#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
ABCC4	10257	genome.wustl.edu	37	13	95847154	95847154	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr13:95847154C>T	ENST00000376887.4	-	9	1313	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	ABCC4_ENST00000536256.1_Missense_Mutation_p.R325H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CGGCAGCTGACGGTTGCGCTG	0.378																																						dbGAP											0													113.0	100.0	104.0					13																	95847154		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1199G>A	13.37:g.95847154C>T	ENSP00000366084:p.Arg400His		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.R400H	ENST00000376887.4	37	c.1199	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458294	0.26248	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91237	-2.75;-2.73;-2.81;-2.75	4.98	-0.126	0.13515	ABC transporter, transmembrane domain, type 1 (1);	1.564160	0.03478	N	0.214653	T	0.82204	0.4986	N	0.20401	0.57	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.67333	-0.5697	10	0.45353	T	0.12	.	3.3441	0.07129	0.148:0.2575:0.471:0.1235	.	325;400;400;400;400	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	H	400;400;325;400	ENSP00000388657:R400H;ENSP00000366084:R400H;ENSP00000442024:R325H;ENSP00000398562:R400H	ENSP00000366084:R400H	R	-	2	0	ABCC4	94645155	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.251000	0.18257	-0.042000	0.13535	-0.502000	0.04539	CGT	ABCC4	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000125257		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	49	0.00	0	C	NM_005845		95847154	95847154	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	0.000	T
ACTR10	55860	genome.wustl.edu	37	14	58690363	58690363	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr14:58690363C>G	ENST00000254286.4	+	9	738	c.658C>G	c.(658-660)Ctg>Gtg	p.L220V		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	220					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TGTAAGTGATCTGAAGCGAGG	0.338																																						dbGAP											0													78.0	78.0	78.0					14																	58690363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.658C>G	14.37:g.58690363C>G	ENSP00000254286:p.Leu220Val		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.L220V	ENST00000254286.4	37	c.658	CCDS32090.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.345696|3.345696	0.61073|0.61073	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000543474;ENST00000254286|ENST00000554642	D|.	0.94280|.	-3.39|.	5.88|5.88	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76463|0.76463	0.3991|0.3991	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	P;P|.	0.44195|.	0.828;0.828|.	B;B|.	0.39935|.	0.314;0.314|.	T|T	0.78135|0.78135	-0.2322|-0.2322	10|5	0.87932|.	D|.	0|.	-2.9865|-2.9865	15.461|15.461	0.75356|0.75356	0.1397:0.8603:0.0:0.0|0.1397:0.8603:0.0:0.0	.|.	220;220|.	Q53H79;Q9NZ32|.	.;ARP10_HUMAN|.	V|C	220|3	ENSP00000254286:L220V|.	ENSP00000254286:L220V|.	L|S	+|+	1|2	2|0	ACTR10|ACTR10	57760116|57760116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.245000|4.245000	0.58734|0.58734	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	CTG|TCT	ACTR10	-	pfam_Actin-like,smart_Actin-like	ENSG00000131966		0.338	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	78	0.00	0	C			58690363	58690363	+1	no_errors	ENST00000254286	ensembl	human	known	69_37n	missense	68	13.58	11	SNP	1.000	G
ANKRD17	26057	genome.wustl.edu	37	4	73941980	73941980	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr4:73941980T>A	ENST00000358602.4	-	34	7896	c.7780A>T	c.(7780-7782)Atg>Ttg	p.M2594L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.M2343L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.M2481L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2594					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACACTGTTCATGTGAGGTGCC	0.363																																						dbGAP											0													70.0	63.0	65.0					4																	73941980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7780A>T	4.37:g.73941980T>A	ENSP00000351416:p.Met2594Leu		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.M2594L	ENST00000358602.4	37	c.7780	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	T	7.359	0.624528	0.14193	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.63580	-0.05;-0.03;-0.03	5.34	4.11	0.48088	.	0.071189	0.56097	D	0.000028	T	0.48714	0.1515	N	0.25647	0.755	0.29157	N	0.878017	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.49194	-0.8965	10	0.44086	T	0.13	.	13.5676	0.61828	0.0:0.0:0.1383:0.8617	.	2593;2343;2594;2481	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	2594;2001;2343;2481	ENSP00000351416:M2594L;ENSP00000332265:M2343L;ENSP00000427151:M2481L	ENSP00000332265:M2343L	M	-	1	0	ANKRD17	74160844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.405000	0.59741	2.035000	0.60131	0.533000	0.62120	ATG	ANKRD17	-	NULL	ENSG00000132466		0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	49	0.00	0	T	NM_032217		73941980	73941980	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	1.000	A
ANO2	57101	genome.wustl.edu	37	12	5853403	5853403	+	Missense_Mutation	SNP	G	G	A	rs201903128		TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr12:5853403G>A	ENST00000356134.5	-	13	1333	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	ANO2_ENST00000327087.8_Missense_Mutation_p.S420L|ANO2_ENST00000546188.1_Missense_Mutation_p.S421L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	425					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCCACAGGCTGAGCTGAGGTT	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18912	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													104.0	112.0	109.0					12																	5853403		2118	4237	6355	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1262C>T	12.37:g.5853403G>A	ENSP00000348453:p.Ser421Leu		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.S421L	ENST00000356134.5	37	c.1262		12	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.5	3.996420	0.74818	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67865	-0.29;-0.28;-0.28	5.25	5.25	0.73442	.	0.323197	0.31747	N	0.007127	T	0.72969	0.3527	M	0.67625	2.065	0.41386	D	0.987587	P	0.37083	0.581	P	0.47299	0.543	T	0.74685	-0.3582	10	0.52906	T	0.07	.	13.89	0.63733	0.0:0.1524:0.8476:0.0	.	420	Q9NQ90-3	.	L	420;421;421;425	ENSP00000314048:S420L;ENSP00000348453:S421L;ENSP00000440981:S421L	ENSP00000314048:S420L	S	-	2	0	ANO2	5723664	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.725000	0.54970	2.619000	0.88677	0.655000	0.94253	TCA	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.552	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	54	0.00	0	G	NM_020373		5853403	5853403	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.964	A
APC	324	genome.wustl.edu	37	5	112177102	112177102	+	Silent	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr5:112177102C>T	ENST00000457016.1	+	16	6191	c.5811C>T	c.(5809-5811)tcC>tcT	p.S1937S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S1937S|APC_ENST00000257430.4_Silent_p.S1937S			P25054	APC_HUMAN	adenomatous polyposis coli	1937	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCCAGTCATCCAAAGACATAC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											107.0	97.0	100.0					5																	112177102		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5811C>T	5.37:g.112177102C>T			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1937	ENST00000457016.1	37	c.5811	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	57	0.00	0	C	NM_000038		112177102	112177102	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	silent	51	20.31	13	SNP	0.998	T
ATG16L1	55054	genome.wustl.edu	37	2	234198929	234198929	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr2:234198929G>A	ENST00000392017.4	+	14	1617	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ATG16L1_ENST00000392018.1_Missense_Mutation_p.D471N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D291N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D435N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D275N|SCARNA6_ENST00000515982.1_RNA	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	454					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAGTTGCAATGATATTGTCTG	0.428																																						dbGAP											0													251.0	229.0	237.0					2																	234198929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1360G>A	2.37:g.234198929G>A	ENSP00000375872:p.Asp454Asn		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D454N	ENST00000392017.4	37	c.1360	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	G	36	5.785917	0.96937	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.099662	0.64402	D	0.000003	T	0.49592	0.1566	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.999	T	0.28332	-1.0047	10	0.25106	T	0.35	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	408;435;275;454;291	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	N	454;291;275;435;471;113	ENSP00000375872:D454N;ENSP00000318259:D291N;ENSP00000362625:D275N;ENSP00000375875:D435N;ENSP00000375873:D471N	ENSP00000334016:D113N	D	+	1	0	ATG16L1	233863668	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.731000	0.98807	2.732000	0.93576	0.650000	0.86243	GAT	ATG16L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085978		0.428	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	HGNC	protein_coding	OTTHUMT00000257069.2	54	0.00	0	G	NM_017974		234198929	234198929	+1	no_errors	ENST00000392017	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	79951434	79951434	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chrX:79951434C>T	ENST00000373275.4	-	27	3340	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1042					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTTGGCTTCATTATAAAAC	0.303																																						dbGAP											0													76.0	70.0	72.0					X																	79951434		2203	4293	6496	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3124G>A	X.37:g.79951434C>T	ENSP00000362372:p.Glu1042Lys		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1042K	ENST00000373275.4	37	c.3124	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676152	0.88445	.	.	ENSG00000165288	ENST00000373275	T	0.39406	1.08	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.60455	1.87	0.58432	D	0.999999	P	0.41624	0.757	B	0.43575	0.424	T	0.38735	-0.9647	9	.	.	.	-21.0654	17.9069	0.88921	0.0:1.0:0.0:0.0	.	1042	Q6RI45	BRWD3_HUMAN	K	1042	ENSP00000362372:E1042K	.	E	-	1	0	BRWD3	79838090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.519000	0.84933	0.538000	0.68166	GAA	BRWD3	-	NULL	ENSG00000165288		0.303	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	62	0.00	0	C	NM_153252		79951434	79951434	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	T
C21orf59	56683	genome.wustl.edu	37	21	33974174	33974174	+	Silent	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr21:33974174C>T	ENST00000290155.3	-	7	1494	c.872G>A	c.(871-873)tGa>tAa	p.*291*	AP000275.65_ENST00000553001.1_Intron|C21orf59_ENST00000382549.4_3'UTR	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	0						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TGGTGAACTTCATCTTGGTCT	0.378																																						dbGAP											0													151.0	140.0	144.0					21																	33974174		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.872G>A	21.37:g.33974174C>T			Q53FH0	Silent	SNP	pfam_DUF2870	p.*291	ENST00000290155.3	37	c.872	CCDS13617.1	21																																																																																			C21orf59	-	NULL	ENSG00000159079		0.378	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	90	0.00	0	C	NM_021254		33974174	33974174	-1	no_errors	ENST00000290155	ensembl	human	known	69_37n	silent	71	15.48	13	SNP	1.000	T
DAD1	1603	genome.wustl.edu	37	14	23057891	23057891	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr14:23057891G>A	ENST00000250498.4	-	1	284	c.173C>T	c.(172-174)tCg>tTg	p.S58L	DAD1_ENST00000538631.1_Missense_Mutation_p.S58L|DAD1_ENST00000543337.1_Intron	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	58					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GATGAAGCCCGAGAGAAAAGA	0.478																																						dbGAP											0													72.0	71.0	71.0					14																	23057891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.173C>T	14.37:g.23057891G>A	ENSP00000250498:p.Ser58Leu		D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Missense_Mutation	SNP	pfam_DAD,pirsf_DAD	p.S58L	ENST00000250498.4	37	c.173	CCDS9571.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.772150	0.96922	.	.	ENSG00000129562	ENST00000250498;ENST00000538631	T;T	0.55760	0.5;0.5	5.65	5.65	0.86999	.	0.109676	0.64402	D	0.000005	T	0.67924	0.2945	M	0.93678	3.445	0.80722	D	1	P	0.48016	0.904	B	0.43103	0.408	T	0.78214	-0.2291	10	0.87932	D	0	-5.3488	17.2626	0.87075	0.0:0.0:1.0:0.0	.	58	P61803	DAD1_HUMAN	L	58	ENSP00000250498:S58L;ENSP00000440242:S58L	ENSP00000250498:S58L	S	-	2	0	DAD1	22127731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.109000	0.77062	2.941000	0.99782	0.655000	0.94253	TCG	DAD1	-	pfam_DAD,pirsf_DAD	ENSG00000129562		0.478	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DAD1	HGNC	protein_coding	OTTHUMT00000071617.2	25	0.00	0	G	NM_001344		23057891	23057891	-1	no_errors	ENST00000250498	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	A
DNAJC14	85406	genome.wustl.edu	37	12	56217190	56217190	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr12:56217190C>T	ENST00000357606.3	-	4	1799	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	RP11-762I7.5_ENST00000552719.1_5'Flank|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E504K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E504K|RP11-762I7.5_ENST00000546837.1_Silent_p.*133*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	504	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ACTTACATCTCATACTCCTTT	0.463																																						dbGAP											0													90.0	80.0	84.0					12																	56217190		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1510G>A	12.37:g.56217190C>T	ENSP00000350223:p.Glu504Lys		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E504K	ENST00000357606.3	37	c.1510	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.113108	0.94339	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.30981	1.51;1.51;1.51	5.85	5.85	0.93711	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.43923	1.385	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.71870	0.975;0.975	T	0.35822	-0.9773	10	0.62326	D	0.03	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	504;504	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	K	504;504;214;504	ENSP00000350223:E504K;ENSP00000316240:E504K;ENSP00000317500:E504K	ENSP00000316240:E504K	E	-	1	0	DNAJC14	54503457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.187000	0.77730	2.941000	0.99782	0.655000	0.94253	GAG	DNAJC14	-	pfam_DnaJ_N,pfscan_DnaJ_N	ENSG00000135392		0.463	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	52	0.00	0	C	NM_032364		56217190	56217190	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	1.000	T
DPYSL3	1809	genome.wustl.edu	37	5	146804484	146804484	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr5:146804484C>T	ENST00000398514.3	-	2	453	c.82G>A	c.(82-84)Gat>Aat	p.D28N	DPYSL3_ENST00000343218.5_Missense_Mutation_p.D142N|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	28					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACTGATCATCATTGACG	0.358																																						dbGAP											0													137.0	125.0	129.0					5																	146804484		1888	4115	6003	-	-	-	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.82G>A	5.37:g.146804484C>T	ENSP00000381526:p.Asp28Asn		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.D28N	ENST00000398514.3	37	c.82	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.544345	0.96488	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.86769	-2.12;-2.17;-2.16	5.24	5.24	0.73138	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93704	0.7018	10	0.87932	D	0	-6.8105	19.1805	0.93622	0.0:1.0:0.0:0.0	.	142;28	B3SXQ8;Q14195	.;DPYL3_HUMAN	N	28;142;28	ENSP00000381526:D28N;ENSP00000343690:D142N;ENSP00000426720:D28N	ENSP00000343690:D142N	D	-	1	0	DPYSL3	146784677	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.602000	0.87976	0.563000	0.77884	GAT	DPYSL3	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.358	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	35	0.00	0	C	NM_001387		146804484	146804484	-1	no_errors	ENST00000398514	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40383905	40383905	+	Silent	SNP	G	G	A	rs145218790		TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr19:40383905G>A	ENST00000221347.6	-	21	9712	c.9705C>T	c.(9703-9705)tgC>tgT	p.C3235C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3235						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCAGGCCCGCAGCGACACC	0.677																																						dbGAP											0													1.0	1.0	1.0					19																	40383905		234	700	934	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9705C>T	19.37:g.40383905G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.C3235	ENST00000221347.6	37	c.9705	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out	ENSG00000090920		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	28	0.00	0	G	NM_003890		40383905	40383905	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	22	31.25	10	SNP	0.488	A
GRIP1	23426	genome.wustl.edu	37	12	66788018	66788018	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr12:66788018G>C	ENST00000398016.3	-	16	2011	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Nonsense_Mutation_p.S700*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.S700*	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGTGAGGCTTGAAATGATTAT	0.438																																						dbGAP											0													129.0	125.0	126.0					12																	66788018		1828	4082	5910	-	-	-	SO:0001587	stop_gained	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1943C>G	12.37:g.66788018G>C	ENSP00000381098:p.Ser648*		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S700*	ENST00000398016.3	37	c.2099	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.031202|8.031202	0.98619|0.98619	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|.	.|.	.|.	4.2|4.2	4.2|4.2	0.49525|0.49525	.|.	.|0.120960	.|0.64402	.|D	.|0.000020	T|.	0.72542|.	0.3473|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73767|.	-0.3879|.	3|.	.|.	.|.	.|.	-12.4895|-12.4895	17.8456|17.8456	0.88729|0.88729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	515|648;700;700;648;592;540	.|.	.|.	Q|S	-|-	1|2	0|0	GRIP1|GRIP1	65074285|65074285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.601000|9.601000	0.98297|0.98297	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CAA|TCA	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.438	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	61	0.00	0	G			66788018	66788018	-1	no_errors	ENST00000359742	ensembl	human	known	69_37n	nonsense	64	14.67	11	SNP	1.000	C
HIST1H2BC	8347	genome.wustl.edu	37	6	26123919	26123919	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr6:26123919C>G	ENST00000314332.5	-	1	219	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E72Q|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	72					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCGATGCGCTCAAATATGTCG	0.577																																						dbGAP											0													131.0	128.0	129.0					6																	26123919		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.214G>C	6.37:g.26123919C>G	ENSP00000321744:p.Glu72Gln		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E72Q	ENST00000314332.5	37	c.214	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	20.2	3.942119	0.73672	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.28454	1.61;1.61	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.25306	0.0615	.	.	.	0.42212	D	0.99181	B	0.30526	0.283	B	0.35899	0.213	T	0.04991	-1.0913	8	0.59425	D	0.04	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	72	P62807	H2B1C_HUMAN	Q	72	ENSP00000321744:E72Q;ENSP00000380180:E72Q	ENSP00000321744:E72Q	E	-	1	0	HIST1H2BC	26231898	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.584000	0.82572	2.799000	0.96334	0.650000	0.86243	GAG	HIST1H2BC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000180596		0.577	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	74	0.00	0	C	NM_003526		26123919	26123919	-1	no_errors	ENST00000314332	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	1.000	G
HTT	3064	genome.wustl.edu	37	4	3176466	3176466	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr4:3176466G>C	ENST00000355072.5	+	32	4330	c.4185G>C	c.(4183-4185)caG>caC	p.Q1395H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1395					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGTCCTCCAGAAAGTGTCTA	0.443																																						dbGAP											0													141.0	126.0	131.0					4																	3176466		1919	4143	6062	-	-	-	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4185G>C	4.37:g.3176466G>C	ENSP00000347184:p.Gln1395His		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.Q1395H	ENST00000355072.5	37	c.4185	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	19.88	3.910063	0.72983	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	5.59	4.57	0.56435	.	0.060039	0.64402	D	0.000002	T	0.14056	0.0340	L	0.51422	1.61	0.52501	D	0.999957	P	0.50943	0.94	P	0.53450	0.726	T	0.00706	-1.1601	10	0.41790	T	0.15	.	15.3626	0.74492	0.0783:0.0:0.9217:0.0	.	1395	P42858	HD_HUMAN	H	1395	ENSP00000347184:Q1395H	ENSP00000347184:Q1395H	Q	+	3	2	HTT	3146264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.579000	0.36536	2.626000	0.88956	0.650000	0.86243	CAG	HTT	-	NULL	ENSG00000197386		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	80	0.00	0	G	NM_002111		3176466	3176466	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141356269	141356269	+	Silent	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr2:141356269C>T	ENST00000389484.3	-	43	8096	c.7125G>A	c.(7123-7125)gaG>gaA	p.E2375E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2375					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATACAGCTTCTCTGCACGGT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													170.0	150.0	157.0					2																	141356269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7125G>A	2.37:g.141356269C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E2375	ENST00000389484.3	37	c.7125	CCDS2182.1	2																																																																																			LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	89	0.00	0	C	NM_018557		141356269	141356269	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	77	14.44	13	SNP	1.000	T
MYBPC3	4607	genome.wustl.edu	37	11	47367798	47367798	+	Silent	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr11:47367798C>T	ENST00000545968.1	-	12	1104	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	MYBPC3_ENST00000256993.4_Silent_p.K350K|MYBPC3_ENST00000399249.2_Silent_p.K350K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	350					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCTTGAGCCTCTTTAGCATGC	0.612																																						dbGAP											0													70.0	73.0	72.0					11																	47367798		2157	4277	6434	-	-	-	SO:0001819	synonymous_variant	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1050G>A	11.37:g.47367798C>T			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K350	ENST00000545968.1	37	c.1050	CCDS53621.1	11																																																																																			MYBPC3	-	NULL	ENSG00000134571		0.612	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	43	0.00	0	C			47367798	47367798	-1	no_errors	ENST00000399249	ensembl	human	known	69_37n	silent	41	12.77	6	SNP	0.999	T
NUP210L	91181	genome.wustl.edu	37	1	154062065	154062065	+	Silent	SNP	G	G	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr1:154062065G>A	ENST00000368559.3	-	16	2264	c.2193C>T	c.(2191-2193)ctC>ctT	p.L731L	NUP210L_ENST00000271854.3_Silent_p.L731L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	731					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCGGAATGTGAGAACCTTTA	0.423																																						dbGAP											0													70.0	71.0	70.0					1																	154062065		1895	4125	6020	-	-	-	SO:0001819	synonymous_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2193C>T	1.37:g.154062065G>A			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L731	ENST00000368559.3	37	c.2193	CCDS41399.1	1																																																																																			NUP210L	-	NULL	ENSG00000143552		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	29	0.00	0	G	NM_207308		154062065	154062065	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	silent	37	17.78	8	SNP	0.997	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	55	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	A
SLC36A1	206358	genome.wustl.edu	37	5	150858892	150858892	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr5:150858892C>T	ENST00000243389.3	+	10	1224	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L	RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.S334L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.S334L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	334					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TTGTACCAGTCAGTTAAGCTG	0.507																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													209.0	176.0	187.0					5																	150858892		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1001C>T	5.37:g.150858892C>T	ENSP00000243389:p.Ser334Leu		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S334L	ENST00000243389.3	37	c.1001	CCDS4316.1	5	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141241	0.37825	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.01902	4.57;4.57;4.57;4.57	5.77	5.77	0.91146	.	0.332728	0.32563	N	0.005926	T	0.04318	0.0119	L	0.42245	1.32	0.35304	D	0.783252	B;B	0.26512	0.02;0.151	B;B	0.36766	0.029;0.232	T	0.48468	-0.9033	10	0.10636	T	0.68	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	334;334	E7EW39;Q7Z2H8	.;S36A1_HUMAN	L	334;334;334;334;93	ENSP00000428140:S334L;ENSP00000243389:S334L;ENSP00000430305:S334L;ENSP00000428738:S93L	ENSP00000243389:S334L	S	+	2	0	SLC36A1	150839085	0.995000	0.38212	0.969000	0.41365	0.950000	0.60333	3.162000	0.50755	2.724000	0.93272	0.561000	0.74099	TCA	SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.507	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	52	0.00	0	C	NM_078483		150858892	150858892	+1	no_errors	ENST00000243389	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.991	T
SLC46A3	283537	genome.wustl.edu	37	13	29287565	29287565	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr13:29287565C>T	ENST00000266943.6	-	3	681	c.312G>A	c.(310-312)atG>atA	p.M104I	SLC46A3_ENST00000380814.4_Missense_Mutation_p.M104I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	104					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGACAAAATCATAGGGAATT	0.398																																						dbGAP											0													64.0	60.0	61.0					13																	29287565		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.312G>A	13.37:g.29287565C>T	ENSP00000266943:p.Met104Ile		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.M104I	ENST00000266943.6	37	c.312	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698939	0.03279	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.57595	0.39;0.39	6.17	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.426761	0.28016	N	0.016929	T	0.21881	0.0527	N	0.01874	-0.695	0.23023	N	0.998412	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.14755	-1.0461	10	0.16420	T	0.52	-22.5454	7.1266	0.25475	0.1287:0.6796:0.1244:0.0672	.	29;104;104	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	I	104	ENSP00000266943:M104I;ENSP00000370192:M104I	ENSP00000266943:M104I	M	-	3	0	SLC46A3	28185565	0.325000	0.24660	0.383000	0.26132	0.080000	0.17528	0.061000	0.14366	2.941000	0.99782	0.655000	0.94253	ATG	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.398	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	28	0.00	0	C	NM_181785		29287565	29287565	-1	no_errors	ENST00000266943	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.316	T
TMEM120B	144404	genome.wustl.edu	37	12	122186340	122186340	+	Silent	SNP	G	G	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr12:122186340G>A	ENST00000449592.2	+	3	398	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	99						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		ACCTGCCCAAGAAGAACGGGT	0.617																																						dbGAP											0													52.0	55.0	54.0					12																	122186340		2060	4186	6246	-	-	-	SO:0001819	synonymous_variant	0			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.297G>A	12.37:g.122186340G>A			A0PK01|B3KX33	Silent	SNP	pfam_TMPIT	p.K99	ENST00000449592.2	37	c.297	CCDS41852.1	12																																																																																			TMEM120B	-	pfam_TMPIT	ENSG00000188735		0.617	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	18	0.00	0	G	NM_001080825		122186340	122186340	+1	no_errors	ENST00000342607	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	1.000	A
TMEM120B	144404	genome.wustl.edu	37	12	122199562	122199562	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr12:122199562G>T	ENST00000449592.2	+	6	570	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	157						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAGGGTGACTGACGAAGTCTT	0.592																																						dbGAP											0													87.0	83.0	85.0					12																	122199562		2052	4197	6249	-	-	-	SO:0001583	missense	0			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.469G>T	12.37:g.122199562G>T	ENSP00000404991:p.Asp157Tyr		A0PK01|B3KX33	Missense_Mutation	SNP	pfam_TMPIT	p.D157Y	ENST00000449592.2	37	c.469	CCDS41852.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328273	0.81690	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.34667	1.35;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78425	-0.2209	10	0.72032	D	0.01	-33.9843	17.1968	0.86894	0.0:0.0:1.0:0.0	.	157	A0PK00	T120B_HUMAN	Y	157;136	ENSP00000404991:D157Y;ENSP00000442105:D136Y	ENSP00000345152:D157Y	D	+	1	0	TMEM120B	120683945	1.000000	0.71417	0.241000	0.24154	0.721000	0.41392	9.463000	0.97652	2.655000	0.90218	0.650000	0.86243	GAC	TMEM120B	-	pfam_TMPIT	ENSG00000188735		0.592	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	37	0.00	0	G	NM_001080825		122199562	122199562	+1	no_errors	ENST00000342607	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.997	T
TP53	7157	genome.wustl.edu	37	17	7577500	7577501	+	Splice_Site	INS	-	-	A			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr17:7577500_7577501insA	ENST00000269305.4	-	7	969_970	c.780_781insT	c.(778-783)tccagt>tccTagt	p.S261fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.S261fs|TP53_ENST00000455263.2_Splice_Site_p.S261fs|TP53_ENST00000359597.4_Splice_Site_p.S261fs|TP53_ENST00000413465.2_Splice_Site_p.R261fs|TP53_ENST00000420246.2_Splice_Site_p.S261fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	261	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S260S(4)|p.?(3)|p.S260_S261insX(3)|p.S261fs*84(3)|p.S261G(2)|p.S260del(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S261fs*151(1)|p.S261C(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S261R(1)|p.S261fs*4(1)|p.S261fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTCCTGACCTGGAGTCTTCCA	0.574		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(4)|Substitution - coding silent(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Insertion - In frame(3)|Unknown(3)	ovary(6)|upper_aerodigestive_tract(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|breast(2)|peritoneum(1)|urinary_tract(1)|skin(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1->T	17.37:g.7577500_7577501insA			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S260fs	ENST00000269305.4	37	c.781_780	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	39	0.00	0	-	NM_000546	Frame_Shift_Ins	7577500	7577501	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	38	13.64	6	INS	1.000:1.000	A
TRIM60	166655	genome.wustl.edu	37	4	165962158	165962158	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr4:165962158G>C	ENST00000512596.1	+	3	1150	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	TRIM60_ENST00000508504.1_Missense_Mutation_p.E312Q|TRIM60_ENST00000341062.5_Missense_Mutation_p.E312Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	312	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTTGTCTCTGAGGATAGAAA	0.403																																						dbGAP											0													87.0	91.0	90.0					4																	165962158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.934G>C	4.37:g.165962158G>C	ENSP00000421142:p.Glu312Gln		Q8NA35	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E312Q	ENST00000512596.1	37	c.934	CCDS3808.1	4	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464638	0.43736	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.10573	2.86;2.86;2.86	2.49	0.643	0.17770	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.146682	0.27618	U	0.018564	T	0.15392	0.0371	M	0.72894	2.215	0.25698	N	0.985612	P	0.47106	0.89	P	0.48952	0.596	T	0.06625	-1.0816	10	0.46703	T	0.11	.	4.7989	0.13287	0.1304:0.0:0.6589:0.2107	.	312	Q495X7	TRI60_HUMAN	Q	312	ENSP00000421142:E312Q;ENSP00000426496:E312Q;ENSP00000343765:E312Q	ENSP00000343765:E312Q	E	+	1	0	TRIM60	166181608	0.018000	0.18449	0.222000	0.23844	0.233000	0.25261	1.266000	0.33039	0.119000	0.18210	-0.150000	0.13652	GAG	TRIM60	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000176979		0.403	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	37	0.00	0	G	NM_152620		165962158	165962158	+1	no_errors	ENST00000341062	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.993	C
USH2A	7399	genome.wustl.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	rs527236139		TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chr1:215933077C>T	ENST00000307340.3	-	57	11542	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3719H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3719	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)																												dbGAP											0													122.0	115.0	118.0					1																	215933077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11156G>A	1.37:g.215933077C>T	ENSP00000305941:p.Arg3719His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R3719H	ENST00000307340.3	37	c.11156	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258397	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.5	4.57	0.56435	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000454	T	0.68879	0.3049	M	0.75447	2.3	0.50467	D	0.999877	D	0.89917	1.0	D	0.64410	0.925	T	0.70436	-0.4872	10	0.42905	T	0.14	.	13.475	0.61303	0.2845:0.7155:0.0:0.0	.	3719	O75445	USH2A_HUMAN	H	3719	ENSP00000305941:R3719H;ENSP00000355910:R3719H	ENSP00000305941:R3719H	R	-	2	0	USH2A	213999700	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.436000	0.52856	1.405000	0.46838	0.563000	0.77884	CGT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	61	0.00	0	C	NM_007123		215933077	215933077	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117529291	117529291	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DI-01A-31D-A18P-09	TCGA-GM-A2DI-11A-13D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a01d9f40-0c3c-4b36-a7fa-b1e755529402	9f237983-cac7-4eda-9ec8-a6c733f9c177	g.chrX:117529291G>C	ENST00000254029.3	+	6	1432	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	WDR44_ENST00000371822.5_Missense_Mutation_p.R321T|WDR44_ENST00000371825.3_Missense_Mutation_p.R346T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	346						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACTCTGGGAGAGAGCTTACT	0.378																																						dbGAP											0													77.0	76.0	76.0					X																	117529291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1037G>C	X.37:g.117529291G>C	ENSP00000254029:p.Arg346Thr		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R346T	ENST00000254029.3	37	c.1037	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.287022|4.287022	0.80803|0.80803	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.78126	.|-1.15;-0.47;-0.34	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83353|0.83353	0.5236|0.5236	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.97;0.996;1.0;0.976	.|P;D;D;P	.|0.91635	.|0.888;0.911;0.999;0.829	D|D	0.85534|0.85534	0.1211|0.1211	5|10	.|0.72032	.|D	.|0.01	-18.4589|-18.4589	18.0433|18.0433	0.89325|0.89325	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|321;346;346;346	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	D|T	245|321;346;346	.|ENSP00000360887:R321T;ENSP00000254029:R346T;ENSP00000360890:R346T	.|ENSP00000254029:R346T	E|R	+|+	3|2	2|0	WDR44|WDR44	117413319|117413319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.322000|9.322000	0.96357|0.96357	2.195000|2.195000	0.70347|0.70347	0.600000|0.600000	0.82982|0.82982	GAG|AGA	WDR44	-	NULL	ENSG00000131725		0.378	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	49	0.00	0	G	NM_019045		117529291	117529291	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	55	18.84	13	SNP	1.000	C
