p.Ala329Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B6V9G7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A329P	ENST00000551809.1	37	c.985	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572543	0.45798	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.73363	-0.74;-0.74	4.6	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.440276	0.18469	N	0.140296	T	0.69178	0.3082	M	0.61703	1.905	0.26575	N	0.973498	B	0.28850	0.225	B	0.39805	0.31	T	0.65216	-0.6222	10	0.87932	D	0	-2.2758	4.4998	0.11858	0.3607:0.4061:0.0:0.2332	.	329	Q9NQS5	GPR84_HUMAN	P	329	ENSP00000267015:A329P;ENSP00000450310:A329P	ENSP00000267015:A329P	A	-	1	0	GPR84	53042918	0.002000	0.14202	0.634000	0.29324	0.992000	0.81027	-0.042000	0.12063	-0.356000	0.08187	0.561000	0.74099	GCC	GPR84	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000139572		0.537	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	213	0.00	0	C			54756651	54756651	-1	no_errors	ENST00000267015	ensembl	human	known	69_37n	missense	90	53.61	104	SNP	0.718	G
HMCN1	83872	genome.wustl.edu	37	1	185815169	185815169	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:185815169G>C	ENST00000271588.4	+	2	509	c.280G>C	c.(280-282)Gtg>Ctg	p.V94L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V94L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	94	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATTGGCCCAGTGACAATTAC	0.363																																						dbGAP											0													105.0	103.0	104.0					1																	185815169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.280G>C	1.37:g.185815169G>C	ENSP00000271588:p.Val94Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.V94L	ENST00000271588.4	37	c.280	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648459	0.87958	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.12672	2.66;2.66	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.064386	0.64402	D	0.000009	T	0.32556	0.0833	L	0.49513	1.565	0.54753	D	0.999989	D	0.69078	0.997	D	0.80764	0.994	T	0.00839	-1.1545	10	0.56958	D	0.05	.	16.27	0.82612	0.0:0.0:1.0:0.0	.	94	Q96RW7	HMCN1_HUMAN	L	94	ENSP00000271588:V94L;ENSP00000356462:V94L	ENSP00000271588:V94L	V	+	1	0	HMCN1	184081792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.903000	0.87398	2.562000	0.86427	0.563000	0.77884	GTG	HMCN1	-	NULL	ENSG00000143341		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	381	0.00	0	G	NM_031935		185815169	185815169	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	374	16.33	73	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	186135346	186135346	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:186135346G>T	ENST00000271588.4	+	99	15579	c.15350G>T	c.(15349-15351)tGc>tTc	p.C5117F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5117F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5117	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGAATCCCTGCTCCCATAGC	0.448																																						dbGAP											0													85.0	72.0	77.0					1																	186135346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15350G>T	1.37:g.186135346G>T	ENSP00000271588:p.Cys5117Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.C5117F	ENST00000271588.4	37	c.15350	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692830	0.68271	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.99445	-5.91;-5.91	5.44	5.44	0.79542	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.134164	0.64402	D	0.000001	D	0.99704	0.9887	H	0.98314	4.2	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	D	0.97443	1.0023	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	5117	Q96RW7	HMCN1_HUMAN	F	5117	ENSP00000271588:C5117F;ENSP00000356462:C5117F	ENSP00000271588:C5117F	C	+	2	0	HMCN1	184401969	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	9.731000	0.98807	2.556000	0.86216	0.650000	0.86243	TGC	HMCN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000143341		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	142	0.00	0	G	NM_031935		186135346	186135346	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	104	53.25	123	SNP	1.000	T
HMGCS1	3157	genome.wustl.edu	37	5	43298903	43298903	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr5:43298903C>T	ENST00000325110.6	-	3	371	c.165G>A	c.(163-165)aaG>aaA	p.K55K	HMGCS1_ENST00000433297.2_Silent_p.K55K	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	55					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGAAGCCCATCTTGGCCTGGC	0.403																																						dbGAP											0													122.0	116.0	118.0					5																	43298903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.165G>A	5.37:g.43298903C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL8	Silent	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.K55	ENST00000325110.6	37	c.165	CCDS34154.1	5																																																																																			HMGCS1	-	pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000112972		0.403	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	150	0.00	0	C			43298903	43298903	-1	no_errors	ENST00000325110	ensembl	human	known	69_37n	silent	120	12.95	18	SNP	1.000	T
INPP4A	3631	genome.wustl.edu	37	2	99189391	99189391	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr2:99189391G>A	ENST00000523221.1	+	22	2646		c.e22+1		INPP4A_ENST00000074304.5_Splice_Site|INPP4A_ENST00000409851.3_Splice_Site|INPP4A_ENST00000409016.4_Splice_Site|INPP4A_ENST00000409463.1_Splice_Site|INPP4A_ENST00000409540.3_Splice_Site|INPP4A_ENST00000545415.1_Splice_Site			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGCTGCTGAGGTACTGGTTAC	0.527																																						dbGAP											0													31.0	33.0	33.0					2																	99189391		1993	4155	6148	-	-	-	SO:0001630	splice_region_variant	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2646+1G>A	2.37:g.99189391G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15326|Q13187|Q53TD8|Q8TC02	Splice_Site	SNP	-	e22+1	ENST00000523221.1	37	c.2646+1	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597055	0.66332	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2458	0.87027	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP4A	98555823	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	9.362000	0.97126	2.544000	0.85801	0.462000	0.41574	.	INPP4A	-	-	ENSG00000040933		0.527	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	101	0.00	0	G	NM_001566	Intron	99189391	99189391	+1	no_errors	ENST00000074304	ensembl	human	known	69_37n	splice_site	73	26.73	27	SNP	1.000	A
KCNH3	23416	genome.wustl.edu	37	12	49951310	49951310	+	Silent	SNP	T	T	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr12:49951310T>G	ENST00000257981.6	+	15	3086	c.2826T>G	c.(2824-2826)acT>acG	p.T942T	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	942					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTGTGGACACTGGGGCATCCT	0.706																																						dbGAP											0													46.0	44.0	45.0					12																	49951310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2826T>G	12.37:g.49951310T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.T942	ENST00000257981.6	37	c.2826	CCDS8786.1	12																																																																																			KCNH3	-	NULL	ENSG00000135519		0.706	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	45	0.00	0	T	NM_012284		49951310	49951310	+1	no_errors	ENST00000257981	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.841	G
KIF13A	63971	genome.wustl.edu	37	6	17856279	17856279	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:17856279A>T	ENST00000259711.6	-	5	400	c.295T>A	c.(295-297)Ttt>Att	p.F99I	KIF13A_ENST00000378816.5_Missense_Mutation_p.F99I|KIF13A_ENST00000378843.2_Missense_Mutation_p.F99I|KIF13A_ENST00000378814.5_Missense_Mutation_p.F99I|KIF13A_ENST00000378826.2_Missense_Mutation_p.F99I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	99	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATATGCAAAAATACACGCA	0.418																																						dbGAP											0													84.0	80.0	82.0					6																	17856279		1849	4099	5948	-	-	-	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.295T>A	6.37:g.17856279A>T	ENSP00000259711:p.Phe99Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F99I	ENST00000259711.6	37	c.295	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	A	33	5.252978	0.95336	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.87	5.87	0.94306	Kinesin, motor domain (5);	0.051261	0.85682	D	0.000000	D	0.95481	0.8532	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.995;0.996;0.981;0.99	D	0.96111	0.9077	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	99;99;99;99	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	99	ENSP00000368091:F99I;ENSP00000259711:F99I;ENSP00000368103:F99I;ENSP00000368120:F99I;ENSP00000368093:F99I	ENSP00000259711:F99I	F	-	1	0	KIF13A	17964258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.823000	0.92018	2.371000	0.80710	0.533000	0.62120	TTT	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000137177		0.418	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	377	0.00	0	A			17856279	17856279	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	missense	215	29.74	91	SNP	1.000	T
LMNB1	4001	genome.wustl.edu	37	5	126146015	126146015	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr5:126146015G>C	ENST00000261366.5	+	4	1147	c.786G>C	c.(784-786)gaG>gaC	p.E262D	LMNB1_ENST00000395354.1_Missense_Mutation_p.E262D|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	262	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TGTATAAGGAGGAGCTGGAGC	0.448																																						dbGAP											0													110.0	104.0	106.0					5																	126146015		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.786G>C	5.37:g.126146015G>C	ENSP00000261366:p.Glu262Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	pfam_F,pfam_Lamin_tail_dom	p.E262D	ENST00000261366.5	37	c.786	CCDS4140.1	5	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951216	0.34471	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.89343	-2.5;-2.5	5.35	0.173	0.15036	Filament (1);	0.048938	0.85682	D	0.000000	T	0.78470	0.4288	N	0.21240	0.645	0.51233	D	0.999918	B	0.18013	0.025	B	0.21360	0.034	T	0.62737	-0.6791	10	0.16420	T	0.52	.	11.6383	0.51217	0.509:0.0:0.491:0.0	.	262	P20700	LMNB1_HUMAN	D	262	ENSP00000261366:E262D;ENSP00000378761:E262D	ENSP00000261366:E262D	E	+	3	2	LMNB1	126173914	0.007000	0.16637	0.998000	0.56505	0.995000	0.86356	-1.176000	0.03099	-0.119000	0.11830	-0.295000	0.09555	GAG	LMNB1	-	pfam_F	ENSG00000113368		0.448	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2	219	0.00	0	G	NM_005573		126146015	126146015	+1	no_errors	ENST00000261366	ensembl	human	known	69_37n	missense	119	46.88	105	SNP	0.977	C
LPHN3	23284	genome.wustl.edu	37	4	62936563	62936563	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr4:62936563C>A	ENST00000514591.1	+	25	4676	c.4347C>A	c.(4345-4347)aaC>aaA	p.N1449K	LPHN3_ENST00000504896.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000508946.1_Missense_Mutation_p.N1492K|LPHN3_ENST00000514996.1_Missense_Mutation_p.N1483K|LPHN3_ENST00000507625.1_Missense_Mutation_p.N1508K|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000512091.2_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000545650.1_Missense_Mutation_p.N1449K|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.N1551K|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.N1560K|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1427					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCCTCCAAACAAAGATGGGA	0.473																																						dbGAP											0													57.0	57.0	57.0					4																	62936563		692	1591	2283	-	-	-	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.4347C>A	4.37:g.62936563C>A	ENSP00000422533:p.Asn1449Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.N1508K	ENST00000514591.1	37	c.4524	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.752789|1.752789	0.31046|0.31046	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T|.	0.72394|.	-0.63;-0.63;-0.65;-0.52;-0.53;-0.52;-0.52|.	5.5|5.5	2.76|2.76	0.32466|0.32466	GPCR, family 2, latrophilin, C-terminal (1);|.	0.205916|.	0.50627|.	D|.	0.000105|.	T|T	0.42585|0.42585	0.1209|0.1209	N|N	0.25647|0.25647	0.755|0.755	0.41223|0.41223	D|D	0.986528|0.986528	B;B|.	0.27013|.	0.016;0.166|.	B;B|.	0.28916|.	0.025;0.096|.	T|T	0.15150|0.15150	-1.0447|-1.0447	10|5	0.62326|.	D|.	0.03|.	.|.	9.5086|9.5086	0.39062|0.39062	0.0:0.7498:0.117:0.1331|0.0:0.7498:0.117:0.1331	.|.	1449;1427|.	E9PE04;Q9HAR2|.	.;LPHN3_HUMAN|.	K|K	1449;1449;1427;1508;1492;1560;1551;1483|898	ENSP00000422533:N1449K;ENSP00000439831:N1449K;ENSP00000421372:N1508K;ENSP00000421627:N1492K;ENSP00000420931:N1560K;ENSP00000425884:N1551K;ENSP00000424258:N1483K|.	ENSP00000295349:N1427K|.	N|Q	+|+	3|1	2|0	LPHN3|LPHN3	62619158|62619158	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.995000|0.995000	0.86356|0.86356	1.347000|1.347000	0.33975|0.33975	0.660000|0.660000	0.30964|0.30964	0.591000|0.591000	0.81541|0.81541	AAC|CAA	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000150471		0.473	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	134	0.74	1	C			62936563	62936563	+1	no_errors	ENST00000507625	ensembl	human	known	69_37n	missense	57	27.85	22	SNP	1.000	A
LRRN2	10446	genome.wustl.edu	37	1	204587204	204587204	+	Silent	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:204587204G>C	ENST00000367175.1	-	1	4129	c.1917C>G	c.(1915-1917)gtC>gtG	p.V639V	LRRN2_ENST00000367176.3_Silent_p.V639V|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Silent_p.V639V|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	639					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCAGGAGAAGGACAGCGAGAG	0.647																																						dbGAP											0													43.0	47.0	45.0					1																	204587204		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1917C>G	1.37:g.204587204G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V639	ENST00000367175.1	37	c.1917	CCDS1448.1	1																																																																																			LRRN2	-	NULL	ENSG00000170382		0.647	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	35	0.00	0	G	NM_006338		204587204	204587204	-1	no_errors	ENST00000367175	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.777	C
MAPK8IP3	23162	genome.wustl.edu	37	16	1812723	1812723	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr16:1812723T>C	ENST00000250894.4	+	15	1872	c.1715T>C	c.(1714-1716)aTc>aCc	p.I572T	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.I566T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	572					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGTCGACCATCTGGCAGTTG	0.657																																						dbGAP											0													87.0	100.0	96.0					16																	1812723		2027	4156	6183	-	-	-	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1715T>C	16.37:g.1812723T>C	ENSP00000250894:p.Ile572Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.I572T	ENST00000250894.4	37	c.1715	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096786	0.76870	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.992	D;D;D	0.72625	0.933;0.978;0.978	T	0.43798	-0.9369	10	0.87932	D	0	-36.3899	15.9893	0.80188	0.0:0.0:0.0:1.0	.	573;566;572	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	T	572;566	ENSP00000250894:I572T;ENSP00000348290:I566T	ENSP00000250894:I572T	I	+	2	0	MAPK8IP3	1752724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.913000	0.87471	2.254000	0.74563	0.533000	0.62120	ATC	MAPK8IP3	-	NULL	ENSG00000138834		0.657	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	70	0.00	0	T	NM_001040439		1812723	1812723	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	missense	68	40.35	46	SNP	1.000	C
MARK2	2011	genome.wustl.edu	37	11	63665731	63665731	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr11:63665731G>C	ENST00000509502.2	+	4	680	c.217G>C	c.(217-219)Gtt>Ctt	p.V73L	MARK2_ENST00000361128.5_Missense_Mutation_p.V106L|MARK2_ENST00000315032.8_Missense_Mutation_p.V106L|MARK2_ENST00000508192.1_Missense_Mutation_p.V106L|MARK2_ENST00000350490.7_Missense_Mutation_p.V106L|MARK2_ENST00000377810.3_Missense_Mutation_p.V73L|MARK2_ENST00000502399.3_Missense_Mutation_p.V106L|MARK2_ENST00000413835.2_Missense_Mutation_p.V106L|MARK2_ENST00000425897.2_Missense_Mutation_p.V73L|MARK2_ENST00000408948.3_Missense_Mutation_p.V73L|MARK2_ENST00000377809.4_Missense_Mutation_p.V106L|MARK2_ENST00000402010.2_Missense_Mutation_p.V106L|MARK2_ENST00000513765.2_Missense_Mutation_p.V73L	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATAATGAAGGTTTTGAATCA	0.473																																						dbGAP											0													195.0	189.0	191.0					11																	63665731		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.217G>C	11.37:g.63665731G>C	ENSP00000423974:p.Val73Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.V106L	ENST00000509502.2	37	c.316	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806866	0.16467	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149970	0.43579	D	0.000556	T	0.28134	0.0694	N	0.00583	-1.355	0.45607	D	0.998547	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001	T	0.44590	-0.9318	10	0.05833	T	0.94	.	17.596	0.88012	0.0:0.0:1.0:0.0	.	73;73;106;106;106;106	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	L	106;106;106;106;73;106;106;106;106;73;73;73;73;73;73	ENSP00000385751:V106L;ENSP00000326632:V106L;ENSP00000367040:V106L;ENSP00000389184:V106L;ENSP00000367041:V73L;ENSP00000425765:V106L;ENSP00000355091:V106L;ENSP00000294247:V106L;ENSP00000444956:V73L;ENSP00000437509:V73L;ENSP00000423974:V73L;ENSP00000421075:V73L;ENSP00000386128:V73L;ENSP00000415494:V73L	ENSP00000326632:V106L	V	+	1	0	MARK2	63422307	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.797000	0.26999	2.688000	0.91661	0.563000	0.77884	GTT	MARK2	-	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	ENSG00000072518		0.473	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	365	0.00	0	G	NM_017490		63665731	63665731	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	128	37.25	76	SNP	1.000	C
MCF2	4168	genome.wustl.edu	37	X	138689912	138689912	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chrX:138689912C>T	ENST00000370576.4	-	12	1637	c.1428G>A	c.(1426-1428)gaG>gaA	p.E476E	MCF2_ENST00000370573.4_Silent_p.E476E|MCF2_ENST00000519895.1_Silent_p.E552E|MCF2_ENST00000338585.6_Silent_p.E492E|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000520602.1_Silent_p.E536E|MCF2_ENST00000414978.1_Silent_p.E536E|MCF2_ENST00000536274.1_Silent_p.E437E|MCF2_ENST00000370578.4_Silent_p.E621E	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	476					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AACTTCTCTTCTCCTGACAAT	0.353																																						dbGAP											0													60.0	54.0	56.0					X																	138689912		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1428G>A	X.37:g.138689912C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E621	ENST00000370576.4	37	c.1863	CCDS14667.1	X																																																																																			MCF2	-	NULL	ENSG00000101977		0.353	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	197	0.00	0	C	NM_005369		138689912	138689912	-1	no_errors	ENST00000370578	ensembl	human	known	69_37n	silent	65	32.99	32	SNP	1.000	T
MCHR2	84539	genome.wustl.edu	37	6	100368976	100368976	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:100368976T>C	ENST00000281806.2	-	6	1177	c.863A>G	c.(862-864)tAt>tGt	p.Y288C	MCHR2_ENST00000369212.2_Missense_Mutation_p.Y288C	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGAGAGGTAATAACCCACATA	0.473																																						dbGAP											0													188.0	166.0	173.0					6																	100368976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.863A>G	6.37:g.100368976T>C	ENSP00000281806:p.Tyr288Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt	p.Y288C	ENST00000281806.2	37	c.863	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827813	0.71143	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.73152	-0.72;-0.72;-0.72	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.83243	0.5212	M	0.89534	3.04	0.43874	D	0.996489	D	0.89917	1.0	D	0.97110	1.0	D	0.86937	0.2077	10	0.72032	D	0.01	.	12.6789	0.56910	0.0:0.0:0.0:1.0	.	288	Q969V1	MCHR2_HUMAN	C	288	ENSP00000403490:Y288C;ENSP00000281806:Y288C;ENSP00000358214:Y288C	ENSP00000281806:Y288C	Y	-	2	0	MCHR2	100475697	1.000000	0.71417	0.941000	0.38009	0.981000	0.71138	6.409000	0.73289	1.877000	0.54381	0.533000	0.62120	TAT	MCHR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn	ENSG00000152034		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	341	0.00	0	T	NM_032503		100368976	100368976	-1	no_errors	ENST00000281806	ensembl	human	known	69_37n	missense	324	18.25	73	SNP	1.000	C
MIA3	375056	genome.wustl.edu	37	1	222818914	222818914	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:222818914G>C	ENST00000344922.5	+	7	3521	c.3496G>C	c.(3496-3498)Gat>Cat	p.D1166H	MIA3_ENST00000344441.6_Missense_Mutation_p.D1166H|MIA3_ENST00000340535.7_Missense_Mutation_p.D44H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1166					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TACATTGCCTGATGATGTTCA	0.388																																						dbGAP											0													211.0	179.0	189.0					1																	222818914		1877	4108	5985	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3496G>C	1.37:g.222818914G>C	ENSP00000340900:p.Asp1166His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.D1166H	ENST00000344922.5	37	c.3496	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.508843|4.508843	0.85282|0.85282	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.44881|.	0.91;0.91;0.91|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|.	.|.	.|.	.|.	T|.	0.82139|.	0.4972|.	M|M	0.80746|0.80746	2.51|2.51	0.46241|0.46241	D|D	0.998945|0.998945	D;D;D|.	0.89917|.	1.0;0.973;0.999|.	D;P;P|.	0.76575|.	0.988;0.896;0.907|.	T|.	0.81614|.	-0.0853|.	9|.	0.87932|.	D|.	0|.	.|.	19.9712|19.9712	0.97285|0.97285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1166;44;1166|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	H|S	1166;1166;1166;44;44|748	ENSP00000340900:D1166H;ENSP00000340587:D1166H;ENSP00000345866:D44H|.	ENSP00000284471:D44H|.	D|X	+|+	1|2	0|2	MIA3|MIA3	220885537|220885537	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.956000|0.956000	0.61745|0.61745	7.727000|7.727000	0.84838|0.84838	2.726000|2.726000	0.93360|0.93360	0.591000|0.591000	0.81541|0.81541	GAT|TGA	MIA3	-	NULL	ENSG00000154305		0.388	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	774	0.13	1	G	NM_198551		222818914	222818914	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	462	44.28	368	SNP	1.000	C
MUC12	10071	genome.wustl.edu	37	7	100635586	100635586	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr7:100635586A>T	ENST00000379442.3	+	5	2171	c.2171A>T	c.(2170-2172)cAc>cTc	p.H724L	MUC12_ENST00000536621.1_Missense_Mutation_p.H581L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	724	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACTACCTTCCACAGCCGCCCA	0.552																																						dbGAP											0													266.0	297.0	287.0					7																	100635586		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.2171A>T	7.37:g.100635586A>T	ENSP00000368755:p.His724Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.H724L	ENST00000379442.3	37	c.2171		7	.	.	.	.	.	.	.	.	.	.	-	0.597	-0.830635	0.02734	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11930	2.73;2.73	0.695	-0.687	0.11320	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42241	-0.9463	7	0.25751	T	0.34	.	4.9234	0.13882	0.6181:0.3819:0.0:0.0	.	.	.	.	L	724;581	ENSP00000368755:H724L;ENSP00000441929:H581L	ENSP00000368755:H724L	H	+	2	0	MUC12	100422306	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.049000	0.11924	-0.162000	0.10964	-1.686000	0.00732	CAC	MUC12	-	NULL	ENSG00000205277		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	961	0.00	0	A	XM_379904		100635586	100635586	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	559	25.20	191	SNP	0.002	T
KMT2C	58508	genome.wustl.edu	37	7	151945140	151945140	+	Silent	SNP	C	C	T	rs57648310	byFrequency	TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr7:151945140C>T	ENST00000262189.6	-	14	2597	c.2379G>A	c.(2377-2379)tcG>tcA	p.S793S	KMT2C_ENST00000355193.2_Silent_p.S793S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	793					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCATGTCATGCGAAGGCAAGT	0.433																																						dbGAP											0													483.0	434.0	451.0					7																	151945140		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2379G>A	7.37:g.151945140C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S793	ENST00000262189.6	37	c.2379	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	670	0.15	1	C			151945140	151945140	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	silent	347	16.79	70	SNP	0.042	T
NCF2	4688	genome.wustl.edu	37	1	183543637	183543637	+	Silent	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:183543637C>G	ENST00000367535.3	-	4	737	c.486G>C	c.(484-486)gcG>gcC	p.A162A	NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Silent_p.A162A	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	162					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CACACTCCATCGCCTTGTCGA	0.463																																						dbGAP											0													344.0	312.0	323.0					1																	183543637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.486G>C	1.37:g.183543637C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.A162	ENST00000367535.3	37	c.486	CCDS1356.1	1																																																																																			NCF2	-	NULL	ENSG00000116701		0.463	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	386	0.00	0	C	NM_000433		183543637	183543637	-1	no_errors	ENST00000367535	ensembl	human	known	69_37n	silent	501	12.50	72	SNP	1.000	G
NFE2L1	4779	genome.wustl.edu	37	17	46136186	46136186	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr17:46136186C>T	ENST00000362042.3	+	6	2118	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S471F|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S345F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S313F|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S302F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S471F|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S490F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	501	Poly-Ser.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						tcctcttcttcctcctcctct	0.527																																						dbGAP											0													80.0	79.0	80.0					17																	46136186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1502C>T	17.37:g.46136186C>T	ENSP00000354855:p.Ser501Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S501F	ENST00000362042.3	37	c.1502	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461157	0.26248	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;T;T	0.95885	-3.84;0.71;0.71	5.16	4.13	0.48395	.	0.087525	0.46442	D	0.000289	D	0.95931	0.8675	L	0.43152	1.355	0.38168	D	0.939239	P;B;P;D	0.67145	0.729;0.38;0.828;0.996	B;B;B;D	0.74023	0.371;0.135;0.371;0.982	D	0.96198	0.9143	10	0.66056	D	0.02	-8.7317	12.286	0.54793	0.0:0.8284:0.1716:0.0	.	345;313;471;501	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	F	520;501;471;345	ENSP00000355190:S501F;ENSP00000350072:S471F;ENSP00000445811:S345F	ENSP00000350072:S471F	S	+	2	0	NFE2L1	43491185	0.936000	0.31750	0.563000	0.28383	0.312000	0.27988	2.736000	0.47385	2.581000	0.87130	0.563000	0.77884	TCC	NFE2L1	-	NULL	ENSG00000082641		0.527	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	208	0.00	0	C	NM_003204		46136186	46136186	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	missense	46	70.91	117	SNP	0.774	T
OBSCN	84033	genome.wustl.edu	37	1	228559643	228559643	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:228559643C>A	ENST00000422127.1	+	94	21208	c.21164C>A	c.(21163-21165)cCa>cAa	p.P7055Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.P8012Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4689Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7055	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGTTGCCCCATGCCCTCCT	0.687																																						dbGAP											0													31.0	33.0	32.0					1																	228559643		1907	4111	6018	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21164C>A	1.37:g.228559643C>A	ENSP00000409493:p.Pro7055Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P7055Q	ENST00000422127.1	37	c.21164	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432385	0.43224	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62105	0.08;0.05	2.77	0.652	0.17823	.	1819.030000	0.00166	N	0.000000	T	0.41926	0.1180	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.32864	0.154	T	0.52616	-0.8552	10	0.87932	D	0	.	2.6496	0.04995	0.0:0.4405:0.2709:0.2886	.	7055	Q5VST9	OBSCN_HUMAN	Q	7055;4689	ENSP00000409493:P7055Q;ENSP00000355668:P4689Q	ENSP00000355668:P4689Q	P	+	2	0	OBSCN	226626266	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.170000	0.16663	1.401000	0.46761	0.455000	0.32223	CCA	OBSCN	-	NULL	ENSG00000154358		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		49	0.00	0	C	NM_052843		228559643	228559643	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.000	A
OPRM1	4988	genome.wustl.edu	37	6	154412258	154412258	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:154412258A>G	ENST00000330432.7	+	3	1052	c.815A>G	c.(814-816)gAa>gGa	p.E272G	OPRM1_ENST00000518759.1_Missense_Mutation_p.E191G|OPRM1_ENST00000360422.4_Missense_Mutation_p.E272G|OPRM1_ENST00000419506.2_Missense_Mutation_p.E272G|OPRM1_ENST00000520708.1_Missense_Mutation_p.E172G|OPRM1_ENST00000522555.1_Missense_Mutation_p.E172G|OPRM1_ENST00000434900.2_Missense_Mutation_p.E365G|OPRM1_ENST00000337049.4_Missense_Mutation_p.E272G|OPRM1_ENST00000435918.2_Missense_Mutation_p.E272G|OPRM1_ENST00000414028.2_Missense_Mutation_p.E272G|OPRM1_ENST00000428397.2_Missense_Mutation_p.E272G|OPRM1_ENST00000524163.1_Missense_Mutation_p.E272G|OPRM1_ENST00000452687.2_Missense_Mutation_p.E272G|OPRM1_ENST00000229768.5_Missense_Mutation_p.E272G|OPRM1_ENST00000522236.1_Missense_Mutation_p.E172G	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	272					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGCTCCAAAGAAAAGGACAGG	0.488																																						dbGAP											0													153.0	162.0	159.0					6																	154412258		2199	4298	6497	-	-	-	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.815A>G	6.37:g.154412258A>G	ENSP00000328264:p.Glu272Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.E365G	ENST00000330432.7	37	c.1094	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662224	0.88251	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.998;0.997;0.999;1.0;0.992;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.996;0.999;0.996;0.981;0.981;0.996;0.998;0.939;0.996;0.996	T	0.82099	-0.0625	10	0.87932	D	0	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	272;272;272;272;365;191;172;272;272;272;272;272	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	G	365;172;191;272;272;272;272;272;272;272;272;272;272;172;172	ENSP00000394624:E365G;ENSP00000430876:E172G;ENSP00000430260:E191G;ENSP00000328264:E272G;ENSP00000353598:E272G;ENSP00000411903:E272G;ENSP00000410497:E272G;ENSP00000229768:E272G;ENSP00000403549:E272G;ENSP00000430097:E272G;ENSP00000399359:E272G;ENSP00000413752:E272G;ENSP00000338381:E272G;ENSP00000429719:E172G;ENSP00000429373:E172G	ENSP00000229768:E272G	E	+	2	0	OPRM1	154453951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	GAA	OPRM1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt	ENSG00000112038		0.488	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	431	0.00	0	A	NM_000914		154412258	154412258	+1	no_errors	ENST00000434900	ensembl	human	known	69_37n	missense	352	36.28	201	SNP	1.000	G
PAX1	5075	genome.wustl.edu	37	20	21687302	21687302	+	Silent	SNP	C	C	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr20:21687302C>A	ENST00000398485.2	+	2	567	c.513C>A	c.(511-513)cgC>cgA	p.R171R	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.R147R	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	171	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAAGCCCCGCGTCACCACTC	0.672																																						dbGAP											0													53.0	56.0	55.0					20																	21687302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.513C>A	20.37:g.21687302C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R171	ENST00000398485.2	37	c.513	CCDS13146.2	20																																																																																			PAX1	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000125813		0.672	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	15	0.00	0	C			21687302	21687302	+1	no_errors	ENST00000398485	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.131	A
PCDHGA1	56114	genome.wustl.edu	37	5	140712321	140712321	+	Silent	SNP	T	T	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr5:140712321T>A	ENST00000517417.1	+	1	2070	c.2070T>A	c.(2068-2070)acT>acA	p.T690T	PCDHGA1_ENST00000378105.3_Silent_p.T690T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	690					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACCTCACTCTGTACCTGG	0.677																																						dbGAP											0													73.0	85.0	81.0					5																	140712321		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2070T>A	5.37:g.140712321T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T690	ENST00000517417.1	37	c.2070	CCDS54922.1	5																																																																																			PCDHGA1	-	NULL	ENSG00000204956		0.677	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	120	0.00	0	T	NM_018912		140712321	140712321	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	silent	106	13.01	16	SNP	0.061	A
PCNT	5116	genome.wustl.edu	37	21	47841991	47841992	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr21:47841991_47841992insCA	ENST00000359568.5	+	32	7239_7240	c.7132_7133insCA	c.(7132-7134)ctgfs	p.L2378fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2378					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTTCAGCCGCTGCCGGAAGCC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	Exception_encountered	21.37:g.47841991_47841992insCA	ENSP00000352572:p.Leu2378fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Frame_Shift_Ins	INS	pfam_PACT_domain	p.L2378fs	ENST00000359568.5	37	c.7132_7133	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.619	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	76	0.00	0	-	NM_006031		47841991	47841992	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	frame_shift_ins	78	17.02	16	INS	0.000:0.000	CA
ZIM2	23619	genome.wustl.edu	37	19	57286204	57286204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr19:57286204G>T	ENST00000391708.3	-	12	1978	c.1436C>A	c.(1435-1437)tCa>tAa	p.S479*	ZIM2_ENST00000599935.1_Nonsense_Mutation_p.S479*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.S479*|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.S479*|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.S479*	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AATGAGATATGAATTCCGACT	0.463																																						dbGAP											0													88.0	77.0	81.0					19																	57286204		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1436C>A	19.37:g.57286204G>T	ENSP00000375589:p.Ser479*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3K1	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S479*	ENST00000391708.3	37	c.1436	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031260	0.93575	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7545	0.78013	0.0:0.0:1.0:0.0	.	.	.	.	X	479	.	ENSP00000221722:S479X	S	-	2	0	ZIM2	61978016	0.000000	0.05858	0.021000	0.16686	0.064000	0.16182	0.887000	0.28254	2.575000	0.86900	0.655000	0.94253	TCA	PEG3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416094.2	129	0.00	0	G			57286204	57286204	-1	no_errors	ENST00000221722	ensembl	human	known	69_37n	nonsense	134	35.89	75	SNP	0.040	T
PLXNB2	23654	genome.wustl.edu	37	22	50717396	50717396	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr22:50717396C>T	ENST00000449103.1	-	28	4574	c.4434G>A	c.(4432-4434)ccG>ccA	p.P1478P	PLXNB2_ENST00000359337.4_Silent_p.P1478P			O15031	PLXB2_HUMAN	plexin B2	1478					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACCTTCACCGGGATGGCGT	0.617																																						dbGAP											0													120.0	123.0	122.0					22																	50717396		2199	4299	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4434G>A	22.37:g.50717396C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P1478	ENST00000449103.1	37	c.4434	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	83	0.00	0	C	NM_012401		50717396	50717396	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	silent	88	36.81	53	SNP	0.000	T
PMFBP1	83449	genome.wustl.edu	37	16	72198814	72198814	+	Splice_Site	SNP	G	G	A	rs201822645		TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr16:72198814G>A	ENST00000237353.10	-	3	275	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PMFBP1_ENST00000537465.1_Splice_Site_p.A5V|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	5						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTCTCCCCCGCCTAGGCAGC	0.443																																						dbGAP											0													46.0	45.0	45.0					16																	72198814		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.13-1C>T	16.37:g.72198814G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.A5V	ENST00000237353.10	37	c.14	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	G	5.231	0.228126	0.09916	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172;ENST00000536211;ENST00000540440	T;T	0.10192	2.9;2.9	6.06	-5.89	0.02282	.	0.914131	0.09216	N	0.832518	T	0.04543	0.0124	N	0.08118	0	0.31157	N	0.704806	B;B	0.14012	0.009;0.009	B;B	0.06405	0.002;0.002	T	0.49643	-0.8918	10	0.02654	T	1	-0.0033	16.1825	0.81920	0.8549:0.0:0.1451:0.0	.	5;5	Q8TBY8-2;G3V1Q7	.;.	V	5	ENSP00000443817:A5V;ENSP00000237353:A5V	ENSP00000237353:A5V	A	-	2	0	PMFBP1	70756315	0.000000	0.05858	0.001000	0.08648	0.974000	0.67602	-1.671000	0.01954	-1.424000	0.01999	0.655000	0.94253	GCG	PMFBP1	-	NULL	ENSG00000118557		0.443	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	82	0.00	0	G	NM_031293	Missense_Mutation	72198814	72198814	-1	no_errors	ENST00000537465	ensembl	human	known	69_37n	missense	103	27.59	40	SNP	0.003	A
PROSC	11212	genome.wustl.edu	37	8	37632889	37632889	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr8:37632889delG	ENST00000328195.3	+	6	554	c.487delG	c.(487-489)gccfs	p.A163fs		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	163					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGAGACCATAGCCATCGTGGA	0.473																																						dbGAP											0													216.0	205.0	209.0					8																	37632889		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.487delG	8.37:g.37632889delG	ENSP00000333551:p.Ala163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI94	Frame_Shift_Del	DEL	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.A163fs	ENST00000328195.3	37	c.487	CCDS6096.1	8																																																																																			PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	ENSG00000147471		0.473	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	284	0.00	0	G	NM_007198		37632889	37632889	+1	no_errors	ENST00000328195	ensembl	human	known	69_37n	frame_shift_del	213	22.58	63	DEL	0.003	-
SAMD3	154075	genome.wustl.edu	37	6	130475973	130475973	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:130475973A>C	ENST00000368134.2	-	11	1628	c.1020T>G	c.(1018-1020)taT>taG	p.Y340*	SAMD3_ENST00000457563.2_Nonsense_Mutation_p.Y364*|SAMD3_ENST00000439090.2_Nonsense_Mutation_p.Y340*|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.Y340*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	340										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGATACCTGATAAGGGCACT	0.289																																						dbGAP											0													52.0	48.0	49.0					6																	130475973		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1020T>G	6.37:g.130475973A>C	ENSP00000357116:p.Tyr340*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Y340*	ENST00000368134.2	37	c.1020	CCDS34539.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	41|41	9.054272|9.054272	0.99050|0.99050	.|.	.|.	ENSG00000164483|ENSG00000164483	ENST00000463253|ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	.|.	.|.	.|.	5.45|5.45	2.59|2.59	0.31030|0.31030	.|.	.|0.548025	.|0.17881	.|N	.|0.158862	T|.	0.06096|.	0.0158|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39563|.	-0.9608|.	4|.	.|0.02654	.|T	.|1	.|.	1.7578|1.7578	0.02986|0.02986	0.581:0.1579:0.1087:0.1524|0.581:0.1579:0.1087:0.1524	.|.	.|.	.|.	.|.	S|X	9|340;364;340;340	.|.	.|ENSP00000357116:Y340X	I|Y	-|-	2|3	0|2	SAMD3|SAMD3	130517666|130517666	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	0.781000|0.781000	0.26774|0.26774	0.253000|0.253000	0.21552|0.21552	0.460000|0.460000	0.39030|0.39030	ATC|TAT	SAMD3	-	NULL	ENSG00000164483		0.289	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	159	0.00	0	A	NM_152552		130475973	130475973	-1	no_errors	ENST00000368134	ensembl	human	known	69_37n	nonsense	101	35.26	55	SNP	1.000	C
RGS17	26575	genome.wustl.edu	37	6	153332893	153332893	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:153332893C>G	ENST00000367225.2	-	4	473	c.449G>C	c.(448-450)aGt>aCt	p.S150T	RGS17_ENST00000206262.1_Missense_Mutation_p.S150T			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AGAATCAAGACTGACCTAAAA	0.318																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	dbGAP											0													42.0	42.0	42.0					6																	153332893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.449G>C	6.37:g.153332893C>G	ENSP00000356194:p.Ser150Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S150T	ENST00000367225.2	37	c.449	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419177	0.62622	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.31769	1.48;1.48	5.33	5.33	0.75918	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	H	0.95079	3.62	0.80722	D	1	B	0.25048	0.117	B	0.27887	0.084	T	0.53906	-0.8372	10	0.54805	T	0.06	-19.6825	19.4416	0.94823	0.0:1.0:0.0:0.0	.	150	Q9UGC6	RGS17_HUMAN	T	150	ENSP00000356194:S150T;ENSP00000206262:S150T	ENSP00000206262:S150T	S	-	2	0	RGS17	153374586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.672000	0.90937	0.551000	0.68910	AGT	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000091844		0.318	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	215	0.00	0	C			153332893	153332893	-1	no_errors	ENST00000206262	ensembl	human	known	69_37n	missense	121	19.87	30	SNP	1.000	G
SERTAD3	29946	genome.wustl.edu	37	19	40947491	40947491	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr19:40947491G>A	ENST00000322354.3	-	2	993	c.497C>T	c.(496-498)gCc>gTc	p.A166V	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.A166V|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	166					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTGGTGGGGCCCGTGCAGG	0.527																																						dbGAP											0													80.0	87.0	84.0					19																	40947491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.497C>T	19.37:g.40947491G>A	ENSP00000325414:p.Ala166Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQB3|Q96CQ2	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.A166V	ENST00000322354.3	37	c.497	CCDS12558.1	19	.	.	.	.	.	.	.	.	.	.	G	8.031	0.761690	0.15914	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	4.96	0.65561	.	0.472859	0.18952	N	0.126678	T	0.21347	0.0514	N	0.08118	0	0.09310	N	0.999999	P	0.39665	0.682	B	0.40329	0.326	T	0.09885	-1.0654	9	0.33141	T	0.24	1.5264	11.5414	0.50669	0.0839:0.0:0.9161:0.0	.	166	Q9UJW9	SRTD3_HUMAN	V	166	.	ENSP00000325414:A166V	A	-	2	0	SERTAD3	45639331	0.003000	0.15002	0.351000	0.25721	0.186000	0.23388	1.298000	0.33412	2.848000	0.98002	0.655000	0.94253	GCC	SERTAD3	-	NULL	ENSG00000167565		0.527	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	126	0.00	0	G	NM_013368		40947491	40947491	-1	no_errors	ENST00000322354	ensembl	human	known	69_37n	missense	102	17.60	22	SNP	0.246	A
SI	6476	genome.wustl.edu	37	3	164727132	164727132	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr3:164727132C>G	ENST00000264382.3	-	35	4176	c.4114G>C	c.(4114-4116)Gag>Cag	p.E1372Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1372	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCCCACCACTCTGCTGTGGAA	0.383										HNSCC(35;0.089)																												dbGAP											0													85.0	86.0	86.0					3																	164727132		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4114G>C	3.37:g.164727132C>G	ENSP00000264382:p.Glu1372Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E1372Q	ENST00000264382.3	37	c.4114	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	0.776	-0.763914	0.02996	.	.	ENSG00000090402	ENST00000264382	D	0.93366	-3.21	4.51	2.39	0.29439	Glycoside hydrolase, superfamily (1);	0.761351	0.12426	N	0.470035	D	0.87079	0.6088	L	0.33293	1	0.33577	D	0.599356	B	0.06786	0.001	B	0.13407	0.009	T	0.79659	-0.1711	10	0.20046	T	0.44	.	7.3163	0.26503	0.0:0.5892:0.3018:0.109	.	1372	P14410	SUIS_HUMAN	Q	1372	ENSP00000264382:E1372Q	ENSP00000264382:E1372Q	E	-	1	0	SI	166209826	0.000000	0.05858	0.864000	0.33941	0.301000	0.27625	0.189000	0.17037	0.340000	0.23745	0.491000	0.48974	GAG	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	337	0.30	1	C	NM_001041		164727132	164727132	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	269	19.70	66	SNP	0.902	G
SLC18A2	6571	genome.wustl.edu	37	10	119017348	119017348	+	Silent	SNP	G	G	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr10:119017348G>A	ENST00000298472.5	+	10	1079	c.936G>A	c.(934-936)gaG>gaA	p.E312E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	312					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCATGCTGGAGCCAGCCCTGC	0.557																																						dbGAP											0													88.0	77.0	81.0					10																	119017348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.936G>A	10.37:g.119017348G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E312	ENST00000298472.5	37	c.936	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.557	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	72	0.00	0	G	NM_003054		119017348	119017348	+1	no_errors	ENST00000298472	ensembl	human	known	69_37n	silent	52	16.13	10	SNP	1.000	A
SLC2A2	6514	genome.wustl.edu	37	3	170715731	170715731	+	Silent	SNP	A	A	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr3:170715731A>C	ENST00000314251.3	-	11	1615	c.1536T>G	c.(1534-1536)gcT>gcG	p.A512A	RNU1-70P_ENST00000362618.1_RNA|SLC2A2_ENST00000382808.4_Silent_p.A393A	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	512					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TCATTTCTACAGCAGCTTTTG	0.383																																						dbGAP											0													72.0	78.0	76.0					3																	170715731		2197	4293	6490	-	-	-	SO:0001819	synonymous_variant	0			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1536T>G	3.37:g.170715731A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt	p.A512	ENST00000314251.3	37	c.1536	CCDS3215.1	3																																																																																			SLC2A2	-	NULL	ENSG00000163581		0.383	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	HGNC	protein_coding	OTTHUMT00000352834.1	57	0.00	0	A	NM_000340		170715731	170715731	-1	no_errors	ENST00000314251	ensembl	human	known	69_37n	silent	43	14.00	7	SNP	0.000	C
SLC38A9	153129	genome.wustl.edu	37	5	54965418	54965418	+	Silent	SNP	T	T	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr5:54965418T>C	ENST00000396865.2	-	6	990	c.399A>G	c.(397-399)acA>acG	p.T133T	SLC38A9_ENST00000515629.1_Silent_p.T70T|SLC38A9_ENST00000512595.1_Silent_p.T106T|SLC38A9_ENST00000318672.3_Silent_p.T133T|SLC38A9_ENST00000539768.1_Silent_p.T133T|SLC38A9_ENST00000416547.2_Silent_p.T9T	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	133					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTAGTATAGATGTTCCCATCA	0.294																																						dbGAP											0													111.0	119.0	116.0					5																	54965418		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.399A>G	5.37:g.54965418T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	pfam_AA_transpt_TM	p.T133	ENST00000396865.2	37	c.399	CCDS3968.1	5																																																																																			SLC38A9	-	pfam_AA_transpt_TM	ENSG00000177058		0.294	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	480	0.00	0	T	NM_173514		54965418	54965418	-1	no_errors	ENST00000318672	ensembl	human	known	69_37n	silent	204	29.41	85	SNP	1.000	C
SLCO6A1	133482	genome.wustl.edu	37	5	101834402	101834402	+	Silent	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr5:101834402C>T	ENST00000506729.1	-	1	318	c.147G>A	c.(145-147)cgG>cgA	p.R49R	SLCO6A1_ENST00000379810.1_Silent_p.R49R|SLCO6A1_ENST00000379807.3_Silent_p.R49R|SLCO6A1_ENST00000389019.3_Silent_p.R49R|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Silent_p.R49R|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTCTCAGATACCGGTGTTTTT	0.577																																						dbGAP											0													148.0	165.0	159.0					5																	101834402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.147G>A	5.37:g.101834402C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R49	ENST00000506729.1	37	c.147	CCDS34206.1	5																																																																																			SLCO6A1	-	NULL	ENSG00000205359		0.577	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	129	0.00	0	C	NM_173488		101834402	101834402	-1	no_errors	ENST00000379807	ensembl	human	known	69_37n	silent	104	25.00	35	SNP	0.000	T
SPIRE1	56907	genome.wustl.edu	37	18	12452354	12452354	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr18:12452354T>C	ENST00000409402.4	-	16	2179	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V	SPIRE1_ENST00000309836.5_Missense_Mutation_p.I427V|SPIRE1_ENST00000410092.3_Missense_Mutation_p.I624V|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.I504V	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AATGAAAAGATAGGAAGAGTG	0.478																																						dbGAP											0													88.0	82.0	84.0					18																	12452354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1912A>G	18.37:g.12452354T>C	ENSP00000387266:p.Ile638Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.I638V	ENST00000409402.4	37	c.1912	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	T	7.491	0.650733	0.14516	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	T;T;T;T	0.34859	1.34;2.03;1.94;1.39	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	N	0.17345	0.48	0.80722	D	1	B;B;B	0.32939	0.027;0.354;0.391	B;B;P	0.44597	0.023;0.138;0.454	T	0.05225	-1.0898	10	0.02654	T	1	-20.7341	15.9788	0.80091	0.0:0.0:0.0:1.0	.	624;427;638	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	V	504;638;624;427	ENSP00000407050:I504V;ENSP00000387266:I638V;ENSP00000387226:I624V;ENSP00000309661:I427V	ENSP00000309661:I427V	I	-	1	0	SPIRE1	12442354	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	5.756000	0.68757	2.169000	0.68431	0.533000	0.62120	ATC	SPIRE1	-	NULL	ENSG00000134278		0.478	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	174	0.00	0	T	XM_290818		12452354	12452354	-1	no_errors	ENST00000409402	ensembl	human	known	69_37n	missense	108	47.12	98	SNP	1.000	C
SOCS6	9306	genome.wustl.edu	37	18	67992965	67992965	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr18:67992965T>A	ENST00000397942.3	+	2	1377	c.1061T>A	c.(1060-1062)gTt>gAt	p.V354D	SOCS6_ENST00000582322.1_Missense_Mutation_p.V354D	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	354					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCTCCTGGGGTTGCAAGAGTT	0.478																																					Melanoma(84;1024 1361 24382 36583 42651)	dbGAP											0													75.0	72.0	73.0					18																	67992965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1061T>A	18.37:g.67992965T>A	ENSP00000381034:p.Val354Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.V354D	ENST00000397942.3	37	c.1061	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192870	0.78902	.	.	ENSG00000170677	ENST00000397942	T	0.27256	1.68	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	T	0.29423	0.0733	L	0.32530	0.975	0.80722	D	1	D	0.60575	0.988	P	0.49752	0.621	T	0.04307	-1.0961	10	0.66056	D	0.02	-11.1271	15.0824	0.72125	0.0:0.0:0.0:1.0	.	354	O14544	SOCS6_HUMAN	D	354	ENSP00000381034:V354D	ENSP00000381034:V354D	V	+	2	0	SOCS6	66143945	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.092000	0.71414	1.966000	0.57179	0.459000	0.35465	GTT	SOCS6	-	NULL	ENSG00000170677		0.478	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	259	0.00	0	T			67992965	67992965	+1	no_errors	ENST00000397942	ensembl	human	known	69_37n	missense	97	43.27	74	SNP	1.000	A
SPPL3	121665	genome.wustl.edu	37	12	121248621	121248621	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr12:121248621C>T	ENST00000353487.2	-	2	595	c.92G>A	c.(91-93)gGt>gAt	p.G31D		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	31						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGAAACTACCATAGACTAT	0.383																																						dbGAP											0													108.0	112.0	111.0					12																	121248621		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.92G>A	12.37:g.121248621C>T	ENSP00000288680:p.Gly31Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.G31D	ENST00000353487.2	37	c.92	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803304	0.70682	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.31247	1.5	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.80028	2.48	0.80722	D	1	B;B	0.26845	0.097;0.161	B;B	0.27380	0.079;0.039	T	0.44205	-0.9343	10	0.87932	D	0	-3.0163	17.6966	0.88283	0.0:1.0:0.0:0.0	.	31;31	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	D	31;30	ENSP00000288680:G31D	ENSP00000288680:G31D	G	-	2	0	AC069214.1	119733004	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.643000	0.74334	2.716000	0.92895	0.563000	0.77884	GGT	SPPL3	-	NULL	ENSG00000157837		0.383	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	451	0.22	1	C	NM_139015		121248621	121248621	-1	no_errors	ENST00000353487	ensembl	human	known	69_37n	missense	77	74.75	228	SNP	1.000	T
TADA2B	93624	genome.wustl.edu	37	4	7056404	7056404	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr4:7056404C>G	ENST00000310074.7	+	2	1075	c.886C>G	c.(886-888)Cga>Gga	p.R296G	TADA2B_ENST00000515646.1_Missense_Mutation_p.R204G|TADA2B_ENST00000512388.1_Missense_Mutation_p.R221G	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	296					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCGGTACCGGCGAAACGGGAT	0.512																																						dbGAP											0													45.0	52.0	50.0					4																	7056404		1999	4162	6161	-	-	-	SO:0001583	missense	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.886C>G	4.37:g.7056404C>G	ENSP00000308022:p.Arg296Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.R296G	ENST00000310074.7	37	c.886	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134446	0.56828	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.42513	0.97;0.97;0.97	4.96	4.96	0.65561	.	.	.	.	.	T	0.50154	0.1599	M	0.72353	2.195	0.80722	D	1	P;P	0.43094	0.759;0.799	B;B	0.43990	0.438;0.312	T	0.52823	-0.8524	9	0.38643	T	0.18	-28.2733	18.2471	0.89989	0.0:1.0:0.0:0.0	.	221;296	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	G	296;221;204	ENSP00000308022:R296G;ENSP00000423947:R221G;ENSP00000423181:R204G	ENSP00000308022:R296G	R	+	1	2	TADA2B	7107305	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.579000	0.46059	2.307000	0.77673	0.561000	0.74099	CGA	TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.512	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	103	0.00	0	C	NM_152293		7056404	7056404	+1	no_errors	ENST00000310074	ensembl	human	known	69_37n	missense	22	75.28	67	SNP	1.000	G
THBS1	7057	genome.wustl.edu	37	15	39880727	39880727	+	Splice_Site	SNP	T	T	A			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr15:39880727T>A	ENST00000260356.5	+	10	1637	c.1472T>A	c.(1471-1473)aTc>aAc	p.I491N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	491					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTTCTTACAGTCAATGGAGGC	0.498																																						dbGAP											0													57.0	57.0	57.0					15																	39880727		2200	4297	6497	-	-	-	SO:0001630	splice_region_variant	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1472-1T>A	15.37:g.39880727T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.I491N	ENST00000260356.5	37	c.1472	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624821	0.87560	.	.	ENSG00000137801	ENST00000260356	T	0.61627	0.09	5.87	5.87	0.94306	.	0.000000	0.36591	N	0.002518	T	0.76800	0.4038	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.79401	-0.1819	9	.	.	.	.	16.2577	0.82525	0.0:0.0:0.0:1.0	.	491	P07996	TSP1_HUMAN	N	491	ENSP00000260356:I491N	.	I	+	2	0	THBS1	37668019	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.036000	0.88901	2.236000	0.73375	0.533000	0.62120	ATC	THBS1	-	superfamily_Thrombospondin_1_rpt	ENSG00000137801		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	65	0.00	0	T	NM_003246	Missense_Mutation	39880727	39880727	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	missense	53	33.75	27	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7579458	7579459	+	Frame_Shift_Ins	INS	-	-	TGCA			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr17:7579458_7579459insTGCA	ENST00000269305.4	-	4	417_418	c.228_229insTGCA	c.(226-231)gcaccafs	p.P77fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.P77fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P77fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P77fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P77fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P77fs	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	77	Interaction with HRMT1L2.|Interaction with WWOX.		P -> A (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.P77A(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.P77fs*71(1)|p.D48fs*55(1)|p.P77fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A76A(1)|p.A74fs*71(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)	GGAGCTGCTGGTGCAGGGGCCA	0.619		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"""	27	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - Missense(3)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|bone(4)|central_nervous_system(3)|lung(2)|breast(2)|prostate(2)|stomach(1)|urinary_tract(1)|liver(1)																																								-	-	-	SO:0001589	frameshift_variant	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.225_228dupTGCA	17.37:g.7579459_7579462dupTGCA	ENSP00000269305:p.Pro77fs	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	Frame_Shift_Ins	INS	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.P76fs	ENST00000269305.4	37	c.229_228	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	39	0.00	0	-	NM_000546		7579458	7579459	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	22	54.17	26	INS	0.000:0.000	TGCA
TULP4	56995	genome.wustl.edu	37	6	158915879	158915879	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr6:158915879G>T	ENST00000367097.3	+	11	3227		c.e11+1		TULP4_ENST00000367094.2_Splice_Site	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCGGTGCAGGTAAAAATCAT	0.448																																						dbGAP											0													110.0	101.0	104.0					6																	158915879		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1870+1G>T	6.37:g.158915879G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Splice_Site	SNP	-	e11+1	ENST00000367097.3	37	c.1870+1	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044910	0.93685	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.534	0.95242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TULP4	158835867	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.121000	0.94375	2.613000	0.88420	0.655000	0.94253	.	TULP4	-	-	ENSG00000130338		0.448	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	248	0.80	2	G	NM_020245	Intron	158915879	158915879	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	splice_site	105	53.91	124	SNP	1.000	T
UBE3C	9690	genome.wustl.edu	37	7	157016026	157016026	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr7:157016026C>T	ENST00000348165.5	+	16	2441	c.2081C>T	c.(2080-2082)cCa>cTa	p.P694L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	694					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTGTGGTTCCATTTGAGGAA	0.418																																						dbGAP											0													179.0	158.0	165.0					7																	157016026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2081C>T	7.37:g.157016026C>T	ENSP00000309198:p.Pro694Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.P694L	ENST00000348165.5	37	c.2081	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084938	0.55861	.	.	ENSG00000009335	ENST00000348165	T	0.53857	0.6	5.08	5.08	0.68730	.	0.052923	0.85682	D	0.000000	T	0.73401	0.3582	M	0.86740	2.835	0.80722	D	1	P;P	0.51057	0.941;0.763	P;P	0.56343	0.796;0.526	T	0.79692	-0.1697	10	0.87932	D	0	.	18.4415	0.90667	0.0:1.0:0.0:0.0	.	694;547	Q15386;B4DHJ9	UBE3C_HUMAN;.	L	694	ENSP00000309198:P694L	ENSP00000309198:P694L	P	+	2	0	UBE3C	156708787	1.000000	0.71417	0.796000	0.32109	0.885000	0.51271	5.551000	0.67274	2.351000	0.79841	0.585000	0.79938	CCA	UBE3C	-	NULL	ENSG00000009335		0.418	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	375	0.00	0	C	NM_014671		157016026	157016026	+1	no_errors	ENST00000348165	ensembl	human	known	69_37n	missense	211	26.74	77	SNP	0.998	T
UGGT2	55757	genome.wustl.edu	37	13	96536771	96536771	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr13:96536771C>G	ENST00000376747.3	-	27	3272	c.3202G>C	c.(3202-3204)Gac>Cac	p.D1068H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1068					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTATCAAGGTCACAGTTGCTG	0.363																																						dbGAP											0													87.0	84.0	85.0					13																	96536771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3202G>C	13.37:g.96536771C>G	ENSP00000365938:p.Asp1068His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.D1068H	ENST00000376747.3	37	c.3202	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748648	0.89753	.	.	ENSG00000102595	ENST00000376747	T	0.70164	-0.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90398	0.4400	10	0.87932	D	0	-18.9022	19.8575	0.96767	0.0:1.0:0.0:0.0	.	1068;1068	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	H	1068	ENSP00000365938:D1068H	ENSP00000365938:D1068H	D	-	1	0	UGGT2	95334772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.767000	0.95098	0.563000	0.77884	GAC	UGGT2	-	pfam_UDP-g_GGtrans	ENSG00000102595		0.363	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	218	0.00	0	C	NM_020121		96536771	96536771	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	42	80.82	177	SNP	1.000	G
ZBTB20	26137	genome.wustl.edu	37	3	114069805	114069805	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr3:114069805T>G	ENST00000474710.1	-	4	1298	c.1120A>C	c.(1120-1122)Agc>Cgc	p.S374R	ZBTB20_ENST00000393785.2_Missense_Mutation_p.S301R|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S301R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S301R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S301R|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S301R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S301R|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	374						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTCGAAGCTTTCACCTTTG	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	dbGAP											0													80.0	58.0	66.0					3																	114069805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1120A>C	3.37:g.114069805T>G	ENSP00000419153:p.Ser374Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S374R	ENST00000474710.1	37	c.1120	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795848	0.70452	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10573	2.9;2.9;2.9;2.9;2.86;2.9;2.9	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.01205	-1.1419	10	0.62326	D	0.03	.	15.1024	0.72292	0.0:0.0:0.0:1.0	.	374	Q9HC78	ZBT20_HUMAN	R	301;301;301;301;374;301;301	ENSP00000420324:S301R;ENSP00000377375:S301R;ENSP00000418092:S301R;ENSP00000419902:S301R;ENSP00000419153:S374R;ENSP00000349803:S301R;ENSP00000417307:S301R	ENSP00000349803:S301R	S	-	1	0	ZBTB20	115552495	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	7.490000	0.81461	2.169000	0.68431	0.528000	0.53228	AGC	ZBTB20	-	NULL	ENSG00000181722		0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	74	0.00	0	T	NM_015642		114069805	114069805	-1	no_errors	ENST00000474710	ensembl	human	known	69_37n	missense	77	35.29	42	SNP	1.000	G
ZBTB40	9923	genome.wustl.edu	37	1	22835081	22835081	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr1:22835081C>G	ENST00000375647.4	+	8	1763	c.1556C>G	c.(1555-1557)tCa>tGa	p.S519*	ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.S407*|ZBTB40_ENST00000404138.1_Nonsense_Mutation_p.S519*	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	519					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCTCTGATATCAGCAGTTCTA	0.478																																						dbGAP											0													131.0	127.0	128.0					1																	22835081		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1556C>G	1.37:g.22835081C>G	ENSP00000364798:p.Ser519*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75066|Q5TFU5|Q8N1R1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S519*	ENST00000375647.4	37	c.1556	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.266486	0.99371	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	.	.	.	6.06	5.14	0.70334	.	0.148155	0.31566	N	0.007426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.5845	14.5401	0.67987	0.0:0.9285:0.0:0.0715	.	.	.	.	X	519;519;407	.	ENSP00000363782:S407X	S	+	2	0	ZBTB40	22707668	0.995000	0.38212	0.998000	0.56505	0.964000	0.63967	2.500000	0.45381	1.545000	0.49373	0.655000	0.94253	TCA	ZBTB40	-	NULL	ENSG00000184677		0.478	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	186	0.00	0	C	NM_014870		22835081	22835081	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	nonsense	76	48.99	73	SNP	1.000	G
ZFP28	140612	genome.wustl.edu	37	19	57066120	57066120	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr19:57066120C>G	ENST00000301318.3	+	8	2037	c.1966C>G	c.(1966-1968)Cag>Gag	p.Q656E	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGCGTTCACCCAGAAGGCTCA	0.468																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													84.0	86.0	85.0					19																	57066120		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1966C>G	19.37:g.57066120C>G	ENSP00000301318:p.Gln656Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.Q656E	ENST00000301318.3	37	c.1966	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023697	0.35701	.	.	ENSG00000196867	ENST00000301318	T	0.07327	3.2	3.91	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.162494	0.29609	N	0.011676	T	0.15696	0.0378	L	0.39147	1.195	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.01452	-1.1351	10	0.33940	T	0.23	.	8.2996	0.32006	0.1696:0.6647:0.1658:0.0	.	656	Q8NHY6	ZFP28_HUMAN	E	656	ENSP00000301318:Q656E	ENSP00000301318:Q656E	Q	+	1	0	ZFP28	61757932	0.000000	0.05858	0.997000	0.53966	0.570000	0.35934	-0.897000	0.04110	2.182000	0.69389	0.555000	0.69702	CAG	ZFP28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196867		0.468	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	169	0.00	0	C	NM_020828		57066120	57066120	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	missense	118	51.04	123	SNP	0.954	G
ZNF778	197320	genome.wustl.edu	37	16	89293296	89293296	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18Q-01A-12D-A12B-09	TCGA-BH-A18Q-11A-34D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a4de6680-33c3-4f6f-8696-453470a00bcb	7a579f39-1175-4207-a069-b49b9cd87782	g.chr16:89293296G>C	ENST00000433976.2	+	6	848	c.516G>C	c.(514-516)ttG>ttC	p.L172F	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.L130F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTTCCGTGTTGGGTCAGTGTG	0.438																																						dbGAP											0													111.0	110.0	110.0					16																	89293296		1971	4182	6153	-	-	-	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.516G>C	16.37:g.89293296G>C	ENSP00000405289:p.Leu172Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AG0	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.L172F	ENST00000433976.2	37	c.516	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832154	0.16820	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.08008	3.39;3.14	1.23	-1.47	0.08772	.	.	.	.	.	T	0.02727	0.0082	N	0.02802	-0.49	0.09310	N	1	D;P	0.56035	0.974;0.956	B;B	0.41619	0.361;0.198	T	0.31138	-0.9954	9	0.87932	D	0	.	0.6883	0.00887	0.1776:0.2282:0.3644:0.2298	.	130;172	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	F	172;130	ENSP00000405289:L172F;ENSP00000305203:L130F	ENSP00000305203:L130F	L	+	3	2	ZNF778	87820797	0.598000	0.26882	0.001000	0.08648	0.018000	0.09664	0.923000	0.28757	-0.433000	0.07286	-1.225000	0.01585	TTG	ZNF778	-	NULL	ENSG00000170100		0.438	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	207	0.00	0	G	NM_182531		89293296	89293296	+1	no_errors	ENST00000433976	ensembl	human	known	69_37n	missense	128	40.19	86	SNP	0.000	C
