#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AADAT	51166	genome.wustl.edu	37	4	170991750	170991750	+	Silent	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr4:170991750G>A	ENST00000337664.4	-	6	984	c.708C>T	c.(706-708)ctC>ctT	p.L236L	AADAT_ENST00000509167.1_Silent_p.L240L|AADAT_ENST00000515480.1_Silent_p.L236L|AADAT_ENST00000353187.2_Silent_p.L236L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	236					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L236L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TGTTAAACTGGAGAAAATAGT	0.303																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											60.0	66.0	64.0					4																	170991750		2201	4291	6492	-	-	-	SO:0001819	synonymous_variant	0			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.708C>T	4.37:g.170991750G>A			B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L240	ENST00000337664.4	37	c.720	CCDS3814.1	4																																																																																			AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000109576		0.303	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	79	0.00	0	G	NM_016228		170991750	170991750	-1	no_errors	ENST00000509167	ensembl	human	known	69_37n	silent	97	29.71	41	SNP	1.000	A
ACSM2B	348158	genome.wustl.edu	37	16	20576133	20576133	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr16:20576133G>T	ENST00000329697.6	-	2	203	c.35C>A	c.(34-36)aCc>aAc	p.T12N	ACSM2B_ENST00000414188.2_Missense_Mutation_p.T12N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T12N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T12N|ACSM2B_ENST00000565322.1_Intron	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	12					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.T12N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCCCACAGGGTGCAAAGTCC	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	56.0	56.0					16																	20576133		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.35C>A	16.37:g.20576133G>T	ENSP00000327453:p.Thr12Asn		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T12N	ENST00000329697.6	37	c.35	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	7.244	0.601874	0.13939	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.43294	0.95;2.22	3.27	2.28	0.28536	.	1.713630	0.03511	N	0.219653	T	0.25644	0.0624	N	0.22421	0.69	0.09310	N	1	P;P	0.43826	0.818;0.666	B;B	0.36186	0.219;0.157	T	0.16748	-1.0392	10	0.18276	T	0.48	-5.4337	4.3999	0.11381	0.2195:0.0:0.7805:0.0	.	12;12	A8K051;Q68CK6	.;ACS2B_HUMAN	N	12	ENSP00000327453:T12N;ENSP00000390378:T12N	ENSP00000327453:T12N	T	-	2	0	ACSM2B	20483634	0.000000	0.05858	0.026000	0.17262	0.152000	0.21847	-0.004000	0.12878	0.496000	0.27904	0.505000	0.49811	ACC	ACSM2B	-	NULL	ENSG00000066813		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	170	0.00	0	G	NM_182617		20576133	20576133	-1	no_errors	ENST00000329697	ensembl	human	known	69_37n	missense	147	31.94	69	SNP	0.002	T
MFRP	83552	genome.wustl.edu	37	11	119213687	119213688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr11:119213687_119213688insG	ENST00000530681.1	-	10	1294_1295	c.1150_1151insC	c.(1150-1152)cacfs	p.H384fs	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.H384fs|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.T309fs|MFRP_ENST00000555262.1_Frame_Shift_Ins_p.H384fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	384	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H384fs*8(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGAGACGAGGTGGGGGGGTGGC	0.624																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)	GRCh37	CI052547	MFRP	I																																				-	-	-	SO:0001589	frameshift_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1151dupC	11.37:g.119213694_119213694dupG	ENSP00000456533:p.His384fs		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Ins	INS	pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt	p.H384fs	ENST00000530681.1	37	c.1151_1150	CCDS8421.1	11																																																																																			MFRP	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000235718		0.624	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	Clone_based_vega_gene	protein_coding	OTTHUMT00000415179.1	15	0.00	0	-	NM_031433		119213687	119213688	-1	no_errors	ENST00000449574	ensembl	human	known	69_37n	frame_shift_ins	7	30.00	3	INS	0.000:0.000	G
CADPS	8618	genome.wustl.edu	37	3	62385241	62385241	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr3:62385241C>T	ENST00000383710.4	-	30	4251	c.3902G>A	c.(3901-3903)cGa>cAa	p.R1301Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1222Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1262Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1301	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R1301Q(1)|p.R1262Q(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCTTGCAATCGGAAATCTCT	0.488																																						dbGAP											2	Substitution - Missense(2)	breast(2)											111.0	105.0	107.0					3																	62385241		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3902G>A	3.37:g.62385241C>T	ENSP00000373215:p.Arg1301Gln		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1301Q	ENST00000383710.4	37	c.3902	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765856|4.765856	0.90020|0.90020	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.32272	.|1.46;1.46;1.46	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.994;0.999;0.999;0.994	.|P;D;D;P	.|0.72625	.|0.701;0.975;0.978;0.769	T|T	0.56944|0.56944	-0.7895|-0.7895	5|10	.|0.72032	.|D	.|0.01	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1222;1262;1301;1306	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	N|Q	293|1307;1301;1222;1262	.|ENSP00000373215:R1301Q;ENSP00000350632:R1222Q;ENSP00000283269:R1262Q	.|ENSP00000283269:R1262Q	D|R	-|-	1|2	0|0	CADPS|CADPS	62360281|62360281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.487000|7.487000	0.81328|0.81328	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|CGA	CADPS	-	NULL	ENSG00000163618		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	115	0.00	0	C	NM_003716, NM_183393, NM_183394		62385241	62385241	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	126	34.03	65	SNP	1.000	T
CCDC33	80125	genome.wustl.edu	37	15	74622637	74622637	+	Silent	SNP	C	C	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr15:74622637C>T	ENST00000398814.3	+	12	1829	c.1398C>T	c.(1396-1398)cgC>cgT	p.R466R	CCDC33_ENST00000268082.4_Silent_p.R59R|CCDC33_ENST00000558821.1_Silent_p.R59R|CCDC33_ENST00000321288.5_Silent_p.R669R	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	669								p.R669R(1)|p.R466R(1)|p.R59R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGAGGAGCCGCCTGGCCCAGC	0.637																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											31.0	41.0	38.0					15																	74622637		2045	4188	6233	-	-	-	SO:0001819	synonymous_variant	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1398C>T	15.37:g.74622637C>T			A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	NULL	p.P347S	ENST00000398814.3	37	c.1039	CCDS42058.1	15																																																																																			CCDC33	-	NULL	ENSG00000140481		0.637	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	57	0.00	0	C	NM_182791		74622637	74622637	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558659	ensembl	human	putative	69_37n	missense	48	30.99	22	SNP	0.000	T
CELSR3	1951	genome.wustl.edu	37	3	48699376	48699377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr3:48699376_48699377insG	ENST00000164024.4	-	1	971_972	c.691_692insC	c.(691-693)cggfs	p.R231fs	CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.R231fs|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	231					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGTTCCGCCGGGGGGCTGTC	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.692dupC	3.37:g.48699382_48699382dupG	ENSP00000164024:p.Arg231fs		O75092	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R231fs	ENST00000164024.4	37	c.692_691	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.658	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	17	0.00	0	-	NM_001407		48699376	48699377	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.100:0.055	G
FRG1B	284802	genome.wustl.edu	37	20	29612363	29612363	+	Intron	SNP	G	G	C	rs75773727	byFrequency	TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr20:29612363G>C	ENST00000278882.3	+	1	257				FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_Intron|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCACGAGTTTGGGTCCCCTGA	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+250G>C	20.37:g.29612363G>C			C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.562	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	8	0.00	0	G	NR_003579		29612363	29612363	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.000	C
HUWE1	10075	genome.wustl.edu	37	X	53570824	53570824	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chrX:53570824C>T	ENST00000342160.3	-	72	11814	c.11357G>A	c.(11356-11358)cGg>cAg	p.R3786Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3786Q|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3786					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R3676Q(1)|p.R3786Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGCTGTCTCCGCGCCCTTTG	0.547																																						dbGAP											2	Substitution - Missense(2)	breast(2)											102.0	61.0	75.0					X																	53570824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11357G>A	X.37:g.53570824C>T	ENSP00000340648:p.Arg3786Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R3786Q	ENST00000342160.3	37	c.11357	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	c	14.79	2.639828	0.47153	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37584	1.19;1.19	4.74	4.74	0.60224	.	0.084158	0.47852	D	0.000202	T	0.47021	0.1423	L	0.44542	1.39	0.58432	D	0.999998	P;D	0.69078	0.496;0.997	B;D	0.66847	0.039;0.947	T	0.30179	-0.9987	10	0.09084	T	0.74	.	15.774	0.78193	0.0:1.0:0.0:0.0	.	3786;3770	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	3786	ENSP00000340648:R3786Q;ENSP00000262854:R3786Q	ENSP00000262854:R3786Q	R	-	2	0	HUWE1	53587549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.932000	0.75869	1.968000	0.57251	0.397000	0.26171	CGG	HUWE1	-	NULL	ENSG00000086758		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	174	0.00	0	C	XM_497119		53570824	53570824	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	112	39.46	73	SNP	1.000	T
HVCN1	84329	genome.wustl.edu	37	12	111089194	111089194	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr12:111089194T>G	ENST00000356742.5	-	5	1224	c.471A>C	c.(469-471)aaA>aaC	p.K157N	HVCN1_ENST00000548312.1_Missense_Mutation_p.K157N|HVCN1_ENST00000439744.2_Missense_Mutation_p.K137N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K157N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	157					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.K157N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACAAATAATTTAAAGATGA	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	100.0	99.0					12																	111089194		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.471A>C	12.37:g.111089194T>G	ENSP00000349181:p.Lys157Asn		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K157N	ENST00000356742.5	37	c.471	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	t	15.86	2.958597	0.53400	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46	5.51	-1.21	0.09524	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	M	0.89287	3.02	0.45690	D	0.998608	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.964	D	0.99360	1.0917	10	0.87932	D	0	-31.9768	10.0841	0.42408	0.0:0.348:0.0:0.652	.	157;157	Q96D96;Q96D96-3	HVCN1_HUMAN;.	N	157;157;157;137	ENSP00000449601:K157N;ENSP00000242607:K157N;ENSP00000349181:K157N;ENSP00000412052:K137N	ENSP00000242607:K157N	K	-	3	2	HVCN1	109573577	0.465000	0.25815	0.001000	0.08648	0.451000	0.32288	0.715000	0.25822	-0.461000	0.06993	0.398000	0.26397	AAA	HVCN1	-	pfam_Ion_trans_dom	ENSG00000122986		0.473	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1	118	0.00	0	T	NM_032369		111089194	111089194	-1	no_errors	ENST00000242607	ensembl	human	known	69_37n	missense	104	27.78	40	SNP	0.277	G
MIR7-3HG	284424	genome.wustl.edu	37	19	4772464	4772464	+	lincRNA	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr19:4772464G>A	ENST00000586721.1	+	0	798				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		cgcctggtccggggcccggca	0.448																																						dbGAP											0																																										-	-	-			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4772464G>A			D6W630|Q17RJ9|Q8N6C6	RNA	SNP	-	NULL	ENST00000586721.1	37	NULL		19																																																																																			MIR7-3HG	-	-	ENSG00000176840		0.448	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	HGNC	lincRNA	OTTHUMT00000459345.1	65	0.00	0	G	NR_027148		4772464	4772464	+1	no_errors	ENST00000588711	ensembl	human	known	69_37n	rna	57	40.62	39	SNP	0.001	A
MUC5B	727897	genome.wustl.edu	37	11	1266503	1266503	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr11:1266503C>A	ENST00000529681.1	+	31	8451	c.8393C>A	c.(8392-8394)aCc>aAc	p.T2798N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2801N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2798	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCAGCAACCACCGGTACC	0.672																																						dbGAP											0													21.0	28.0	26.0					11																	1266503		1820	3944	5764	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8393C>A	11.37:g.1266503C>A	ENSP00000436812:p.Thr2798Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2801N	ENST00000529681.1	37	c.8402	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.040	-0.197665	0.06219	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20069	2.1;2.29	1.79	-0.414	0.12359	.	.	.	.	.	T	0.14184	0.0343	N	0.14661	0.345	0.09310	N	1	D;D	0.59357	0.968;0.985	P;P	0.50270	0.557;0.636	T	0.12889	-1.0530	9	0.87932	D	0	.	2.0877	0.03650	0.1911:0.487:0.1885:0.1334	.	3381;2801	A7Y9J9;E9PBJ0	.;.	N	2798;2801;2770;2758	ENSP00000436812:T2798N;ENSP00000415793:T2801N	ENSP00000343037:T2770N	T	+	2	0	MUC5B	1223079	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.314000	0.01125	-0.109000	0.12044	0.195000	0.17529	ACC	MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	12	0.00	0	C	XM_001126093		1266503	1266503	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.000	A
NCKAP1	10787	genome.wustl.edu	37	2	183848015	183848015	+	Splice_Site	SNP	T	T	C			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr2:183848015T>C	ENST00000361354.4	-	11	1472	c.1100A>G	c.(1099-1101)aAg>aGg	p.K367R	NCKAP1_ENST00000360982.2_Splice_Site_p.K373R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	367					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.K373R(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAATTACCTTGGGACCTAG	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	82.0	83.0					2																	183848015		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1101+1A>G	2.37:g.183848015T>C			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.K373R	ENST00000361354.4	37	c.1118	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.876710	0.91664	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.36878	1.23;1.23	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	M	0.81341	2.54	0.80722	D	1	P;P	0.43392	0.805;0.768	B;B	0.44133	0.442;0.315	T	0.55611	-0.8114	10	0.56958	D	0.05	-11.5599	15.2613	0.73625	0.0:0.0:0.0:1.0	.	367;373	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	367;373	ENSP00000355348:K367R;ENSP00000354251:K373R	ENSP00000354251:K373R	K	-	2	0	NCKAP1	183556260	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.019000	0.88732	2.014000	0.59158	0.454000	0.30748	AAG	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.338	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	104	0.00	0	T	NM_205842	Missense_Mutation	183848015	183848015	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	missense	115	35.03	62	SNP	1.000	C
NCOA2	10499	genome.wustl.edu	37	8	71060629	71060629	+	Silent	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr8:71060629G>A	ENST00000452400.2	-	12	2665	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	NCOA2_ENST00000267974.4_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	828					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.G828G(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGCAGGGGCGCCTGGCCTCG	0.507			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - coding silent(1)	breast(1)											129.0	131.0	130.0					8																	71060629		1953	4152	6105	-	-	-	SO:0001819	synonymous_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2484C>T	8.37:g.71060629G>A		1127	Q14CD2	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.G828	ENST00000452400.2	37	c.2484	CCDS47872.1	8																																																																																			NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.507	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	81	0.00	0	G			71060629	71060629	-1	no_errors	ENST00000452400	ensembl	human	known	69_37n	silent	65	39.25	42	SNP	0.974	A
NPHP4	261734	genome.wustl.edu	37	1	5987774	5987774	+	Missense_Mutation	SNP	G	G	A	rs371819898		TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr1:5987774G>A	ENST00000378156.4	-	11	1641	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	459					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.T459M(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGGCTCCGTGGGTGCATC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	95.0	92.0					1																	5987774		1985	4133	6118	-	-	-	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1376C>T	1.37:g.5987774G>A	ENSP00000367398:p.Thr459Met		Q8IWC0	Missense_Mutation	SNP	NULL	p.T459M	ENST00000378156.4	37	c.1376	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	3.831	-0.035726	0.07497	.	.	ENSG00000131697	ENST00000378156	D	0.87256	-2.23	4.77	1.47	0.22746	.	2.306410	0.01613	N	0.022605	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	1	P	0.42123	0.771	B	0.30105	0.111	T	0.68424	-0.5412	10	0.46703	T	0.11	.	5.0165	0.14339	0.2938:0.149:0.5572:0.0	.	459	O75161	NPHP4_HUMAN	M	459	ENSP00000367398:T459M	ENSP00000367398:T459M	T	-	2	0	NPHP4	5910361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.244000	0.08903	0.320000	0.23234	0.655000	0.94253	ACG	NPHP4	-	NULL	ENSG00000131697		0.597	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	85	0.00	0	G			5987774	5987774	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	missense	79	33.06	40	SNP	0.000	A
PMS2	5395	genome.wustl.edu	37	7	6013049	6013049	+	Missense_Mutation	SNP	C	C	G	rs1802683	byFrequency	TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr7:6013049C>G	ENST00000265849.7	-	15	2675	c.2570G>C	c.(2569-2571)gGt>gCt	p.G857A	PMS2_ENST00000382321.4_Missense_Mutation_p.G456A|RSPH10B_ENST00000404406.1_5'Flank|RSPH10B_ENST00000405415.1_5'Flank|PMS2_ENST00000441476.2_Missense_Mutation_p.G751A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	857					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGAAATGACACCCAGGTTGGC	0.453			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													11.0	13.0	12.0					7																	6013049		2006	4056	6062	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2570G>C	7.37:g.6013049C>G	ENSP00000265849:p.Gly857Ala		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.G857A	ENST00000265849.7	37	c.2570	CCDS5343.1	7	378	0.17307692307692307	103	0.20934959349593496	73	0.20165745856353592	76	0.13286713286713286	126	0.1662269129287599	C	8.419	0.845863	0.16963	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	D;D;T	0.86956	-1.86;-2.19;-1.26	5.2	2.84	0.33178	.	0.108239	0.64402	D	0.000012	T	0.00109	0.0003	N	0.04768	-0.165	0.37619	P	0.07877500000000004	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.03545	-1.1026	9	0.06891	T	0.86	-5.7653	6.6077	0.22734	0.0:0.0845:0.1704:0.7451	.	456;857;751	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	A	857;810;456;751	ENSP00000265849:G857A;ENSP00000371758:G456A;ENSP00000392843:G751A	ENSP00000265849:G857A	G	-	2	0	PMS2	5979575	1.000000	0.71417	0.826000	0.32828	0.555000	0.35460	5.160000	0.64929	0.325000	0.23359	-0.367000	0.07326	GGT	PMS2	-	NULL	ENSG00000122512		0.453	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	8	0.00	0	C	NM_000535		6013049	6013049	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	missense	7	65.00	13	SNP	0.999	G
PTCH1	5727	genome.wustl.edu	37	9	98211487	98211487	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr9:98211487G>A	ENST00000331920.6	-	22	3967	c.3668C>T	c.(3667-3669)tCg>tTg	p.S1223L	PTCH1_ENST00000418258.1_Missense_Mutation_p.S1072L|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1157L|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1072L|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1222L|PTCH1_ENST00000430669.2_Missense_Mutation_p.S1157L|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1072L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1223					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1222L(2)|p.S1223L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTATACTCCGAGTCGGAGGA	0.677																																						dbGAP											4	Substitution - Missense(4)	breast(4)											25.0	26.0	26.0					9																	98211487		2203	4298	6501	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3668C>T	9.37:g.98211487G>A	ENSP00000332353:p.Ser1223Leu		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.S1223L	ENST00000331920.6	37	c.3668	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102718	0.76983	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.91180	-2.79;-2.78;-2.77;-2.77;-2.78;-2.77;-2.8	5.95	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92802	0.7711	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.996	P;P;P	0.56751	0.668;0.805;0.565	D	0.92995	0.6418	10	0.62326	D	0.03	-17.7819	16.6548	0.85225	0.0:0.1296:0.8704:0.0	.	1157;1222;1223	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	L	1223;1157;1072;1072;1157;15;1072;1222	ENSP00000332353:S1223L;ENSP00000389744:S1157L;ENSP00000399981:S1072L;ENSP00000396135:S1072L;ENSP00000410287:S1157L;ENSP00000414823:S1072L;ENSP00000364423:S1222L	ENSP00000332353:S1223L	S	-	2	0	PTCH1	97251308	1.000000	0.71417	0.978000	0.43139	0.107000	0.19398	6.316000	0.72857	2.825000	0.97269	0.655000	0.94253	TCG	PTCH1	-	NULL	ENSG00000185920		0.677	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	43	0.00	0	G	NM_000264		98211487	98211487	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	47	40.51	32	SNP	0.998	A
RBM19	9904	genome.wustl.edu	37	12	114352823	114352823	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr12:114352823G>A	ENST00000545145.2	-	21	2587	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	RBM19_ENST00000261741.5_Missense_Mutation_p.R837W|RBM19_ENST00000392561.3_Missense_Mutation_p.R837W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	837	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R837W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGATGTTCCGCACCAGGATC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	113.0	118.0					12																	114352823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2509C>T	12.37:g.114352823G>A	ENSP00000442053:p.Arg837Trp		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.R837W	ENST00000545145.2	37	c.2509	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838716	0.91117	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.17691	2.26;2.26;2.26	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53143	-0.8480	10	0.87932	D	0	-27.9928	16.187	0.81960	0.0:0.0:1.0:0.0	.	837	Q9Y4C8	RBM19_HUMAN	W	837	ENSP00000442053:R837W;ENSP00000376344:R837W;ENSP00000261741:R837W	ENSP00000261741:R837W	R	-	1	2	RBM19	112837206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.580000	0.60942	2.553000	0.86117	0.557000	0.71058	CGG	RBM19	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.597	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	78	0.00	0	G	NM_016196		114352823	114352823	-1	no_errors	ENST00000261741	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	1.000	A
SIPA1L1	26037	genome.wustl.edu	37	14	72138130	72138130	+	Silent	SNP	A	A	G			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr14:72138130A>G	ENST00000555818.1	+	8	2898	c.2550A>G	c.(2548-2550)ggA>ggG	p.G850G	SIPA1L1_ENST00000537413.1_Silent_p.G325G|SIPA1L1_ENST00000381232.3_Silent_p.G850G|SIPA1L1_ENST00000358550.2_Silent_p.G850G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	850					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.G850G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATATCCAGGAGCCGAGCTCA	0.507																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											63.0	60.0	61.0					14																	72138130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2550A>G	14.37:g.72138130A>G			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G850	ENST00000555818.1	37	c.2550	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	127	0.00	0	A	NM_015556		72138130	72138130	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	silent	146	10.98	18	SNP	1.000	G
SLC11A1	6556	genome.wustl.edu	37	2	219249939	219249939	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr2:219249939G>A	ENST00000233202.6	+	4	683	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	115					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.V115M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTCTGGGCGTGGTGACAGG	0.632																																						dbGAP											2	Substitution - Missense(2)	NS(1)|breast(1)											106.0	99.0	101.0					2																	219249939		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.343G>A	2.37:g.219249939G>A	ENSP00000233202:p.Val115Met		C0H5Y3	Missense_Mutation	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.V115M	ENST00000233202.6	37	c.343	CCDS2415.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486649	0.84854	.	.	ENSG00000018280	ENST00000233202	T	0.72835	-0.69	5.06	4.19	0.49359	.	0.163454	0.42053	D	0.000765	D	0.84406	0.5465	M	0.86864	2.845	0.80722	D	1	D;D;D	0.71674	0.98;0.995;0.998	P;D;D	0.67548	0.781;0.913;0.952	D	0.87201	0.2241	10	0.72032	D	0.01	-17.6923	13.4754	0.61306	0.0763:0.0:0.9237:0.0	.	115;115;115	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	M	115	ENSP00000233202:V115M	ENSP00000233202:V115M	V	+	1	0	SLC11A1	218958183	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	6.151000	0.71806	1.366000	0.46076	0.549000	0.68633	GTG	SLC11A1	-	pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	ENSG00000018280		0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	HGNC	protein_coding	OTTHUMT00000195076.2	86	0.00	0	G	NM_000578		219249939	219249939	+1	no_errors	ENST00000233202	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	1.000	A
SLC17A4	10050	genome.wustl.edu	37	6	25769214	25769214	+	Splice_Site	SNP	T	T	C			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr6:25769214T>C	ENST00000377905.4	+	3	212	c.93T>C	c.(91-93)ggT>ggC	p.G31G	SLC17A4_ENST00000439485.2_Splice_Site_p.G31G|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	31					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.G31G(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTCTCAGGTTTTTGTTCAG	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											94.0	84.0	88.0					6																	25769214		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.92-1T>C	6.37:g.25769214T>C			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G31	ENST00000377905.4	37	c.93	CCDS4564.1	6																																																																																			SLC17A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000146039		0.443	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	83	0.00	0	T		Silent	25769214	25769214	+1	no_errors	ENST00000377905	ensembl	human	known	69_37n	silent	132	13.73	21	SNP	0.058	C
SLC36A3	285641	genome.wustl.edu	37	5	150682787	150682787	+	Splice_Site	SNP	C	C	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr5:150682787C>A	ENST00000335230.3	-	1	540		c.e1+1		SLC36A3_ENST00000377713.3_Splice_Site	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCCACTTACGATAGTCCAG	0.512																																						dbGAP											1	Unknown(1)	breast(1)											101.0	76.0	85.0					5																	150682787		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.128+1G>T	5.37:g.150682787C>A			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Splice_Site	SNP	-	e1+1	ENST00000335230.3	37	c.128+1	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943822	0.18281	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	.	.	.	3.17	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1952	0.31392	0.0:0.7526:0.2474:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC36A3	150662980	0.205000	0.23458	0.828000	0.32881	0.022000	0.10575	0.007000	0.13174	0.885000	0.36088	0.563000	0.77884	.	SLC36A3	-	-	ENSG00000186334		0.512	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	55	0.00	0	C	NM_181774	Intron	150682787	150682787	-1	no_errors	ENST00000377713	ensembl	human	known	69_37n	splice_site	51	36.59	30	SNP	0.851	A
SRGAP3	9901	genome.wustl.edu	37	3	9032490	9032490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr3:9032490delG	ENST00000383836.3	-	21	3019	c.2592delC	c.(2590-2592)cccfs	p.P864fs	SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.P840fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	864					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTCGGCGTCTGGGGATGGCTG	0.687			T	RAF1	pilocytic astrocytoma																																	dbGAP		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													9.0	12.0	11.0					3																	9032490		2187	4291	6478	-	-	-	SO:0001589	frameshift_variant	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2592delC	3.37:g.9032490delG	ENSP00000373347:p.Pro864fs		Q8IX13|Q8IZV8	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R865fs	ENST00000383836.3	37	c.2592	CCDS2572.1	3																																																																																			SRGAP3	-	NULL	ENSG00000196220		0.687	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	8	0.00	0	G			9032490	9032490	-1	no_errors	ENST00000383836	ensembl	human	known	69_37n	frame_shift_del	11	31.25	5	DEL	1.000	-
STEAP3	55240	genome.wustl.edu	37	2	120012348	120012348	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr2:120012348C>T	ENST00000354888.5	+	5	1613	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	STEAP3_ENST00000425223.2_Missense_Mutation_p.T370M|STEAP3_ENST00000393107.2_Missense_Mutation_p.T370M|STEAP3_ENST00000393106.2_Missense_Mutation_p.T370M|STEAP3_ENST00000393108.2_Missense_Mutation_p.T370M|STEAP3_ENST00000409811.1_Missense_Mutation_p.T370M|STEAP3_ENST00000393110.2_Missense_Mutation_p.T380M|STEAP3_ENST00000450943.2_Missense_Mutation_p.T370M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	370	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.T370M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCCTCGGCACGTTGTCCCTG	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											116.0	100.0	105.0					2																	120012348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1109C>T	2.37:g.120012348C>T	ENSP00000346961:p.Thr370Met		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.T380M	ENST00000354888.5	37	c.1139	CCDS2125.1	2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667354	0.47677	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223;ENST00000546236	D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.29	1.2	0.21068	Flavoprotein transmembrane component (1);	0.410133	0.25256	N	0.031996	T	0.75693	0.3884	N	0.14661	0.345	0.24646	N	0.993545	B;B;B	0.32829	0.386;0.05;0.023	B;B;B	0.22753	0.041;0.01;0.006	T	0.64402	-0.6416	9	.	.	.	-6.7287	6.5556	0.22458	0.0:0.4237:0.0:0.5763	.	370;380;370	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	M	370;370;370;380;370;370;370;370;14	ENSP00000376820:T370M;ENSP00000346961:T370M;ENSP00000396873:T370M;ENSP00000376822:T380M;ENSP00000376818:T370M;ENSP00000386510:T370M;ENSP00000376819:T370M;ENSP00000396214:T370M	.	T	+	2	0	STEAP3	119728818	0.030000	0.19436	0.697000	0.30258	0.966000	0.64601	2.088000	0.41663	0.370000	0.24538	0.561000	0.74099	ACG	STEAP3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000115107		0.587	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP3	HGNC	protein_coding	OTTHUMT00000254193.1	128	0.00	0	C	NM_018234		120012348	120012348	+1	no_errors	ENST00000393110	ensembl	human	known	69_37n	missense	93	34.97	50	SNP	0.905	T
SVEP1	79987	genome.wustl.edu	37	9	113168951	113168951	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr9:113168951G>C	ENST00000401783.2	-	38	9265	c.8929C>G	c.(8929-8931)Cct>Gct	p.P2977A	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2954A|SVEP1_ENST00000297826.5_Missense_Mutation_p.P903A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2977	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P2980A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTATAACCAGGAAAGCACTGA	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	91.0	92.0					9																	113168951		1874	4111	5985	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8929C>G	9.37:g.113168951G>C	ENSP00000384917:p.Pro2977Ala		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P2977A	ENST00000401783.2	37	c.8929	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891547	0.33442	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65178	-0.14;-0.14;-0.14	5.57	-1.07	0.09968	Complement control module (2);Sushi/SCR/CCP (3);	0.357035	0.31082	N	0.008295	T	0.47266	0.1436	L	0.58925	1.835	0.80722	D	1	B	0.27286	0.174	B	0.29942	0.109	T	0.18272	-1.0342	10	0.10377	T	0.69	.	4.8366	0.13468	0.2588:0.0:0.5032:0.238	.	2977	Q4LDE5	SVEP1_HUMAN	A	2977;2954;903	ENSP00000384917:P2977A;ENSP00000363593:P2954A;ENSP00000297826:P903A	ENSP00000297826:P903A	P	-	1	0	SVEP1	112208772	1.000000	0.71417	0.733000	0.30861	0.964000	0.63967	1.309000	0.33539	-0.174000	0.10743	0.591000	0.81541	CCT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		61	0.00	0	G			113168951	113168951	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	49	40.24	33	SNP	0.982	C
TBC1D9B	23061	genome.wustl.edu	37	5	179290808	179290809	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr5:179290808_179290809insC	ENST00000356834.3	-	22	3429_3430	c.3392_3393insG	c.(3391-3393)ggcfs	p.G1131fs	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Frame_Shift_Ins_p.G272fs|TBC1D9B_ENST00000519746.1_Frame_Shift_Ins_p.G290fs|TBC1D9B_ENST00000355235.3_Frame_Shift_Ins_p.G1114fs	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1131						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCGCCGCTGCCCCCCTCCAC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3393dupG	5.37:g.179290814_179290814dupC	ENSP00000349291:p.Gly1131fs		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S1132fs	ENST00000356834.3	37	c.3393_3392	CCDS43408.1	5																																																																																			TBC1D9B	-	NULL	ENSG00000197226		0.644	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	20	0.00	0	-	NM_015043		179290808	179290809	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.007:0.033	C
TTC7A	57217	genome.wustl.edu	37	2	47278894	47278894	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr2:47278894G>A	ENST00000319190.5	+	18	2395	c.2027G>A	c.(2026-2028)cGg>cAg	p.R676Q	TTC7A_ENST00000263737.6_Missense_Mutation_p.R322Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.R642Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R700Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	676					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.R676Q(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGCTCCCGGCGGGCTTCGTCC	0.662																																						dbGAP											1	Substitution - Missense(1)	breast(1)											46.0	49.0	48.0					2																	47278894		2180	4261	6441	-	-	-	SO:0001583	missense	0			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2027G>A	2.37:g.47278894G>A	ENSP00000316699:p.Arg676Gln		Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R676Q	ENST00000319190.5	37	c.2027	CCDS33193.1	2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951819	0.53186	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.32023	1.91;1.92;1.55;1.47	5.18	2.31	0.28768	.	0.261194	0.42053	N	0.000765	T	0.18676	0.0448	N	0.14661	0.345	0.09310	N	0.999999	D;B;D;B	0.64830	0.994;0.146;0.99;0.227	P;B;P;B	0.47864	0.559;0.03;0.455;0.065	T	0.07271	-1.0781	10	0.28530	T	0.3	-22.2832	6.2609	0.20899	0.2505:0.1485:0.601:0.0	.	700;642;676;642	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	Q	642;676;700;322;503	ENSP00000386307:R642Q;ENSP00000316699:R676Q;ENSP00000378320:R700Q;ENSP00000263737:R322Q	ENSP00000263737:R322Q	R	+	2	0	TTC7A	47132398	0.001000	0.12720	1.000000	0.80357	0.657000	0.38888	1.104000	0.31074	0.775000	0.33450	-0.140000	0.14226	CGG	TTC7A	-	NULL	ENSG00000068724		0.662	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	HGNC	protein_coding	OTTHUMT00000329667.2	22	0.00	0	G	XM_372927		47278894	47278894	+1	no_errors	ENST00000319190	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	0.024	A
MAP3K19	80122	genome.wustl.edu	37	2	135745540	135745540	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr2:135745540C>T	ENST00000375845.3	-	7	932	c.902G>A	c.(901-903)tGc>tAc	p.C301Y	MAP3K19_ENST00000392915.1_Missense_Mutation_p.C318Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.C188Y|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	301							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C301Y(1)									CTTCTCCAGGCATTGCCTGTG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	94.0	94.0					2																	135745540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.902G>A	2.37:g.135745540C>T	ENSP00000365005:p.Cys301Tyr		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	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	p.C301Y	ENST00000375845.3	37	c.902	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	0.494	-0.874050	0.02550	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.69175	-0.38;-0.38;1.99	4.81	1.06	0.20224	.	1.007710	0.07993	N	0.987392	T	0.50377	0.1612	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40664	-0.9551	10	0.56958	D	0.05	.	6.2437	0.20805	0.0:0.0812:0.3069:0.6118	.	188;318;301	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	301;188;318	ENSP00000365005:C301Y;ENSP00000351140:C188Y;ENSP00000376647:C318Y	ENSP00000351140:C188Y	C	-	2	0	YSK4	135462010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.521000	0.22893	0.022000	0.15160	-1.283000	0.01379	TGC	YSK4	-	NULL	ENSG00000176601		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YSK4	HGNC	protein_coding	OTTHUMT00000158244.1	96	0.00	0	C	NM_025052		135745540	135745540	-1	no_errors	ENST00000375845	ensembl	human	known	69_37n	missense	97	35.33	53	SNP	0.001	T
ZBTB11	27107	genome.wustl.edu	37	3	101390741	101390742	+	Intron	INS	-	-	G			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr3:101390741_101390742insG	ENST00000312938.4	-	2	1127				ZBTB11_ENST00000461821.1_Frame_Shift_Ins_p.Q209fs	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTTAGTGGTTTGAGAAAAATA	0.342																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.546+79->C	3.37:g.101390741_101390742insG			Q2NKP9	Frame_Shift_Ins	INS	NULL	p.Q209fs	ENST00000312938.4	37	c.627_626	CCDS2943.1	3																																																																																			ZBTB11	-	NULL	ENSG00000066422		0.342	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	31	0.00	0	-	NM_014415		101390741	101390742	-1	no_errors	ENST00000461821	ensembl	human	putative	69_37n	frame_shift_ins	55	12.70	8	INS	0.001:0.002	G
ZNF331	55422	genome.wustl.edu	37	19	54081068	54081068	+	Silent	SNP	G	G	A			TCGA-A2-A0ER-01A-21W-A050-09	TCGA-A2-A0ER-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	31ed187e-9bfe-4ca3-8cbb-10c1e0184331	2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a	g.chr19:54081068G>A	ENST00000253144.9	+	7	2587	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	ZNF331_ENST00000512387.1_Silent_p.K418K|ZNF331_ENST00000449416.1_Silent_p.K418K|ZNF331_ENST00000513999.1_Silent_p.K418K|ZNF331_ENST00000511593.2_Silent_p.K418K|ZNF331_ENST00000411977.2_Silent_p.K418K|ZNF331_ENST00000511154.1_Silent_p.K418K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K418K(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AATGTGGGAAGAGCTTTAGTC	0.483			T	?	follicular thyroid adenoma																																	dbGAP		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	1	Substitution - coding silent(1)	breast(1)											70.0	61.0	64.0					19																	54081068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1254G>A	19.37:g.54081068G>A			Q96GJ4	Silent	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.K418	ENST00000253144.9	37	c.1254	CCDS33102.1	19																																																																																			ZNF331	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.483	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	76	0.00	0	G	NM_018555		54081068	54081068	+1	no_errors	ENST00000253144	ensembl	human	known	69_37n	silent	69	21.59	19	SNP	0.897	A
